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
TTLL10	254173	broad.mit.edu	37	1	1120411	1120411	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:1120411A>G	uc001acy.2	+	13	1474	c.1323A>G	c.(1321-1323)GAA>GAG	p.E441E	TTLL10_uc010nyg.1_Silent_p.E441E|TTLL10_uc001acz.1_Silent_p.E368E	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	441	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			large_intestine(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGAGCATGGAACACCTCAACC	0.607												
PUSL1	126789	broad.mit.edu	37	1	1244909	1244909	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:1244909C>T	uc001aed.2	+	4	429	c.399C>T	c.(397-399)CGC>CGT	p.R133R	ACAP3_uc001aeb.2_5'Flank|ACAP3_uc001aec.1_5'UTR|PUSL1_uc010nyi.1_5'UTR|PUSL1_uc009vjx.2_5'UTR	NM_153339	NP_699170	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	133					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			skin(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTGTACCGCCTGGCCACTG	0.657												
KIAA1751	85452	broad.mit.edu	37	1	1887130	1887130	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:1887130C>A	uc001aim.1	-	18	2332	c.2176G>T	c.(2176-2178)GGT>TGT	p.G726C	KIAA1751_uc009vkz.1_Missense_Mutation_p.V726L	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	726										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CCTGGCTCACCTGCGGGCTGC	0.687												
KIAA1751	85452	broad.mit.edu	37	1	1895288	1895288	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:1895288C>A	uc001aim.1	-	14	1750	c.1594G>T	c.(1594-1596)GTG>TTG	p.V532L	KIAA1751_uc009vkz.1_Missense_Mutation_p.V532L	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	532										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TTCTTGTACACTTTGCCAATA	0.542												
SKI	6497	broad.mit.edu	37	1	2237624	2237624	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:2237624C>T	uc001aja.3	+	6	2005	c.1933C>T	c.(1933-1935)CGG>TGG	p.R645W		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	645	Potential.				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GGAGCAGGCGCGGCAGGCCCG	0.692												
KIAA0562	9731	broad.mit.edu	37	1	3750491	3750491	+	Missense_Mutation	SNP	C	C	T	rs148927222		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:3750491C>T	uc001aky.2	-	12	1953	c.1594G>A	c.(1594-1596)GTT>ATT	p.V532I	KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.V532I	NM_014704	NP_055519	O60308	CE104_HUMAN	glycine-, glutamate-,	532	HEAT 1.					centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)		GTGAGCAAAACGGGAATGGTC	0.423												
UBE4B	10277	broad.mit.edu	37	1	10166465	10166465	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:10166465G>A	uc001aqs.3	+	7	1733	c.1020G>A	c.(1018-1020)GCG>GCA	p.A340A	UBE4B_uc001aqr.3_Intron|UBE4B_uc010oai.1_Intron|UBE4B_uc010oaj.1_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	340					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ACCCATGGGCGTCCTCAGGCG	0.652												
CASZ1	54897	broad.mit.edu	37	1	10713683	10713683	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:10713683T>C	uc001aro.2	-	11	2751	c.2431A>G	c.(2431-2433)ACC>GCC	p.T811A	CASZ1_uc001arp.1_Missense_Mutation_p.T811A|CASZ1_uc009vmx.2_Missense_Mutation_p.T835A	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCAGGGAGGTGCTCCCACGG	0.716												
PLOD1	5351	broad.mit.edu	37	1	12024291	12024291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:12024291C>T	uc001atm.2	+	12	1353	c.1262C>T	c.(1261-1263)GCT>GTT	p.A421V	PLOD1_uc010obb.1_Missense_Mutation_p.A468V	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	421					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	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;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCTGGGGGGCTCTCAGTGCA	0.637												
TMEM51	55092	broad.mit.edu	37	1	15541718	15541718	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:15541718T>C	uc001avw.3	+	3	654	c.135T>C	c.(133-135)GCT>GCC	p.A45A	TMEM51_uc010obk.1_Silent_p.A45A|TMEM51_uc001avz.2_Silent_p.A45A|TMEM51_uc001avy.2_Silent_p.A45A|TMEM51_uc001avx.2_Silent_p.A45A	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN	transmembrane protein 51	45						integral to membrane					0		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		AGCCAACAGCTCAGGGCAGCA	0.647												
SPEN	23013	broad.mit.edu	37	1	16247461	16247461	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:16247461G>A	uc001axk.1	+	9	1936	c.1732G>A	c.(1732-1734)GGT>AGT	p.G578S	SPEN_uc010obp.1_Missense_Mutation_p.G537S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	578	RRM 4.				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)		GAGGAAAATCGGTGGGAATAA	0.363												
CROCC	9696	broad.mit.edu	37	1	17281831	17281831	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:17281831C>T	uc001azt.2	+	24	3559	c.3490C>T	c.(3490-3492)CGT>TGT	p.R1164C	CROCC_uc001azu.2_Missense_Mutation_p.R467C	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1164	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GACCCAGCTGCGTCTGCTGGA	0.697												
ATP13A2	23400	broad.mit.edu	37	1	17313302	17313302	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:17313302T>C	uc001baa.2	-	27	3423	c.3233A>G	c.(3232-3234)AAT>AGT	p.N1078S	ATP13A2_uc001azz.1_Missense_Mutation_p.N225S|ATP13A2_uc001bab.2_Missense_Mutation_p.N1073S|ATP13A2_uc001bac.2_Missense_Mutation_p.N1034S	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	1078	Cytoplasmic (Potential).				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)		AGTGGCACCATTGGTGTAGAG	0.677												
PADI2	11240	broad.mit.edu	37	1	17431417	17431417	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:17431417G>A	uc001baf.2	-	2	314	c.232C>T	c.(232-234)CGG>TGG	p.R78W	PADI2_uc010ocm.1_Missense_Mutation_p.R78W|PADI2_uc001bag.1_Missense_Mutation_p.R78W	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	78					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ATGGTGACCCGCAGGGTGGTG	0.672												
ARHGEF10L	55160	broad.mit.edu	37	1	17914943	17914943	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:17914943C>A	uc001ban.2	+	4	385	c.226C>A	c.(226-228)CCA>ACA	p.P76T	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.P76T|ARHGEF10L_uc001bao.2_Missense_Mutation_p.P76T|ARHGEF10L_uc001bap.2_Missense_Mutation_p.P76T|ARHGEF10L_uc010ocr.1_5'UTR	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	76					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTTTGCAGACCCAGACCCAGC	0.652												
ARHGEF10L	55160	broad.mit.edu	37	1	17990974	17990974	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:17990974G>A	uc001ban.2	+	26	3052	c.2893G>A	c.(2893-2895)GTG>ATG	p.V965M	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.V926M|ARHGEF10L_uc001bao.2_Missense_Mutation_p.V926M|ARHGEF10L_uc001bap.2_Missense_Mutation_p.V921M|ARHGEF10L_uc001baq.2_Missense_Mutation_p.V726M|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.V738M|ARHGEF10L_uc001bar.2_Missense_Mutation_p.V668M|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	965					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GAGCCCTCCCGTGTGCCTGAC	0.697												
KLHDC7A	127707	broad.mit.edu	37	1	18809662	18809662	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:18809662A>G	uc001bax.2	+	1	2239	c.2187A>G	c.(2185-2187)GGA>GGG	p.G729G	KLHDC7A_uc009vpg.2_Silent_p.G511G	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	729						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCGTGGGACGCCGGAGCA	0.667												
TAS1R2	80834	broad.mit.edu	37	1	19166729	19166729	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:19166729G>T	uc001bba.1	-	6	1885	c.1884C>A	c.(1882-1884)TCC>TCA	p.S628S		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	628	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGAGGCAGGTGGAGACCTTGG	0.612												
UBR4	23352	broad.mit.edu	37	1	19480401	19480401	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:19480401A>C	uc001bbi.2	-	45	6495	c.6491T>G	c.(6490-6492)CTT>CGT	p.L2164R	UBR4_uc001bbk.1_5'Flank|UBR4_uc001bbl.1_Missense_Mutation_p.L101R|UBR4_uc001bbm.1_Missense_Mutation_p.L1376R	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2164					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCACTGGCAAAGAGCAGGAGA	0.478												
KIAA0090	23065	broad.mit.edu	37	1	19564605	19564605	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:19564605T>C	uc001bbo.2	-	11	1161	c.1118A>G	c.(1117-1119)TAC>TGC	p.Y373C	KIAA0090_uc001bbp.2_Missense_Mutation_p.Y373C|KIAA0090_uc001bbq.2_Missense_Mutation_p.Y372C|KIAA0090_uc001bbr.2_Missense_Mutation_p.Y351C	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	373	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		GTTAATGGTGTAGGTCTGATT	0.547												
AKR7A2	8574	broad.mit.edu	37	1	19634729	19634729	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:19634729T>C	uc001bbw.2	-	3	536	c.514A>G	c.(514-516)AAC>GAC	p.N172D	AKR7A2_uc001bbx.2_Intron|AKR7A2_uc009vpi.1_Missense_Mutation_p.N172D	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	172	NADP.				carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTAGCATAGTTGGAGAGGCCA	0.632												
EIF4G3	8672	broad.mit.edu	37	1	21191710	21191710	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:21191710G>A	uc001bec.2	-	16	2756	c.2500C>T	c.(2500-2502)CGG>TGG	p.R834W	EIF4G3_uc010odi.1_Missense_Mutation_p.R438W|EIF4G3_uc010odj.1_Missense_Mutation_p.R833W|EIF4G3_uc009vpz.2_Missense_Mutation_p.R554W|EIF4G3_uc001bed.2_Missense_Mutation_p.R834W|EIF4G3_uc001bef.2_Missense_Mutation_p.R870W|EIF4G3_uc001bee.2_Missense_Mutation_p.R840W	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	834	eIF3/EIF4A-binding (By similarity).|MIF4G.|HEAT 3.			RK->DD: Reduces binding to IRES.	interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGCAGCTTCCGGAAATTCACT	0.403												
LDLRAD2	401944	broad.mit.edu	37	1	22141090	22141090	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:22141090G>A	uc001bfg.1	+	2	472	c.285G>A	c.(283-285)GCG>GCA	p.A95A		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain	95	Extracellular (Potential).					integral to membrane	receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		CGCCCCCGGCGCTCAACACCT	0.642												
HSPG2	3339	broad.mit.edu	37	1	22183650	22183650	+	Silent	SNP	G	G	A	rs140134749	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:22183650G>A	uc001bfj.2	-	44	5473	c.5433C>T	c.(5431-5433)AAC>AAT	p.N1811N	HSPG2_uc009vqd.2_Silent_p.N1812N	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1811	Ig-like C2-type 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)	GCAGTTTCCCGTTGTGCAGGC	0.607												
C1QC	714	broad.mit.edu	37	1	22973964	22973964	+	Silent	SNP	G	G	A	rs141293786		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:22973964G>A	uc001bgc.3	+	3	529	c.426G>A	c.(424-426)GCG>GCA	p.A142A	C1QC_uc001bga.3_Silent_p.A142A|C1QC_uc001bgb.2_Silent_p.A142A	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	142	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	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)	GATTCAACGCGGTCCTCACCA	0.567												
IL22RA1	58985	broad.mit.edu	37	1	24447436	24447436	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:24447436A>G	uc001biq.1	-	7	1623	c.1584T>C	c.(1582-1584)AGT>AGC	p.S528S	IL22RA1_uc010oeg.1_Silent_p.S460S|IL22RA1_uc009vrb.1_Silent_p.S392S|IL22RA1_uc010oeh.1_3'UTR	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1 precursor	528	Cytoplasmic (Potential).					integral to membrane	interferon receptor activity			skin(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GGCCCCAGGGACTTGGACCTT	0.622												
TMEM57	55219	broad.mit.edu	37	1	25780773	25780773	+	Missense_Mutation	SNP	G	G	A	rs113398522		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:25780773G>A	uc001bkk.2	+	4	575	c.373G>A	c.(373-375)GTG>ATG	p.V125M	TMEM57_uc009vru.2_Missense_Mutation_p.V125M|TMEM57_uc009vrv.2_Intron|TMEM57_uc009vrt.2_RNA	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	125	Helical; (Potential).					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCCTACAGTGTCTCTCTG	0.393												
EXTL1	2134	broad.mit.edu	37	1	26349202	26349202	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:26349202T>C	uc001blf.2	+	1	932	c.65T>C	c.(64-66)GTC>GCC	p.V22A		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	22	Helical; Signal-anchor for type II membrane protein; (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCTGCTTGTCCTGCTGGGA	0.657												
ARID1A	8289	broad.mit.edu	37	1	27101055	27101055	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:27101055G>A	uc001bmv.1	+	18	4710	c.4337G>A	c.(4336-4338)CGA>CAA	p.R1446Q	ARID1A_uc001bmt.1_Missense_Mutation_p.R1445Q|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Missense_Mutation_p.R1063Q|ARID1A_uc001bmx.1_Missense_Mutation_p.R292Q|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1446					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACTGAGCGCCGACCAGCAGGC	0.587			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
GPATCH3	63906	broad.mit.edu	37	1	27218981	27218981	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:27218981C>A	uc001bne.2	-	6	1311	c.1282G>T	c.(1282-1284)GGC>TGC	p.G428C	GPN2_uc001bnd.1_5'Flank|GPATCH3_uc009vsp.1_Missense_Mutation_p.G239C	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	428	G-patch.					intracellular	nucleic acid binding				0		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCCCAGGCCCTGGCCCTCA	0.627												
AHDC1	27245	broad.mit.edu	37	1	27878058	27878058	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:27878058G>A	uc009vsy.2	-	6	1538	c.569C>T	c.(568-570)TCG>TTG	p.S190L	AHDC1_uc009vsz.1_Missense_Mutation_p.S190L|AHDC1_uc001boh.1_Missense_Mutation_p.S63L	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	190	Pro-rich.						DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGCCGCTCCGACTTGGCGTG	0.677												
MED18	54797	broad.mit.edu	37	1	28661170	28661170	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:28661170G>A	uc001bpt.3	+	3	561	c.316G>A	c.(316-318)GTG>ATG	p.V106M	MED18_uc009vtg.2_Missense_Mutation_p.V106M	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	106					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding				0		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		GCGAAACTGCGTGGACATTGC	0.562												
TMEM200B	399474	broad.mit.edu	37	1	29447582	29447582	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:29447582G>T	uc001brn.1	-	2	819	c.759C>A	c.(757-759)TCC>TCA	p.S253S		NM_001003682	NP_001003682	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	253						integral to membrane					0		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		GTTCAATGCAGGAGCCAGACG	0.657												
PUM1	9698	broad.mit.edu	37	1	31465500	31465500	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:31465500G>T	uc001bsi.1	-	7	1008	c.895C>A	c.(895-897)CCT>ACT	p.P299T	PUM1_uc001bsf.1_5'UTR|PUM1_uc001bsg.1_Missense_Mutation_p.P111T|PUM1_uc001bsh.1_Missense_Mutation_p.P299T|PUM1_uc001bsj.1_Missense_Mutation_p.P299T|PUM1_uc010oga.1_Missense_Mutation_p.P203T|PUM1_uc001bsk.1_Missense_Mutation_p.P335T|PUM1_uc010ogb.1_Missense_Mutation_p.P239T	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	299					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CAATTACCAGGGGTACGGCTA	0.478												
TINAGL1	64129	broad.mit.edu	37	1	32049152	32049152	+	Silent	SNP	G	G	A	rs143266156	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:32049152G>A	uc001bta.2	+	5	684	c.558G>A	c.(556-558)TCG>TCA	p.S186S	TINAGL1_uc001bsz.2_Silent_p.S41S|TINAGL1_uc010ogj.1_Silent_p.S155S|TINAGL1_uc010ogk.1_Silent_p.S186S	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	186					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CATCTTCCTCGGTCATGAACA	0.587												
LCK	3932	broad.mit.edu	37	1	32740967	32740967	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:32740967A>T	uc001bux.2	+	5	462	c.324A>T	c.(322-324)GAA>GAT	p.E108D	LCK_uc001buy.2_Missense_Mutation_p.E108D|LCK_uc001buz.2_Missense_Mutation_p.E108D|LCK_uc010ohc.1_Missense_Mutation_p.E152D|LCK_uc001bva.2_Missense_Mutation_p.E166D	NM_005356	NP_005347	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	108	SH3.				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)	CGGGCCAGGAAGGCTTCATCC	0.642			T	TRB@	T-ALL							
RBBP4	5928	broad.mit.edu	37	1	33133933	33133933	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:33133933A>G	uc001bvr.2	+	4	577	c.418A>G	c.(418-420)ATC>GTC	p.I140V	RBBP4_uc001bvs.2_Missense_Mutation_p.I139V|RBBP4_uc010ohj.1_Intron|RBBP4_uc010ohk.1_Missense_Mutation_p.I105V	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	140	WD 1.				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCCTTGTATCATCGCAACAAA	0.378												
YARS	8565	broad.mit.edu	37	1	33272165	33272165	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:33272165T>C	uc001bvy.1	-	4	1216	c.428A>G	c.(427-429)CAC>CGC	p.H143R		NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	143				H -> R (in Ref. 4; BAD97328).	apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CTTGGAATCGTGCTGTGTGAC	0.542												
MAP7D1	55700	broad.mit.edu	37	1	36641819	36641819	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:36641819C>T	uc001bzz.2	+	7	1086	c.870C>T	c.(868-870)AGC>AGT	p.S290S	MAP7D1_uc001caa.2_Silent_p.S290S|MAP7D1_uc001cab.2_Silent_p.S253S|MAP7D1_uc001cac.2_5'UTR|MAP7D1_uc001cad.2_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	290						cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				TGCAGCTGAGCGCATGGGAGA	0.672												
C1orf113	79729	broad.mit.edu	37	1	36785312	36785312	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:36785312G>C	uc010oia.1	+	14	1076	c.1048G>C	c.(1048-1050)GTG>CTG	p.V350L	C1orf113_uc010oib.1_Missense_Mutation_p.V239L|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_5'UTR	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN	SH3 domain-containing protein C1orf113 isoform	234											0		Myeloproliferative disorder(586;0.0393)				GGCCCCCTCTGTGAAGAGAAC	0.617												
SF3A3	10946	broad.mit.edu	37	1	38423870	38423870	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:38423870T>G	uc001cci.2	-	17	1618	c.1494A>C	c.(1492-1494)CAA>CAC	p.Q498H	SF3A3_uc010oik.1_Missense_Mutation_p.Q445H	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	498					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGAGCAGTCCTTGTCTTTTCA	0.433												
MACF1	23499	broad.mit.edu	37	1	39800373	39800373	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:39800373G>A	uc010oiu.1	+	1	3564	c.3433G>A	c.(3433-3435)GCA>ACA	p.A1145T	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2710	Plectin 11.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTGACATTGGCATCAGCTTT	0.403												
KCNQ4	9132	broad.mit.edu	37	1	41285564	41285564	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:41285564C>T	uc001cgh.1	+	6	934	c.852C>T	c.(850-852)ATC>ATT	p.I284I	KCNQ4_uc001cgi.1_Silent_p.I284I	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	potassium voltage-gated channel KQT-like protein	284	Selectivity filter (By similarity).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TGACAACCATCGGCTATGGTG	0.582												
RIMKLA	284716	broad.mit.edu	37	1	42870241	42870241	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:42870241G>A	uc001chi.2	+	3	592	c.454G>A	c.(454-456)GTG>ATG	p.V152M		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	152	ATP-grasp.|ATP (By similarity).				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CTACCCAGTCGTGGTGAAGAG	0.547												
RIMKLA	284716	broad.mit.edu	37	1	42880340	42880340	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:42880340G>A	uc001chi.2	+	5	1009	c.871G>A	c.(871-873)GTG>ATG	p.V291M		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family	291	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CAACTTAGATGTGGGTGGGAT	0.498												
RNF220	55182	broad.mit.edu	37	1	45079871	45079871	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:45079871G>A	uc001clv.1	+	3	1020	c.660G>A	c.(658-660)CAG>CAA	p.Q220Q	RNF220_uc001clw.1_Silent_p.Q220Q|RNF220_uc010okx.1_5'UTR|RNF220_uc010oky.1_5'UTR	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	220					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TCGACAGCCAGGCCCCAATTT	0.592												
ZSWIM5	57643	broad.mit.edu	37	1	45553711	45553711	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:45553711C>T	uc001cnd.2	-	2	1022	c.794G>A	c.(793-795)CGT>CAT	p.R265H		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	265							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					GATAGGAAGACGCAATTTGAC	0.443												
NASP	4678	broad.mit.edu	37	1	46068012	46068012	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:46068012G>A	uc001coi.1	+	3	295	c.193G>A	c.(193-195)GCA>ACA	p.A65T	NASP_uc010olq.1_Intron|NASP_uc001coh.1_Missense_Mutation_p.A67T|NASP_uc001coj.1_Missense_Mutation_p.A65T|NASP_uc010olr.1_Intron|NASP_uc001cok.1_5'UTR	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	65	TPR 1.				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGCTGTCAATGCATTCCAGGA	0.343												
FOXD2	2306	broad.mit.edu	37	1	47904205	47904205	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:47904205T>C	uc001crm.2	+	1	2517	c.398T>C	c.(397-399)ATC>ACC	p.I133T		NM_004474	NP_004465	O60548	FOXD2_HUMAN	forkhead box D2	133	Fork-head.				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				0				READ - Rectum adenocarcinoma(2;0.0908)		TACTCGTACATCGCGCTCATC	0.438												
NRD1	4898	broad.mit.edu	37	1	52301819	52301819	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:52301819T>C	uc001ctc.3	-	5	1222	c.900A>G	c.(898-900)GCA>GCG	p.A300A	NRD1_uc009vzb.2_5'UTR|NRD1_uc001ctd.3_Silent_p.A232A|NRD1_uc001cte.2_Silent_p.A168A|NRD1_uc001ctf.2_Silent_p.A232A|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Silent_p.A100A	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	231					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						CCAAAAAGTGTGCCAGCCCCG	0.423												
CC2D1B	200014	broad.mit.edu	37	1	52821976	52821976	+	Splice_Site	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:52821976T>C	uc001ctq.1	-	18	2094	c.1956_splice	c.e18-1	p.R652_splice	CC2D1B_uc001ctr.2_Splice_Site_p.R192_splice|CC2D1B_uc001cts.2_Splice_Site_p.R337_splice	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B											ovary(2)	2						TTCTCAAATCTGACAGGGATG	0.582												
DAB1	1600	broad.mit.edu	37	1	57535092	57535092	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:57535092C>T	uc001cys.1	-	10	1278	c.604G>A	c.(604-606)GTG>ATG	p.V202M	DAB1_uc001cyt.1_Missense_Mutation_p.V202M|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc009vzx.1_Missense_Mutation_p.V202M	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	202					cell differentiation|nervous system development					skin(2)|ovary(1)	3						GCCTCAAACACAATGTACTAT	0.413												
DOCK7	85440	broad.mit.edu	37	1	63113432	63113432	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:63113432G>A	uc001daq.2	-	7	782	c.748C>T	c.(748-750)CGG>TGG	p.R250W	DOCK7_uc001dan.2_Missense_Mutation_p.R142W|DOCK7_uc001dao.2_Missense_Mutation_p.R142W|DOCK7_uc001dap.2_Missense_Mutation_p.R250W|DOCK7_uc009wah.1_Missense_Mutation_p.R250W	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	250					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						ACACTAAGCCGTTCTATTGGT	0.303												
ANKRD13C	81573	broad.mit.edu	37	1	70766480	70766480	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:70766480A>G	uc001dex.3	-	7	1214	c.888T>C	c.(886-888)AAT>AAC	p.N296N	ANKRD13C_uc009wbk.2_Silent_p.N261N	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	296					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding				0						CTTTTTGTTCATTGTCTAATA	0.358												
FAM73A	374986	broad.mit.edu	37	1	78249019	78249019	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:78249019T>C	uc001dhx.2	+	2	210	c.178T>C	c.(178-180)TAC>CAC	p.Y60H	FAM73A_uc010ork.1_Missense_Mutation_p.Y60H|FAM73A_uc010orl.1_Intron	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	60						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		TCTGACTTGGTACTATTCTCT	0.358												
LPHN2	23266	broad.mit.edu	37	1	82415943	82415943	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:82415943T>C	uc001dit.3	+	7	1450	c.1269T>C	c.(1267-1269)ACT>ACC	p.T423T	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.T423T|LPHN2_uc001div.2_Silent_p.T423T|LPHN2_uc009wcd.2_Silent_p.T423T|LPHN2_uc001diw.2_5'UTR	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	423	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CCACAAGCACTACTTCACAGA	0.428												
LRRC8C	84230	broad.mit.edu	37	1	90179605	90179605	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:90179605C>T	uc001dnl.3	+	3	1718	c.1476C>T	c.(1474-1476)AAC>AAT	p.N492N		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	492	LRR 5.					endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGAAGGAAAACCTCAAGGTCT	0.502												
GFI1	2672	broad.mit.edu	37	1	92948991	92948991	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:92948991C>T	uc001dou.3	-	2	218	c.54G>A	c.(52-54)CCG>CCA	p.P18P	GFI1_uc001dov.3_Silent_p.P18P|GFI1_uc001dow.3_Silent_p.P18P	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN	growth factor independent 1	18					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)	1		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CTGGGGAGCGCGGCTGGTGGT	0.667												
HIAT1	64645	broad.mit.edu	37	1	100546165	100546165	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:100546165A>G	uc001dst.2	+	11	1216	c.1216A>G	c.(1216-1218)ACA>GCA	p.T406A		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	406	Cytoplasmic (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ACTGCCAATAACAGGAACAGA	0.398												
COL11A1	1301	broad.mit.edu	37	1	103345424	103345424	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:103345424T>C	uc001dul.2	-	66	5407	c.5089A>G	c.(5089-5091)ACA>GCA	p.T1697A	COL11A1_uc001duk.2_Missense_Mutation_p.T893A|COL11A1_uc001dum.2_Missense_Mutation_p.T1709A|COL11A1_uc001dun.2_Missense_Mutation_p.T1658A|COL11A1_uc009weh.2_Missense_Mutation_p.T1581A	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1697	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCAGGAATGTCATTTGCACC	0.393												
VAV3	10451	broad.mit.edu	37	1	108116789	108116789	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:108116789G>A	uc001dvk.1	-	26	2436	c.2382C>T	c.(2380-2382)ATC>ATT	p.I794I	VAV3_uc010ouu.1_Silent_p.I226I|VAV3_uc001dvj.1_Silent_p.I234I|VAV3_uc010ouv.1_Silent_p.I198I|VAV3_uc010ouw.1_Silent_p.I822I	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	794	SH3 2.				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)		CATACCGAGCGATGGCAATGC	0.423												
GPSM2	29899	broad.mit.edu	37	1	109440708	109440708	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:109440708C>T	uc010ovc.1	+	5	1038	c.542C>T	c.(541-543)GCC>GTC	p.A181V	AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.A181V|GPSM2_uc010ove.1_Missense_Mutation_p.A181V	NM_013296	NP_037428	P81274	GPSM2_HUMAN	LGN protein	181	TPR 4.				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTGCAGGCAGCCGTGGATTTT	0.468												
CELSR2	1952	broad.mit.edu	37	1	109793562	109793562	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:109793562T>C	uc001dxa.3	+	1	922	c.861T>C	c.(859-861)CCT>CCC	p.P287P		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	287	Cadherin 1.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACCATGACCCTGTGTTCGAGC	0.602												
GSTM5	2949	broad.mit.edu	37	1	110257571	110257571	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:110257571G>T	uc001dyn.2	+	6	434	c.363G>T	c.(361-363)GAG>GAT	p.E121D	GSTM5_uc010ovu.1_Missense_Mutation_p.E80D	NM_000851	NP_000842	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	121	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			central_nervous_system(6)	6		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TGCCTCAGGAGAAACTGAAGC	0.542												
KCNA3	3738	broad.mit.edu	37	1	111217183	111217183	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:111217183G>A	uc001dzv.1	-	1	473	c.249C>T	c.(247-249)TGC>TGT	p.C83C		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	83						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTAGCGGTCGCAGCCGCCGC	0.746												
AP4B1	10717	broad.mit.edu	37	1	114442703	114442703	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:114442703T>C	uc001eeb.2	-	5	1080	c.937A>G	c.(937-939)AGC>GGC	p.S313G	uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.S145G|AP4B1_uc001eed.2_Missense_Mutation_p.S313G|AP4B1_uc010owp.1_Missense_Mutation_p.S214G|AP4B1_uc001eea.1_Missense_Mutation_p.S107G|AP4B1_uc001eee.1_5'Flank|AP4B1_uc010owq.1_Missense_Mutation_p.S220G	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	313					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)		TTGTAGTGGCTGCTAAAGTGA	0.463												
TTF2	8458	broad.mit.edu	37	1	117618443	117618443	+	Missense_Mutation	SNP	C	C	T	rs148191511		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:117618443C>T	uc001egy.2	+	5	1257	c.1237C>T	c.(1237-1239)CGG>TGG	p.R413W	TTF2_uc001egx.1_Missense_Mutation_p.R413W	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	413					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCCAGTAGCCCGGCGTGTCTA	0.463												
HIST2H2BF	440689	broad.mit.edu	37	1	149399184	149399184	+	RNA	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:149399184G>T	uc010pbi.1	-	1		c.46C>A						Q5QNW6	H2B2F_HUMAN	Homo sapiens histone cluster 2, H3, pseudogene 2, mRNA (cDNA clone IMAGE:5190019).						nucleosome assembly	nucleosome|nucleus	DNA binding				0	Breast(34;0.0124)|all_hematologic(923;0.127)					CGGCATTTTTGCGCGAAAAAA	0.498												
CA14	23632	broad.mit.edu	37	1	150233969	150233969	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:150233969C>T	uc001etx.2	+	3	497	c.188C>T	c.(187-189)GCT>GTT	p.A63V		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV precursor	63	Extracellular (Potential).					integral to membrane	carbonate dehydratase activity|metal ion binding			ovary(1)	1	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATTTGCCTGCTCTGCAGCCC	0.547												
NPR1	4881	broad.mit.edu	37	1	153658344	153658344	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:153658344A>G	uc001fcs.3	+	9	2089	c.1668A>G	c.(1666-1668)ACA>ACG	p.T556T	NPR1_uc010pdz.1_Silent_p.T302T|NPR1_uc010pea.1_Silent_p.T60T	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	556	Cytoplasmic (Potential).|Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TTGCCAAGACAGCATATTATA	0.572												
NPR1	4881	broad.mit.edu	37	1	153660166	153660166	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:153660166T>C	uc001fcs.3	+	14	2570	c.2149T>C	c.(2149-2151)TCC>CCC	p.S717P	NPR1_uc010pdz.1_Missense_Mutation_p.S463P|NPR1_uc010pea.1_Missense_Mutation_p.S195P	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	717	Cytoplasmic (Potential).|Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGTGCGGGGCTCCCAGGCTGG	0.602												
KCNN3	3782	broad.mit.edu	37	1	154841703	154841703	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:154841703G>A	uc001ffp.2	-	1	1052	c.738C>T	c.(736-738)GCC>GCT	p.A246A	KCNN3_uc009wox.1_Silent_p.A246A	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	251						integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CGGTGGTGCCGGCATGCTGGT	0.582												
ASH1L	55870	broad.mit.edu	37	1	155308103	155308103	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:155308103T>C	uc009wqq.2	-	27	9075	c.8595A>G	c.(8593-8595)GAA>GAG	p.E2865E	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Silent_p.E2860E	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2865					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)			CTAGAACCTCTTCAATCAAGG	0.517												
C1orf85	112770	broad.mit.edu	37	1	156263285	156263285	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:156263285C>T	uc001foh.2	-	5	894	c.881G>A	c.(880-882)CGA>CAA	p.R294Q	C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.2_Intron|C1orf85_uc009wrx.2_Missense_Mutation_p.R227Q|C1orf85_uc001foj.2_Missense_Mutation_p.R208Q	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	kidney predominant protein NCU-G1 precursor	294	Lumenal (Potential).				positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2	Hepatocellular(266;0.158)					GGCTGATTCTCGGCCCCCCGG	0.587												
C1orf92	149499	broad.mit.edu	37	1	156899200	156899200	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:156899200C>T	uc001fqm.2	+	10	1297	c.1125C>T	c.(1123-1125)GGC>GGT	p.G375G	C1orf92_uc001fql.2_Silent_p.G160G	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	hypothetical protein LOC149499	375											0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGGCCTGGGCAAGAAAAAGG	0.532												
ARHGEF11	9826	broad.mit.edu	37	1	156915929	156915929	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:156915929C>T	uc001fqo.2	-	28	3640	c.2600G>A	c.(2599-2601)CGG>CAG	p.R867Q	ARHGEF11_uc010phu.1_Missense_Mutation_p.R283Q|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R907Q	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	867	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCAGCCGCCGACACTGAGG	0.597												
CD1A	909	broad.mit.edu	37	1	158225951	158225951	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:158225951C>A	uc001frt.2	+	3	1016	c.483C>A	c.(481-483)TTC>TTA	p.F161L		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	161	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CCAAGCATTTCTGCAAAGTGC	0.438												
OR10K1	391109	broad.mit.edu	37	1	158435710	158435710	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:158435710A>T	uc010pij.1	+	1	359	c.359A>T	c.(358-360)TAT>TTT	p.Y120F		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GCCATGGGCTATGATCGCTAT	0.532												
SPTA1	6708	broad.mit.edu	37	1	158644339	158644339	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:158644339C>T	uc001fst.1	-	9	1438	c.1239G>A	c.(1237-1239)CAG>CAA	p.Q413Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	413	Spectrin 5.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CCTTATGCTGCTGATGCCTGT	0.512												
PYHIN1	149628	broad.mit.edu	37	1	158908285	158908285	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:158908285A>C	uc001ftb.2	+	3	609	c.364A>C	c.(364-366)AGC>CGC	p.S122R	PYHIN1_uc001fta.3_Missense_Mutation_p.S122R|PYHIN1_uc001ftc.2_Missense_Mutation_p.S113R|PYHIN1_uc001ftd.2_Missense_Mutation_p.S122R|PYHIN1_uc001fte.2_Missense_Mutation_p.S113R	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	122					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					ATGCACCCCAAGCAACCGTCT	0.463												
NCSTN	23385	broad.mit.edu	37	1	160325747	160325747	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:160325747C>T	uc001fvx.2	+	13	1674	c.1550C>T	c.(1549-1551)ACG>ATG	p.T517M	NCSTN_uc001fvy.2_Missense_Mutation_p.T497M|NCSTN_uc010pjf.1_Missense_Mutation_p.T379M|NCSTN_uc001fvz.2_Missense_Mutation_p.T297M|NCSTN_uc010pjg.1_Missense_Mutation_p.T259M	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	517	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATCCCCAAACGGTAAGCAGA	0.547												
USP21	27005	broad.mit.edu	37	1	161133984	161133984	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:161133984C>T	uc010pke.1	+	10	1626	c.1249C>T	c.(1249-1251)CGG>TGG	p.R417W	USP21_uc010pkc.1_Missense_Mutation_p.R417W|USP21_uc010pkd.1_Missense_Mutation_p.R417W|USP21_uc010pkf.1_Missense_Mutation_p.R417W|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyn.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc001fyl.2_5'Flank|PPOX_uc001fym.2_5'Flank|PPOX_uc001fyk.2_5'Flank|PPOX_uc001fyh.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc009wuc.1_5'Flank|PPOX_uc010pkh.1_5'Flank|PPOX_uc001fyi.2_5'Flank	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	417					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGTGTCTCTGCGGGATTGTTT	0.478												
FCRLB	127943	broad.mit.edu	37	1	161697204	161697204	+	Missense_Mutation	SNP	G	G	A	rs145348831		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:161697204G>A	uc001gbh.2	+	8	1267	c.1033G>A	c.(1033-1035)GGC>AGC	p.G345S	FCRLB_uc009wus.2_Missense_Mutation_p.G345S|FCRLB_uc001gbj.2_Silent_p.A296A|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Silent_p.A289A|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Missense_Mutation_p.G345S|FCRLB_uc001gbn.3_3'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	345						endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CCCGGCGAGCGGCGCCCCGAC	0.677												
POGK	57645	broad.mit.edu	37	1	166818871	166818871	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:166818871C>T	uc001gdt.1	+	5	1175	c.1055C>T	c.(1054-1056)GCG>GTG	p.A352V	POGK_uc010ple.1_Missense_Mutation_p.A267V|POGK_uc010plf.1_Missense_Mutation_p.A234V	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	352					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						CTGCGCAGGGCGCATGACTAT	0.557												
SELP	6403	broad.mit.edu	37	1	169586331	169586331	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:169586331G>A	uc001ggi.3	-	3	481	c.416C>T	c.(415-417)CCG>CTG	p.P139L	SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.P139L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	139	Extracellular (Potential).|C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AGGGGCTGACGGACTCTTGAT	0.463												
FMO4	2329	broad.mit.edu	37	1	171293332	171293332	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:171293332A>G	uc001gho.2	+	5	594	c.377A>G	c.(376-378)GAT>GGT	p.D126G		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	126					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGTCAGTGGGATGTTGTCACA	0.463												
C1orf9	51430	broad.mit.edu	37	1	172522402	172522402	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:172522402T>C	uc001giq.3	+	3	496	c.180T>C	c.(178-180)GAT>GAC	p.D60D	C1orf9_uc010pmm.1_Silent_p.D60D|C1orf9_uc009wwd.2_Intron|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	60					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		TTATATAGGATGAAAGAGAGG	0.303												
ASTN1	460	broad.mit.edu	37	1	177133690	177133690	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:177133690C>T	uc001glc.2	-	1	335	c.123G>A	c.(121-123)ACG>ACA	p.T41T	ASTN1_uc001glb.1_Silent_p.T41T|ASTN1_uc001gld.1_Silent_p.T41T|ASTN1_uc009wwx.1_Silent_p.T41T	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	41					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GTGCCGACACCGTGATGCTTT	0.677												
C1orf125	126859	broad.mit.edu	37	1	179363045	179363045	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:179363045T>C	uc001gmo.2	+	10	998	c.871T>C	c.(871-873)TAT>CAT	p.Y291H	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.Y79H|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.Y291H	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	291											0						CAGAGAGAGGTATGTGCAAAT	0.259												
TOR1AIP1	26092	broad.mit.edu	37	1	179887081	179887081	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:179887081G>T	uc001gnq.2	+	10	1677	c.1459G>T	c.(1459-1461)GGC>TGC	p.G487C		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	487	Lumenal (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2						ATTTCCCGCAGGCTCTACTTT	0.448												
XPR1	9213	broad.mit.edu	37	1	180794334	180794334	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:180794334A>C	uc001goi.2	+	9	1180	c.988A>C	c.(988-990)AGC>CGC	p.S330R	XPR1_uc009wxm.2_Missense_Mutation_p.S330R|XPR1_uc009wxn.2_Missense_Mutation_p.S330R	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	330	Helical; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						GTGGTGCCTGAGCCTTCTGGC	0.398												
DHX9	1660	broad.mit.edu	37	1	182848383	182848383	+	Splice_Site	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:182848383A>C	uc001gpr.2	+	21	2515	c.2352_splice	c.e21-2	p.R784_splice	DHX9_uc001gps.2_Splice_Site_p.R570_splice|DHX9_uc001gpt.2_Splice_Site_p.R63_splice|DHX9_uc009wyd.2_5'Flank	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9						CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						ATTTTCTCTTAGACTTGAAAC	0.393												
C1orf26	54823	broad.mit.edu	37	1	185171822	185171822	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:185171822T>C	uc001grg.3	+	11	1674	c.1560T>C	c.(1558-1560)AGT>AGC	p.S520S	C1orf26_uc001grh.3_Silent_p.S520S	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	520											0						GCCTAATAAGTGGTGTGAAGT	0.373												
PRG4	10216	broad.mit.edu	37	1	186278205	186278205	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:186278205T>C	uc001gru.3	+	7	3405	c.3354T>C	c.(3352-3354)GTT>GTC	p.V1118V	PRG4_uc001grt.3_Silent_p.V1077V|PRG4_uc009wyl.2_Silent_p.V1025V|PRG4_uc009wym.2_Silent_p.V984V|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1118					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						TGCCTGAAGTTACTCCCGACA	0.418												
KCNT2	343450	broad.mit.edu	37	1	196342340	196342340	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:196342340A>G	uc001gtd.1	-	14	1393	c.1333T>C	c.(1333-1335)TTA>CTA	p.L445L	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.L445L|KCNT2_uc001gtf.1_Silent_p.L445L|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.L445L|KCNT2_uc009wyv.1_Silent_p.L420L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	445	Cytoplasmic (Potential).|RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						TTTAAAGCTAACATGGCGTAT	0.299												
CFHR5	81494	broad.mit.edu	37	1	196964968	196964968	+	Silent	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:196964968A>T	uc001gts.3	+	5	857	c.729A>T	c.(727-729)ATA>ATT	p.I243I		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	243	Sushi 4.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						ATTTTATAATAAACGGGCCTA	0.343												
F13B	2165	broad.mit.edu	37	1	197032158	197032158	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:197032158T>A	uc001gtt.1	-	2	138	c.94A>T	c.(94-96)AAT>TAT	p.N32Y		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	32	Sushi 1.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						ATTCTTCCATTTTCCACATGA	0.323												
ASPM	259266	broad.mit.edu	37	1	197059338	197059338	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:197059338A>G	uc001gtu.2	-	24	10074	c.9817T>C	c.(9817-9819)TTA>CTA	p.L3273L	ASPM_uc001gtv.2_Silent_p.L1688L|ASPM_uc001gtw.3_Silent_p.L1121L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	3273					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						AGGTGTTTTAAGGCCTCAAGA	0.333												
ATP6V1G3	127124	broad.mit.edu	37	1	198492652	198492652	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:198492652G>T	uc001gup.2	-	4	332	c.226C>A	c.(226-228)CAA>AAA	p.Q76K	ATP6V1G3_uc009wzd.2_Missense_Mutation_p.Q82K|ATP6V1G3_uc001guo.2_3'UTR	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal, V1 subunit	76					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)	1						CCTAGTGTTTGTTCTTCTATT	0.343												
LGR6	59352	broad.mit.edu	37	1	202288142	202288142	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:202288142G>A	uc001gxu.2	+	18	2711	c.2711G>A	c.(2710-2712)TGT>TAT	p.C904Y	LGR6_uc001gxv.2_Missense_Mutation_p.C852Y|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.C765Y	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	904	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						CTCATCTCCTGTCAGCAGCCA	0.607												
DSTYK	25778	broad.mit.edu	37	1	205131199	205131199	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:205131199T>C	uc001hbw.2	-	6	1847	c.1783A>G	c.(1783-1785)AGT>GGT	p.S595G	DSTYK_uc001hbx.2_Missense_Mutation_p.S595G|DSTYK_uc001hby.1_Missense_Mutation_p.S56G	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	595						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						TCGTGGGAACTATTGAGCCGA	0.527												
MFSD4	148808	broad.mit.edu	37	1	205554060	205554060	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:205554060T>A	uc001hcv.3	+	5	1002	c.916T>A	c.(916-918)TCC>ACC	p.S306T	MFSD4_uc010prk.1_Missense_Mutation_p.S219T|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Missense_Mutation_p.S251T	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	306					transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			AGCCCCTTATTCCTTCTTTGC	0.597											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IKBKE	9641	broad.mit.edu	37	1	206669460	206669460	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:206669460A>G	uc001hdz.1	+	22	2501	c.2133A>G	c.(2131-2133)CCA>CCG	p.P711P	IKBKE_uc009xbv.1_3'UTR|IKBKE_uc001hea.1_Silent_p.P626P	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	711					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.P711S(1)		ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					ATAGAGTCCCAGCACCTCCTG	0.537												
DYRK3	8444	broad.mit.edu	37	1	206821426	206821426	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:206821426C>A	uc001hej.2	+	3	1051	c.883C>A	c.(883-885)CTT>ATT	p.L295I	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.L275I	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	295	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGCATAGACCTTTATGAGCT	0.418												
FAM71A	149647	broad.mit.edu	37	1	212799665	212799665	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:212799665G>T	uc001hjk.2	+	1	1850	c.1446G>T	c.(1444-1446)GGG>GGT	p.G482G	uc010pth.1_RNA	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	482										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GCAACCCGGGGAGCAGCAGGC	0.547												
NSL1	25936	broad.mit.edu	37	1	212960901	212960901	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:212960901C>A	uc001hjn.2	-	2	347	c.313G>T	c.(313-315)GAT>TAT	p.D105Y	NSL1_uc001hjm.2_Missense_Mutation_p.D105Y|NSL1_uc010pti.1_Missense_Mutation_p.D105Y	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN	NSL1, MIND kinetochore complex component isoform	105					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		AGTCACATACCCATAAAACAA	0.328												
KCNK2	3776	broad.mit.edu	37	1	215259855	215259855	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:215259855C>T	uc001hkq.2	+	2	360	c.191C>T	c.(190-192)ACG>ATG	p.T64M	KCNK2_uc001hko.2_Missense_Mutation_p.T60M|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.T49M	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	64	Helical; (Potential).						outward rectifier potassium channel activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ACGGTCTCCACGATATTCCTG	0.502												
USH2A	7399	broad.mit.edu	37	1	215987141	215987141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:215987141G>A	uc001hku.1	-	49	10063	c.9676C>T	c.(9676-9678)CGA>TGA	p.R3226*		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3226	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCTGTATTCGGCCACCACAA	0.453										HNSCC(13;0.011)		
TAF1A	9015	broad.mit.edu	37	1	222736617	222736617	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:222736617A>G	uc009xdz.1	-	9	1172	c.983T>C	c.(982-984)CTG>CCG	p.L328P	TAF1A_uc009xdy.1_Missense_Mutation_p.L19P|TAF1A_uc001hni.1_Missense_Mutation_p.L214P|TAF1A_uc001hnj.2_Missense_Mutation_p.L328P|TAF1A_uc001hnk.2_Missense_Mutation_p.L214P	NM_139352	NP_647603	Q15573	TAF1A_HUMAN	TBP-associated factor 1A isoform 2	328					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding				0				GBM - Glioblastoma multiforme(131;0.0186)		CTCCAACCCCAGTTTACGGTG	0.313												
MIA3	375056	broad.mit.edu	37	1	222827777	222827777	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:222827777A>G	uc001hnl.2	+	17	4433	c.4424A>G	c.(4423-4425)CAG>CGG	p.Q1475R	MIA3_uc009xea.1_Missense_Mutation_p.Q1252R|MIA3_uc001hnm.2_Missense_Mutation_p.Q353R	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1475	Cytoplasmic (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)		AAGCTTTTACAGCTTAAGCTA	0.358												
CAPN2	824	broad.mit.edu	37	1	223947066	223947066	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:223947066T>C	uc001hob.3	+	12	1636	c.1412T>C	c.(1411-1413)GTG>GCG	p.V471A	CAPN2_uc010puy.1_Missense_Mutation_p.V393A|CAPN2_uc001hoc.2_Missense_Mutation_p.V52A	NM_001748	NP_001739	P17655	CAN2_HUMAN	calpain 2 isoform 1	471	Domain III.				proteolysis	cytoplasm|plasma membrane				lung(3)|breast(1)|skin(1)	5				GBM - Glioblastoma multiforme(131;0.109)		CTCCGGGAGGTGCTCAACCGC	0.547												
ENAH	55740	broad.mit.edu	37	1	225707050	225707050	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:225707050G>A	uc001hpc.1	-	5	1105	c.652C>T	c.(652-654)CGG>TGG	p.R218W	ENAH_uc001hpd.1_Missense_Mutation_p.R218W	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	enabled homolog isoform a	218	Potential.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)|skin(1)	2	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		cgttcctgccgctccaggcgt	0.269												
OBSCN	84033	broad.mit.edu	37	1	228511060	228511060	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:228511060A>G	uc009xez.1	+	56	15449	c.15405A>G	c.(15403-15405)CAA>CAG	p.Q5135Q	OBSCN_uc001hsn.2_Silent_p.Q5135Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5135	Ig-like 49.				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)				TGCAGAACCAAGAAGTGCAGG	0.552												
AGT	183	broad.mit.edu	37	1	230846346	230846346	+	Missense_Mutation	SNP	A	A	G	rs61762540		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:230846346A>G	uc001hty.3	-	2	759	c.251T>C	c.(250-252)CTA>CCA	p.L84P	AGT_uc009xfe.2_Missense_Mutation_p.L84P|AGT_uc009xff.2_Missense_Mutation_p.L56P	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	84					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding				0	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CTGGTCCTGTAGGGCCTTTTC	0.557												
ARID4B	51742	broad.mit.edu	37	1	235345283	235345283	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:235345283A>G	uc001hwq.2	-	20	3449	c.2951T>C	c.(2950-2952)CTA>CCA	p.L984P	ARID4B_uc001hwr.2_Missense_Mutation_p.L898P|ARID4B_uc001hws.3_Missense_Mutation_p.L898P|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.L665P	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	984					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TGGTTTTTCTAGTTCTACACT	0.493												
NID1	4811	broad.mit.edu	37	1	236143154	236143154	+	Silent	SNP	G	G	A	rs115093040	by1000genomes	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:236143154G>A	uc001hxo.2	-	18	3579	c.3477C>T	c.(3475-3477)TAC>TAT	p.Y1159Y	NID1_uc009xgd.2_Silent_p.Y1026Y|NID1_uc009xgc.2_Silent_p.Y240Y	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	1159	LDL-receptor class B 4.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GATTCTTCCCGTAGCTCGTCA	0.597												
AHCTF1	25909	broad.mit.edu	37	1	247021071	247021071	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:247021071T>C	uc001ibu.1	-	29	4185	c.4178A>G	c.(4177-4179)GAG>GGG	p.E1393G	AHCTF1_uc001ibv.1_Missense_Mutation_p.E1402G|AHCTF1_uc009xgs.1_Missense_Mutation_p.E254G|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1393	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGAAAATGCCTCTGCTGCAAC	0.348												
ZNF496	84838	broad.mit.edu	37	1	247464040	247464040	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:247464040G>A	uc001ico.2	-	9	2010	c.1545C>T	c.(1543-1545)AAC>AAT	p.N515N	ZNF496_uc009xgv.2_Silent_p.N551N|ZNF496_uc001icp.2_Silent_p.N515N	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	515					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGCCTTGCCGTTTTCCAGCG	0.632												
OR2L2	26246	broad.mit.edu	37	1	248201652	248201652	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:248201652C>A	uc001idw.2	+	1	179	c.83C>A	c.(82-84)ACC>AAC	p.T28N	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	28	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_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)			TTCGTATTCACCCTCATTTTT	0.373												
OR2T6	254879	broad.mit.edu	37	1	248551111	248551111	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:248551111G>A	uc001iei.1	+	1	202	c.202G>A	c.(202-204)GTC>ATC	p.V68I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACCTCTCCGTCATTGACAC	0.498												
ZMYND11	10771	broad.mit.edu	37	10	267248	267248	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:267248G>C	uc010pzt.1	+	4	818	c.390G>C	c.(388-390)GAG>GAC	p.E130D	ZMYND11_uc001ifk.2_Missense_Mutation_p.E130D|ZMYND11_uc010pzu.1_Missense_Mutation_p.E130D|ZMYND11_uc010pzv.1_Intron|ZMYND11_uc010pzw.1_Intron|ZMYND11_uc001ifm.2_Intron|ZMYND11_uc010pzx.1_Missense_Mutation_p.E130D|ZMYND11_uc001ifn.2_Intron|ZMYND11_uc009xhg.2_Missense_Mutation_p.E113D|ZMYND11_uc009xhh.2_Intron|ZMYND11_uc010pzy.1_Intron	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	90	PHD-type.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTCTGATGAGTTCAGGCTTA	0.443												
GDI2	2665	broad.mit.edu	37	10	5827903	5827903	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:5827903T>C	uc001iil.3	-	5	790	c.499A>G	c.(499-501)ACA>GCA	p.T167A	GDI2_uc001iim.3_Missense_Mutation_p.T122A|GDI2_uc009xid.2_Missense_Mutation_p.T171A	NM_001494	NP_001485	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2 isoform 1	167					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0						TCTCGCATTGTGGTCTTCTTA	0.363												
CELF2	10659	broad.mit.edu	37	10	11356215	11356215	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:11356215C>T	uc001iki.3	+	10	1161	c.1069C>T	c.(1069-1071)CTA>TTA	p.L357L	CELF2_uc010qbi.1_Silent_p.L129L|CELF2_uc010qbj.1_Silent_p.L357L|CELF2_uc001ikk.2_Silent_p.L364L|CELF2_uc001ikl.3_Silent_p.L364L|CELF2_uc010qbl.1_Silent_p.L333L|CELF2_uc010qbm.1_Silent_p.L129L|CELF2_uc001iko.3_Silent_p.L333L|CELF2_uc001ikp.3_Silent_p.L333L|CELF2_uc010qbn.1_Silent_p.L341L|CELF2_uc010qbo.1_Silent_p.L246L|CELF2_uc010qbp.1_Silent_p.L129L	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	357	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|Ala-rich.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						TATTAATGCACTAGCAGGTAC	0.512												
CAMK1D	57118	broad.mit.edu	37	10	12870861	12870861	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:12870861C>T	uc001ilo.2	+	11	1368	c.1133C>T	c.(1132-1134)ACG>ATG	p.T378M		NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	378						calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|stomach(1)	2				GBM - Glioblastoma multiforme(1;3.16e-05)		ACCACTGTGACGGCAGTGCAC	0.667												
VIM	7431	broad.mit.edu	37	10	17277877	17277877	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:17277877T>C	uc001iou.2	+	8	1675	c.1262T>C	c.(1261-1263)CTG>CCG	p.L421P	VIM_uc001iov.1_Missense_Mutation_p.L421P|VIM_uc001iow.1_Intron|VIM_uc001iox.1_Missense_Mutation_p.L421P|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_Intron|VIM_uc009xjv.1_Missense_Mutation_p.L379P|VIM_uc001ipc.1_Missense_Mutation_p.L421P	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	421	Tail.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TTTTCCTCCCTGAACCTGAGG	0.368												
NEBL	10529	broad.mit.edu	37	10	21097468	21097468	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:21097468C>T	uc001iqi.2	-	26	3129	c.2732G>A	c.(2731-2733)AGT>AAT	p.S911N	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	911	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TGTTACCTCACTGCAGCATGA	0.433												
KIAA1217	56243	broad.mit.edu	37	10	24835164	24835164	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:24835164A>G	uc001iru.3	+	21	6146	c.5743A>G	c.(5743-5745)ACC>GCC	p.T1915A	KIAA1217_uc001irs.2_Missense_Mutation_p.T1236A|KIAA1217_uc001irt.3_Missense_Mutation_p.T1281A|KIAA1217_uc010qcy.1_Missense_Mutation_p.T1346A|KIAA1217_uc010qcz.1_Missense_Mutation_p.T1321A|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	1915					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						GGGCACCAGGACCATCCATAC	0.373												
ANKRD26	22852	broad.mit.edu	37	10	27306639	27306639	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:27306639T>C	uc001ith.2	-	30	4467	c.4295A>G	c.(4294-4296)GAG>GGG	p.E1432G	ANKRD26_uc001itg.2_Missense_Mutation_p.E1119G|ANKRD26_uc009xku.1_Missense_Mutation_p.E1433G	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1432	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						AGATAACAACTCCTCTTGAAG	0.333												
ANKRD26	22852	broad.mit.edu	37	10	27324065	27324065	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:27324065T>C	uc001ith.2	-	24	3483	c.3311A>G	c.(3310-3312)CAG>CGG	p.Q1104R	ANKRD26_uc001itg.2_Missense_Mutation_p.Q791R|ANKRD26_uc009xku.1_Missense_Mutation_p.Q1105R	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1104	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						CATTTGACACTGTGTTTGGCT	0.383												
YME1L1	10730	broad.mit.edu	37	10	27425268	27425268	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:27425268T>C	uc001iti.2	-	6	830	c.648A>G	c.(646-648)CGA>CGG	p.R216R	YME1L1_uc001itj.2_Silent_p.R159R|YME1L1_uc010qdl.1_Silent_p.R126R|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	216					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						ACTGGAGACGTCGTGTCCTTG	0.348												
ARMC4	55130	broad.mit.edu	37	10	28284024	28284024	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:28284024A>G	uc009xky.2	-	2	146	c.48T>C	c.(46-48)CAT>CAC	p.H16H	ARMC4_uc001itz.2_Silent_p.H16H	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	16							binding			ovary(4)|skin(2)	6						TTCCAGTTCCATGTCCGGCAG	0.468												
BMS1	9790	broad.mit.edu	37	10	43297643	43297643	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:43297643C>T	uc001jaj.2	+	13	2664	c.2306C>T	c.(2305-2307)GCA>GTA	p.A769V		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	769					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						GATAAAGATGCAGCCAAGGTC	0.408												
BMS1	9790	broad.mit.edu	37	10	43316002	43316002	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:43316002G>T	uc001jaj.2	+	17	3174	c.2816G>T	c.(2815-2817)CGA>CTA	p.R939L		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	939					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						CTCAAGTCCCGAGATCCAATC	0.453												
RET	5979	broad.mit.edu	37	10	43609082	43609082	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:43609082C>T	uc001jal.2	+	10	2028	c.1838C>T	c.(1837-1839)CCT>CTT	p.P613L	RET_uc001jak.1_Missense_Mutation_p.P613L|RET_uc010qez.1_Missense_Mutation_p.P359L	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	613	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.F612_C620del(1)		thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	AACTGCTTCCCTGAGGAGGAG	0.647		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma			
FRMPD2	143162	broad.mit.edu	37	10	49450202	49450202	+	Splice_Site	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:49450202A>G	uc001jgi.2	-	5	674	c.567_splice	c.e5+1	p.E189_splice	FRMPD2_uc001jgh.2_Splice_Site_p.E158_splice|FRMPD2_uc001jgj.2_Splice_Site_p.E167_splice	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		TTCTCTACTGACCTCAGAAAT	0.289												
C10orf72	196740	broad.mit.edu	37	10	50315772	50315772	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:50315772C>T	uc001jhf.2	-	2	353	c.324G>A	c.(322-324)GCG>GCA	p.A108A	C10orf72_uc001jhh.2_Silent_p.A108A	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	108	Ig-like.|Extracellular (Potential).					integral to membrane|plasma membrane					0						GCCTGTAGAGCGCCCCCCGCT	0.612												
PCDH15	65217	broad.mit.edu	37	10	55566601	55566601	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:55566601A>G	uc010qhq.1	-	36	5182	c.4787T>C	c.(4786-4788)TTA>TCA	p.L1596S	PCDH15_uc010qhr.1_Missense_Mutation_p.L1591S	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD3-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCCTTTGATAATGTGTTCAG	0.463										HNSCC(58;0.16)		
ARID5B	84159	broad.mit.edu	37	10	63851281	63851281	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:63851281A>G	uc001jlt.1	+	10	2085	c.2059A>G	c.(2059-2061)ATG>GTG	p.M687V		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	687					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					CCCAGGCATCATGTCCCCACT	0.527												
DNA2	1763	broad.mit.edu	37	10	70182529	70182529	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:70182529A>G	uc001jof.2	-	15	2585	c.2585T>C	c.(2584-2586)CTT>CCT	p.L862P	DNA2_uc001jog.1_Intron|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	776					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						TGAAAAAAAAAGGGGGCCCAG	0.418												
P4HA1	5033	broad.mit.edu	37	10	74834629	74834629	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:74834629T>C	uc010qka.1	-	3	347	c.13A>G	c.(13-15)ATA>GTA	p.I5V	P4HA1_uc001jtg.2_Missense_Mutation_p.I5V|P4HA1_uc001jth.2_Missense_Mutation_p.I5V|P4HA1_uc010qkb.1_Missense_Mutation_p.I5V|P4HA1_uc001jti.2_RNA	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha I subunit isoform 2	5						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATAATTAATATATACCAGATC	0.333												
NDST2	8509	broad.mit.edu	37	10	75564621	75564621	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:75564621A>G	uc001jvk.2	-	9	2557	c.1753T>C	c.(1753-1755)TGT>CGT	p.C585R	NDST2_uc010qks.1_Missense_Mutation_p.C211R|NDST2_uc010qkt.1_Missense_Mutation_p.C462R|NDST2_uc001jvl.1_5'Flank|NDST2_uc009xro.2_Missense_Mutation_p.C211R|NDST2_uc010qku.1_Missense_Mutation_p.C460R	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	585	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					TTGTCATCACAGGGATTCTGA	0.333												
AP3M1	26985	broad.mit.edu	37	10	75884257	75884257	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:75884257A>T	uc001jwf.2	-	8	1467	c.1037T>A	c.(1036-1038)ATT>AAT	p.I346N	AP3M1_uc001jwg.2_Missense_Mutation_p.I346N|AP3M1_uc001jwh.2_Missense_Mutation_p.I346N|AP3M1_uc010qla.1_Missense_Mutation_p.I292N	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	346	MHD.				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding				0	Prostate(51;0.0112)					TTGTGGAGTAATTTTTCCCAC	0.358												
MYST4	23522	broad.mit.edu	37	10	76780463	76780463	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:76780463A>G	uc001jwn.1	+	14	3246	c.2753A>G	c.(2752-2754)CAT>CGT	p.H918R	MYST4_uc001jwm.1_Missense_Mutation_p.H626R|MYST4_uc001jwo.1_Missense_Mutation_p.H626R|MYST4_uc001jwp.1_Missense_Mutation_p.H735R	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	918	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|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 factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					TACCACCACCATGAGAGGCAC	0.547			T	CREBBP	AML							
KCNMA1	3778	broad.mit.edu	37	10	79010963	79010963	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:79010963C>A	uc001jxn.2	-	3	769	c.592G>T	c.(592-594)GAT>TAT	p.D198Y	KCNMA1_uc001jxj.2_Missense_Mutation_p.D198Y|KCNMA1_uc009xrt.1_5'UTR|KCNMA1_uc001jxo.2_Missense_Mutation_p.D198Y|KCNMA1_uc001jxm.2_Missense_Mutation_p.D198Y|KCNMA1_uc001jxq.2_Missense_Mutation_p.D198Y	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	198	Helical; Name=Segment S1; (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TTTGATGAATCTATGAAGTAT	0.373											OREG0020289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CDHR1	92211	broad.mit.edu	37	10	85967975	85967975	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:85967975G>A	uc001kcv.2	+	11	1009	c.1009G>A	c.(1009-1011)GTC>ATC	p.V337I	CDHR1_uc001kcw.2_Missense_Mutation_p.V337I|CDHR1_uc009xst.2_Missense_Mutation_p.V96I	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	337	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						CCAGGCCACCGTCCCAGTCAC	0.577												
MMRN2	79812	broad.mit.edu	37	10	88717266	88717266	+	Silent	SNP	G	G	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:88717266G>C	uc001kea.2	-	1	160	c.33C>G	c.(31-33)GGC>GGG	p.G11G	MMRN2_uc010qmn.1_5'UTR|MMRN2_uc009xtb.2_Silent_p.G11G|SNCG_uc001keb.2_5'Flank	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	11						extracellular space				large_intestine(1)	1						AGCCCAGGGGGCCCCCAAGGC	0.622												
TNKS2	80351	broad.mit.edu	37	10	93579761	93579761	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:93579761T>C	uc001khp.2	+	6	996	c.699T>C	c.(697-699)CAT>CAC	p.H233H		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	233	ANK 4.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				TACTGCAACATGGAGCTGATG	0.318												
HELLS	3070	broad.mit.edu	37	10	96336485	96336485	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:96336485C>T	uc001kjt.2	+	10	1060	c.955C>T	c.(955-957)CGG>TGG	p.R319W	HELLS_uc001kjs.2_Missense_Mutation_p.R303W|HELLS_uc009xul.2_Missense_Mutation_p.R319W|HELLS_uc009xum.2_Intron|HELLS_uc009xun.2_Missense_Mutation_p.R195W|HELLS_uc009xuo.2_Missense_Mutation_p.R319W|HELLS_uc001kju.2_Intron|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.R181W|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	319	Helicase ATP-binding.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TATTTACAAACGGAAAGGGAC	0.348												
ALDH18A1	5832	broad.mit.edu	37	10	97373858	97373858	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:97373858T>C	uc001kkz.2	-	14	1908	c.1666A>G	c.(1666-1668)ATT>GTT	p.I556V	ALDH18A1_uc001kky.2_Missense_Mutation_p.I554V|ALDH18A1_uc010qog.1_Missense_Mutation_p.I445V|ALDH18A1_uc010qoh.1_Missense_Mutation_p.I344V	NM_002860	NP_002851	P54886	P5CS_HUMAN	pyrroline-5-carboxylate synthetase isoform 1	556	Gamma-glutamyl phosphate reductase.				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)	CCACGTGGAATGATCAGATCT	0.448												
C10orf28	27291	broad.mit.edu	37	10	100003868	100003868	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:100003868A>G	uc001kow.3	+	9	2585	c.2290A>G	c.(2290-2292)AAG>GAG	p.K764E	C10orf28_uc001kox.3_Missense_Mutation_p.K778E|C10orf28_uc001koy.3_Missense_Mutation_p.K764E|C10orf28_uc009xvx.2_Missense_Mutation_p.K764E|C10orf28_uc009xvy.2_Missense_Mutation_p.K170E|C10orf28_uc001koz.3_RNA	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	growth inhibition and differentiation related	764							nucleotide binding			large_intestine(1)|skin(1)	2		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		GTTGGAAGCCAAGCAACGGGA	0.403												
PKD2L1	9033	broad.mit.edu	37	10	102051105	102051105	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:102051105C>A	uc001kqx.1	-	12	2343	c.1960G>T	c.(1960-1962)GAT>TAT	p.D654Y	PKD2L1_uc009xwm.1_Missense_Mutation_p.D607Y	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	654	Potential.|Cytoplasmic (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCTTCTCATCCAGAATACGA	0.507												
LBX1	10660	broad.mit.edu	37	10	102988546	102988546	+	Silent	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:102988546C>A	uc001ksx.2	-	1	172	c.27G>T	c.(25-27)GCG>GCT	p.A9A	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	9					muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		CCCCCGGCGCCGCCTTGCCGT	0.488												
BTRC	8945	broad.mit.edu	37	10	103295124	103295124	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:103295124G>A	uc001kta.2	+	11	1474	c.1361G>A	c.(1360-1362)AGT>AAT	p.S454N	BTRC_uc001ktb.2_Missense_Mutation_p.S418N|BTRC_uc001ktc.2_Missense_Mutation_p.S428N	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	454	WD 4.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TGGAACACAAGTACTTGTGAA	0.413												
HPS6	79803	broad.mit.edu	37	10	103826899	103826899	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:103826899A>G	uc001kuj.2	+	1	1753	c.1668A>G	c.(1666-1668)GAA>GAG	p.E556E		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	556						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CTGGAAAGGAACCCCCCAATG	0.592									Hermansky-Pudlak_syndrome			
SUFU	51684	broad.mit.edu	37	10	104377154	104377154	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:104377154A>G	uc001kvy.1	+	10	1411	c.1265A>G	c.(1264-1266)CAT>CGT	p.H422R	SUFU_uc001kvw.1_Missense_Mutation_p.H422R|SUFU_uc001kvx.2_Missense_Mutation_p.H422R|SUFU_uc009xxe.1_Intron|SUFU_uc009xxf.1_RNA	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	suppressor of fused	422					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			central_nervous_system(4)|skin(2)|breast(1)	7		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACTGAGGAGCATCCTTACGCG	0.532			D|F|S		medulloblastoma	medulloblastoma			Medulloblastoma_associated_with_Germline_SUFU_Mutation			
SORCS3	22986	broad.mit.edu	37	10	106959852	106959852	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:106959852A>G	uc001kyi.1	+	15	2332	c.2105A>G	c.(2104-2106)CAG>CGG	p.Q702R	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	702	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGGACTATCAGACCTGGCAC	0.532												
NRAP	4892	broad.mit.edu	37	10	115413781	115413781	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:115413781T>G	uc001laj.2	-	5	628	c.464A>C	c.(463-465)GAG>GCG	p.E155A	NRAP_uc001lak.2_Missense_Mutation_p.E155A|NRAP_uc001lal.3_Missense_Mutation_p.E155A	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	155						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGTGCTTACCTCACCAAGAGA	0.413												
TRUB1	142940	broad.mit.edu	37	10	116702484	116702484	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:116702484G>A	uc001lcd.2	+	2	428	c.367G>A	c.(367-369)GCA>ACA	p.A123T	TRUB1_uc010qsl.1_Missense_Mutation_p.A25T	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	123					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TCTAGACAGCGCAGCCCGAGG	0.448												
PPAPDC1A	196051	broad.mit.edu	37	10	122348993	122348993	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:122348993G>A	uc001lev.1	+	7	1147	c.795G>A	c.(793-795)GGG>GGA	p.G265G	PPAPDC1A_uc009xzl.1_Silent_p.G202G|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_3'UTR|PPAPDC1A_uc001ley.1_Silent_p.G144G	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain	265					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)	1		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CTCTGGAGGGGATCACCGAAG	0.557												
BTBD16	118663	broad.mit.edu	37	10	124050682	124050682	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:124050682T>G	uc001lgc.1	+	7	814	c.563T>G	c.(562-564)ATC>AGC	p.I188S	BTBD16_uc001lgd.1_Missense_Mutation_p.I187S	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	188	BTB.									skin(1)	1		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TCCGCCCACATCCTCCAGTTC	0.572												
C10orf90	118611	broad.mit.edu	37	10	128193497	128193497	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:128193497C>T	uc001ljq.2	-	3	393	c.272G>A	c.(271-273)CGC>CAC	p.R91H	C10orf90_uc001ljp.2_Missense_Mutation_p.R44H|C10orf90_uc010qum.1_Missense_Mutation_p.R188H|C10orf90_uc009yao.2_Missense_Mutation_p.R188H|C10orf90_uc001ljs.1_Missense_Mutation_p.R44H	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	91										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GACTCCGCTGCGGTTAGCCAG	0.552												
FOXI2	399823	broad.mit.edu	37	10	129537128	129537128	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:129537128A>G	uc009yas.2	+	2	856	c.856A>G	c.(856-858)ACC>GCC	p.T286A	uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	286					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				CGCTCCCCAGACCCTTAACCC	0.706												
DPYSL4	10570	broad.mit.edu	37	10	134014423	134014423	+	Missense_Mutation	SNP	C	C	T	rs148495220	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:134014423C>T	uc009ybb.2	+	10	1200	c.1046C>T	c.(1045-1047)GCG>GTG	p.A349V		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	349					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GACAACTTCGCGCTGATCCCC	0.647												
MUC5B	727897	broad.mit.edu	37	11	1272703	1272703	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:1272703G>A	uc009ycr.1	+	52	15685	c.15559G>A	c.(15559-15561)GCC>ACC	p.A5187T	MUC5B_uc001ltb.2_Missense_Mutation_p.A4868T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4865	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGTTCCACGGCCACCGCCTC	0.647												
MUC5B	727897	broad.mit.edu	37	11	1275371	1275371	+	Silent	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:1275371C>A	uc009ycr.1	+	55	16398	c.16272C>A	c.(16270-16272)ACC>ACA	p.T5424T	MUC5B_uc001ltb.2_Silent_p.T5092T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5089	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)		TTGACGGCACCTCTTACACCT	0.602												
KRTAP5-5	439915	broad.mit.edu	37	11	1651322	1651322	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:1651322T>C	uc001lty.2	+	1	290	c.252T>C	c.(250-252)TGT>TGC	p.C84C		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	84	8 X 4 AA repeats of C-C-X-P.					keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTCCAGCTGTGGCAAAGGGG	0.542												
OR52R1	119695	broad.mit.edu	37	11	4825323	4825323	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:4825323C>T	uc010qym.1	-	1	525	c.525G>A	c.(523-525)CAG>CAA	p.Q175Q		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	96	Extracellular (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)		AGGCATGGTACTGAATCTCAT	0.522												
OR51S1	119692	broad.mit.edu	37	11	4869564	4869564	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:4869564G>T	uc010qyo.1	-	1	875	c.875C>A	c.(874-876)CCA>CAA	p.P292Q		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	292	Helical; Name=7; (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)		GTTTATCAATGGAGGAAGAAG	0.443												
OR51L1	119682	broad.mit.edu	37	11	5020966	5020966	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:5020966A>G	uc010qyu.1	+	1	754	c.754A>G	c.(754-756)ATC>GTC	p.I252V		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTGGTGCTTATCTTCTTTGT	0.443												
OR51I2	390064	broad.mit.edu	37	11	5474940	5474940	+	Silent	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:5474940C>A	uc010qzf.1	+	1	222	c.222C>A	c.(220-222)TCC>TCA	p.S74S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCCATATCCATGGCCACAC	0.498												
TRIM5	85363	broad.mit.edu	37	11	5701098	5701098	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:5701098G>A	uc001mbm.1	-	2	567	c.310C>T	c.(310-312)CTC>TTC	p.L104F	TRIM5_uc001mbq.1_Missense_Mutation_p.L104F|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.L104F|TRIM5_uc001mbo.2_Missense_Mutation_p.L104F|TRIM5_uc001mbp.2_Missense_Mutation_p.L104F	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	104	B box-type.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TGACAGAAGAGTAGAAGTTTC	0.552												
OR52E8	390079	broad.mit.edu	37	11	5878034	5878034	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:5878034C>A	uc010qzr.1	-	1	899	c.899G>T	c.(898-900)AGG>ATG	p.R300M	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTTTGTCCTGACTCCATA	0.428												
NRIP3	56675	broad.mit.edu	37	11	9005620	9005620	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:9005620T>C	uc001mhg.2	-	5	728	c.614A>G	c.(613-615)AAG>AGG	p.K205R	NRIP3_uc010rbu.1_3'UTR	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	205					proteolysis		aspartic-type endopeptidase activity				0				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CAATCTTACCTTCAGAGATCG	0.393												
SCUBE2	57758	broad.mit.edu	37	11	9100944	9100944	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:9100944A>G	uc001mhh.1	-	3	449	c.369T>C	c.(367-369)GGT>GGC	p.G123G	SCUBE2_uc001mhi.1_Silent_p.G123G|SCUBE2_uc001mhj.1_Silent_p.G123G	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	123	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GACAATTATGACCGTCATGAG	0.443												
SBF2	81846	broad.mit.edu	37	11	9875116	9875116	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:9875116T>C	uc001mib.2	-	20	2645	c.2507A>G	c.(2506-2508)CAC>CGC	p.H836R	SBF2_uc001mif.3_Missense_Mutation_p.H592R|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	836					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GCTCTTGATGTGATCCTGAGT	0.378												
CTR9	9646	broad.mit.edu	37	11	10785668	10785668	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:10785668A>G	uc001mja.2	+	10	1353	c.1204A>G	c.(1204-1206)AAG>GAG	p.K402E		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	402					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGGCCATTTGAAGAAGGTCAC	0.353												
MICAL2	9645	broad.mit.edu	37	11	12245002	12245002	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:12245002C>T	uc001mjz.2	+	12	1782	c.1494C>T	c.(1492-1494)CTC>CTT	p.L498L	MICAL2_uc010rch.1_Silent_p.L498L|MICAL2_uc001mka.2_Silent_p.L498L|MICAL2_uc010rci.1_Silent_p.L498L|MICAL2_uc001mkb.2_Silent_p.L498L|MICAL2_uc001mkc.2_Silent_p.L498L|MICAL2_uc001mkd.2_Silent_p.L327L|MICAL2_uc010rcj.1_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	498						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		ACTACCCTCTCGAGAGACTGG	0.557												
COPB1	1315	broad.mit.edu	37	11	14498463	14498463	+	Splice_Site	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:14498463A>G	uc001mli.2	-	12	1762	c.1455_splice	c.e12+1	p.E485_splice	COPB1_uc001mlg.2_Splice_Site_p.E485_splice|COPB1_uc001mlh.2_Splice_Site_p.E485_splice	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1						COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						AGTAAAACATACCTCTCCAAG	0.363												
PDE3B	5140	broad.mit.edu	37	11	14865502	14865502	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:14865502C>T	uc001mln.2	+	12	2803	c.2450C>T	c.(2449-2451)GCA>GTA	p.A817V	PDE3B_uc010rcr.1_Missense_Mutation_p.A766V	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	817	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						CTATACGTGGCAGCTGCCATG	0.413												
ABCC8	6833	broad.mit.edu	37	11	17419241	17419241	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:17419241T>C	uc001mnc.2	-	31	3983	c.3857A>G	c.(3856-3858)TAC>TGC	p.Y1286C		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1286	Helical; Name=17; (By similarity).|ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CATTAGGGCGTAGGTAAGGCC	0.627												
ABCC8	6833	broad.mit.edu	37	11	17424231	17424231	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:17424231T>C	uc001mnc.2	-	29	3753	c.3627A>G	c.(3625-3627)GGA>GGG	p.G1209G		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1209	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGGTGGTGAGTCCTTCTACGG	0.517												
MRGPRX1	259249	broad.mit.edu	37	11	18956195	18956195	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:18956195G>A	uc001mpg.2	-	1	355	c.137C>T	c.(136-138)GCA>GTA	p.A46V		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	46	Helical; Name=1; (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						GAGCACAACTGCGTTTCCTGT	0.582												
PAX6	5080	broad.mit.edu	37	11	31812409	31812409	+	Splice_Site	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:31812409C>T	uc001mtd.3	-	11	1923	c.1033_splice	c.e11-1	p.P345_splice	PAX6_uc001mte.3_Splice_Site_p.P345_splice|PAX6_uc001mtg.3_Splice_Site_p.P359_splice|PAX6_uc001mtf.3_Splice_Site_p.P345_splice|PAX6_uc001mth.3_Splice_Site_p.P345_splice|PAX6_uc009yjr.2_Splice_Site_p.P345_splice	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a						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)					GGACTGGGGGCTGTGAGGAGA	0.587									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation			
PRR5L	79899	broad.mit.edu	37	11	36458986	36458986	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:36458986A>T	uc001mwo.3	+	6	793	c.404A>T	c.(403-405)GAG>GTG	p.E135V	PRR5L_uc001mwp.2_Missense_Mutation_p.E135V|PRR5L_uc009ykk.2_Missense_Mutation_p.E54V|PRR5L_uc010rfc.1_Missense_Mutation_p.E135V	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN	protor-2 isoform a	135										ovary(1)	1						TTCTTCACTGAGACTCTCCCT	0.498												
C11orf74	119710	broad.mit.edu	37	11	36654929	36654929	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:36654929T>C	uc001mwy.1	+	3	305	c.232T>C	c.(232-234)TAC>CAC	p.Y78H	C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Intron|C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Intron|C11orf74_uc010rfe.1_RNA	NM_138787	NP_620142	Q86VG3	CK074_HUMAN	hypothetical protein LOC119710	78											0	all_lung(20;0.226)	all_hematologic(20;0.0118)				AGCAGATGACTACCATCTTAG	0.348												
ALX4	60529	broad.mit.edu	37	11	44286581	44286581	+	Silent	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:44286581A>C	uc001myb.2	-	4	1163	c.1059T>G	c.(1057-1059)TCT>TCG	p.S353S		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	353					hair follicle development						0						TGCCAGCCCCAGACACACTCA	0.687												
CREB3L1	90993	broad.mit.edu	37	11	46329501	46329501	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:46329501A>G	uc001ncf.2	+	3	901	c.466A>G	c.(466-468)ACC>GCC	p.T156A		NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like	156	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	soft_tissue(6)|ovary(2)	8				GBM - Glioblastoma multiforme(35;0.0285)		CATGGCCACCACCCCGCTGCT	0.697			T	FUS	myxofibrosarcoma							
NUP160	23279	broad.mit.edu	37	11	47827804	47827804	+	Missense_Mutation	SNP	A	A	T	rs144790017		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:47827804A>T	uc001ngm.2	-	20	2592	c.2507T>A	c.(2506-2508)ATA>AAA	p.I836K	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	836					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						GAGGTGAGATATAATGTGTTT	0.368												
OR4X2	119764	broad.mit.edu	37	11	48266720	48266720	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:48266720T>C	uc001ngs.1	+	1	65	c.65T>C	c.(64-66)ATA>ACA	p.I22T		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	22	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGCTTTGTGATATTTCTGTTC	0.453												
OR5D13	390142	broad.mit.edu	37	11	55541797	55541797	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:55541797G>T	uc010ril.1	+	1	884	c.884G>T	c.(883-885)AGG>ATG	p.R295M		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				TACAGCCTTAGGAACAAAGAT	0.348												
OR4D11	219986	broad.mit.edu	37	11	59271395	59271395	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:59271395C>G	uc001noa.1	+	1	347	c.347C>G	c.(346-348)TCT>TGT	p.S116C		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TTTTCTCTCTCTGTGATGGCG	0.488												
MS4A2	2206	broad.mit.edu	37	11	59857235	59857235	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:59857235T>G	uc001nop.2	+	2	229	c.127T>G	c.(127-129)TCA>GCA	p.S43A	MS4A2_uc009ymu.2_Missense_Mutation_p.S43A	NM_000139	NP_000130	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member	43	Cytoplasmic (Potential).				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			ovary(1)	1		all_epithelial(135;0.245)			Omalizumab(DB00043)	GAAGTCGGCCTCATCCCCACC	0.463												
FTH1	2495	broad.mit.edu	37	11	61732984	61732984	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:61732984A>G	uc001nsu.2	-	2	353	c.118T>C	c.(118-120)TAC>CAC	p.Y40H		NM_002032	NP_002023	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	40	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			ovary(1)	1					Iron Dextran(DB00893)	TCAAAGTAGTAAGACTGAAAG	0.473												
TUT1	64852	broad.mit.edu	37	11	62348933	62348933	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:62348933A>G	uc001nto.2	-	3	666	c.628T>C	c.(628-630)TTG>CTG	p.L210L		NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	172					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2						GCCTCGGACAACTCCCTCAGC	0.602												
HRASLS5	117245	broad.mit.edu	37	11	63233754	63233754	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:63233754C>T	uc001nwy.2	-	5	749	c.575G>A	c.(574-576)TGC>TAC	p.C192Y	HRASLS5_uc001nwz.2_Missense_Mutation_p.C182Y|HRASLS5_uc010rmq.1_Missense_Mutation_p.C192Y|HRASLS5_uc009yos.2_RNA	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5 isoform 1	192										ovary(1)	1						CTTCCAGGAGCAGCCATGCAG	0.517												
RTN3	10313	broad.mit.edu	37	11	63486576	63486576	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:63486576C>T	uc001nxq.2	+	3	789	c.602C>T	c.(601-603)GCT>GTT	p.A201V	RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.A182V|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.A89V|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	201					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1						GCATTGGATGCTGATGACAGA	0.403												
RCOR2	283248	broad.mit.edu	37	11	63681570	63681570	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:63681570G>A	uc001nyc.2	-	8	1135	c.747C>T	c.(745-747)CGC>CGT	p.R249R		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)|skin(1)	2						AGGGATGGTGGCGGTACTGAG	0.637												
CDC42BPG	55561	broad.mit.edu	37	11	64606559	64606559	+	Silent	SNP	C	C	T	rs56393929		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:64606559C>T	uc001obs.3	-	7	822	c.822G>A	c.(820-822)ACG>ACA	p.T274T		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	274	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						CATAGAAGGGCGTCTCCCCAA	0.612												
ATG2A	23130	broad.mit.edu	37	11	64677288	64677288	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:64677288G>T	uc001obx.2	-	14	2087	c.1972C>A	c.(1972-1974)CCC>ACC	p.P658T		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	658							protein binding			ovary(1)|central_nervous_system(1)	2						CCCGCCCAGGGGTCCGGCTCA	0.711												
EHBP1L1	254102	broad.mit.edu	37	11	65349955	65349955	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:65349955A>G	uc001oeo.3	+	9	2077	c.1812A>G	c.(1810-1812)ATA>ATG	p.I604M	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	604	Glu-rich.									central_nervous_system(1)	1						AAATTGAGATATTGGGGGCCT	0.537												
RELA	5970	broad.mit.edu	37	11	65425862	65425862	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:65425862G>A	uc001ofg.2	-	8	913	c.773C>T	c.(772-774)GCA>GTA	p.A258V	RELA_uc001ofh.2_Missense_Mutation_p.A255V|RELA_uc010ron.1_Missense_Mutation_p.A269V|RELA_uc009yqr.2_Missense_Mutation_p.A205V|RELA_uc001ofe.2_Missense_Mutation_p.A258V|RELA_uc001off.2_Missense_Mutation_p.A258V|RELA_uc009yqs.1_Intron	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene	258	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			lung(3)|ovary(1)	4						GCTGGGGTCTGCGTAGGGAGG	0.627												
GAL3ST3	89792	broad.mit.edu	37	11	65810644	65810644	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:65810644G>A	uc001ogv.2	-	2	790	c.630C>T	c.(628-630)GGC>GGT	p.G210G	GAL3ST3_uc001ogw.2_Silent_p.G210G	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	210	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1						CATTGTCGCCGCCCAGGTCGT	0.677												
PACS1	55690	broad.mit.edu	37	11	66002804	66002804	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:66002804T>C	uc001oha.1	+	18	2271	c.2137T>C	c.(2137-2139)TAC>CAC	p.Y713H	PACS1_uc010rou.1_Missense_Mutation_p.Y249H	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	713					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						GGTGATGCAGTACGTCAACGG	0.547												
KLC2	64837	broad.mit.edu	37	11	66026206	66026206	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:66026206C>T	uc010rov.1	+	2	384	c.141C>T	c.(139-141)GCC>GCT	p.A47A	KLC2_uc010row.1_Silent_p.A47A|KLC2_uc009yra.2_Silent_p.A47A|KLC2_uc001ohb.2_Silent_p.A47A|KLC2_uc010rox.1_Silent_p.A47A|KLC2_uc001ohc.2_Silent_p.A47A|KLC2_uc001ohd.2_Silent_p.A47A|KLC2_uc001ohe.1_5'Flank	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	47					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0						CACCTGAGGCCGGCGAAGCCG	0.657											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CCDC87	55231	broad.mit.edu	37	11	66360309	66360309	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:66360309T>C	uc001oiq.3	-	1	246	c.178A>G	c.(178-180)AGC>GGC	p.S60G	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	60										ovary(1)|skin(1)	2						GCCACCTGGCTGCACAGCGAC	0.662											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PC	5091	broad.mit.edu	37	11	66618281	66618281	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:66618281G>A	uc001ojn.1	-	16	2386	c.2337C>T	c.(2335-2337)GGC>GGT	p.G779G	PC_uc001ojo.1_Silent_p.G779G|PC_uc001ojp.1_Silent_p.G779G|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	779	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TGGCTGCCACGCCTGCCCCTG	0.657												
RPS6KB2	6199	broad.mit.edu	37	11	67200863	67200863	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:67200863G>T	uc001old.2	+	10	933	c.851G>T	c.(850-852)GGC>GTC	p.G284V	RPS6KB2_uc001olf.2_Missense_Mutation_p.G84V|RPS6KB2_uc001olg.2_Missense_Mutation_p.G284V|RPS6KB2_uc009yrq.2_Missense_Mutation_p.G84V|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_Intron|RPS6KB2_uc009yrr.2_Missense_Mutation_p.G115V	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	284	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ATCATCAGGGGCAAGCTGGCA	0.617												
UNC93B1	81622	broad.mit.edu	37	11	67766651	67766651	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:67766651A>G	uc001omw.1	-	5	759	c.679T>C	c.(679-681)TTC>CTC	p.F227L		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1	227	Helical; (Potential).				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome					0						ACATGGAAGAAGCTGTAGAAG	0.602												
ANO1	55107	broad.mit.edu	37	11	70028683	70028683	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:70028683A>G	uc001opj.2	+	24	2784	c.2479A>G	c.(2479-2481)ATG>GTG	p.M827V	ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.M536V|ANO1_uc010rql.1_Missense_Mutation_p.M1V	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	827	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						GAACGGGACCATGCACGGCTT	0.592												
P2RY2	5029	broad.mit.edu	37	11	72945484	72945484	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:72945484G>A	uc001otj.2	+	3	613	c.280G>A	c.(280-282)GCC>ACC	p.A94T	P2RY2_uc001otk.2_Missense_Mutation_p.A94T|P2RY2_uc001otl.2_Missense_Mutation_p.A94T	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	94	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	CTATTACTACGCCCGCGGCGA	0.582												
C2CD3	26005	broad.mit.edu	37	11	73806439	73806439	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:73806439T>C	uc001ouu.2	-	17	3221	c.2994A>G	c.(2992-2994)GGA>GGG	p.G998G		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	998						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					TCAGTCCATTTCCTCGGTCCT	0.428												
B3GNT6	192134	broad.mit.edu	37	11	76750860	76750860	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:76750860A>G	uc001oxw.2	+	2	353	c.265A>G	c.(265-267)ATC>GTC	p.I89V		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	89	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						GCCCGCGCGCATCCAGGACTT	0.746												
ODZ4	26011	broad.mit.edu	37	11	78369151	78369151	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:78369151G>A	uc001ozl.3	-	34	8725	c.8262C>T	c.(8260-8262)AGC>AGT	p.S2754S	ODZ4_uc001ozk.3_Silent_p.S979S|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2754	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						TGTTGTTGGCGCTGTCTGACA	0.567												
SESN3	143686	broad.mit.edu	37	11	94918548	94918548	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:94918548T>C	uc001pfk.1	-	5	856	c.634A>G	c.(634-636)ATC>GTC	p.I212V	SESN3_uc010rug.1_Missense_Mutation_p.I73V|SESN3_uc001pfl.2_Missense_Mutation_p.I212V	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	212					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCTGGATTGATACCACTACCA	0.408												
PGR	5241	broad.mit.edu	37	11	100999009	100999009	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:100999009C>T	uc001pgh.2	-	1	1536	c.793G>A	c.(793-795)GTC>ATC	p.V265I	PGR_uc001pgi.2_Missense_Mutation_p.V265I|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	265	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	ACCAGGGCGACGCCTCCTGCT	0.751												
DYNC2H1	79659	broad.mit.edu	37	11	103178458	103178458	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:103178458T>C	uc001pho.2	+	78	11535	c.11391T>C	c.(11389-11391)AAT>AAC	p.N3797N	DYNC2H1_uc001phn.1_Silent_p.N3804N|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3797	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGGAATTGAATACTCTTCAAC	0.279												
SLC35F2	54733	broad.mit.edu	37	11	107676145	107676145	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:107676145C>T	uc001pjq.2	-	5	1092	c.671G>A	c.(670-672)AGC>AAC	p.S224N	SLC35F2_uc010rvu.1_Missense_Mutation_p.S76N|SLC35F2_uc001pjs.2_3'UTR	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	224					transport	integral to membrane				central_nervous_system(1)	1		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CTCCTGTCTGCTCAGCTTCTT	0.403												
PPP2R1B	5519	broad.mit.edu	37	11	111612831	111612831	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:111612831A>G	uc001plx.1	-	14	1819	c.1735T>C	c.(1735-1737)TTA>CTA	p.L579L	PPP2R1B_uc001plw.1_Silent_p.L579L|PPP2R1B_uc010rwi.1_Silent_p.L515L|PPP2R1B_uc010rwj.1_Silent_p.L418L|PPP2R1B_uc010rwk.1_Silent_p.L534L|PPP2R1B_uc010rwl.1_Silent_p.L452L	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	579	HEAT 15.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-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)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCTTGACCTAACTTCTGTAGT	0.393												
C11orf52	91894	broad.mit.edu	37	11	111796714	111796714	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:111796714C>T	uc001pmh.2	+	5	646	c.163C>T	c.(163-165)CGG>TGG	p.R55W	C11orf52_uc001pmi.2_Missense_Mutation_p.R55W	NM_080659	NP_542390	Q96A22	CK052_HUMAN	hypothetical protein LOC91894	55										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)		TACGTATGAACGGGTGTTACA	0.517												
DSCAML1	57453	broad.mit.edu	37	11	117374594	117374594	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:117374594G>T	uc001prh.1	-	11	2507	c.2505C>A	c.(2503-2505)ACC>ACA	p.T835T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	775	Extracellular (Potential).|Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTGATGTCGGTGCCTACGC	0.612												
VPS11	55823	broad.mit.edu	37	11	118947751	118947751	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:118947751T>C	uc010ryx.1	+	9	1425	c.1383T>C	c.(1381-1383)TAT>TAC	p.Y461Y	VPS11_uc010ryy.1_Silent_p.Y307Y	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	461	Clathrin.				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TCAACTGCTATACCAAGCTCA	0.577												
OR8B4	283162	broad.mit.edu	37	11	124294529	124294529	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:124294529T>C	uc010sak.1	-	1	239	c.239A>G	c.(238-240)AAA>AGA	p.K80R		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	80	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATTCAGCATTTTGGGGGTAAA	0.378												
SPA17	53340	broad.mit.edu	37	11	124561622	124561622	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:124561622A>C	uc001qap.2	+	4	392	c.256A>C	c.(256-258)AAA>CAA	p.K86Q		NM_017425	NP_059121	Q15506	SP17_HUMAN	sperm autoantigenic protein 17	86					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		AAGTGATCCTAAACAAGAAGA	0.388												
CDON	50937	broad.mit.edu	37	11	125887121	125887121	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:125887121G>T	uc009zbw.2	-	6	918	c.790C>A	c.(790-792)CCA>ACA	p.P264T	CDON_uc001qdc.3_Missense_Mutation_p.P264T|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Missense_Mutation_p.P264T	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	264	Extracellular (Potential).|Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTGCTTCCTGGTGCAATGTCC	0.532												
FOXRED1	55572	broad.mit.edu	37	11	126145767	126145767	+	Splice_Site	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:126145767T>C	uc001qdi.2	+	7	857	c.810_splice	c.e7+2	p.H270_splice	FOXRED1_uc010sbn.1_Splice_Site_p.H100_splice|FOXRED1_uc010sbo.1_Splice_Site|FOXRED1_uc010sbp.1_Splice_Site_p.H83_splice|FOXRED1_uc010sbq.1_Splice_Site_p.H137_splice|FOXRED1_uc001qdj.2_Splice_Site_p.H59_splice|FOXRED1_uc010sbr.1_Splice_Site_p.H256_splice|FOXRED1_uc001qdk.2_Splice_Site_p.H59_splice	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing							integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GAAGTCCATGTAAGTTTCTAG	0.373												
ARHGAP32	9743	broad.mit.edu	37	11	128840436	128840436	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:128840436C>T	uc009zcp.2	-	22	4630	c.4630G>A	c.(4630-4632)GCA>ACA	p.A1544T	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.A503T|ARHGAP32_uc001qez.2_Missense_Mutation_p.A1195T	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1544	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TGTCCAGATGCGTTTCTTCCT	0.517												
NFRKB	4798	broad.mit.edu	37	11	129739494	129739494	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:129739494T>C	uc001qfi.2	-	24	3627	c.3426A>G	c.(3424-3426)GTA>GTG	p.V1142V	NFRKB_uc001qfg.2_Silent_p.V1167V|NFRKB_uc001qfh.2_Silent_p.V1165V|NFRKB_uc010sbw.1_Silent_p.V1152V|NFRKB_uc009zcr.2_Silent_p.V428V	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1142					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AAGCCACAGCTACAGTCTTGG	0.622												
EFCAB4B	84766	broad.mit.edu	37	12	3788146	3788146	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:3788146G>A	uc001qmj.2	-	6	1031	c.459C>T	c.(457-459)GGC>GGT	p.G153G	EFCAB4B_uc010sen.1_Silent_p.G153G|EFCAB4B_uc010seo.1_Silent_p.G153G	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform c	153					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CCTCATCTTCGCCCATGTCGC	0.527												
ANO2	57101	broad.mit.edu	37	12	5708775	5708775	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:5708775C>T	uc001qnm.2	-	21	2180	c.2108G>A	c.(2107-2109)CGA>CAA	p.R703Q		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	708	Extracellular (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						TTTCAGCTTTCGAAATAGTTT	0.423												
NOP2	4839	broad.mit.edu	37	12	6670152	6670152	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:6670152C>T	uc001qph.1	-	12	1460	c.1280G>A	c.(1279-1281)CGG>CAG	p.R427Q	NOP2_uc009zeq.1_Missense_Mutation_p.R143Q|NOP2_uc001qpi.1_Missense_Mutation_p.R427Q|NOP2_uc001qpj.1_Intron	NM_001033714	NP_001028886	P46087	NOP2_HUMAN	nucleolar protein 1, 120kDa	431					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						GACTCCCAGCCGATGCAAGTT	0.552												
CHD4	1108	broad.mit.edu	37	12	6715477	6715477	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:6715477A>G	uc001qpo.2	-	2	227	c.63T>C	c.(61-63)GAT>GAC	p.D21D	CHD4_uc001qpn.2_Silent_p.D21D|CHD4_uc001qpp.2_Silent_p.D21D	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	21					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						TCAAAAGTGCATCCATATCCT	0.662												
ZNF384	171017	broad.mit.edu	37	12	6777207	6777207	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:6777207T>C	uc010sfh.1	-	11	1615	c.1407A>G	c.(1405-1407)GCA>GCG	p.A469A	ZNF384_uc001qpz.2_Silent_p.A408A|ZNF384_uc001qqa.2_Silent_p.A408A|ZNF384_uc001qqb.2_Silent_p.A392A|ZNF384_uc001qqc.2_Silent_p.A408A|ZNF384_uc001qqd.2_Silent_p.A353A|ZNF384_uc001qqe.2_Silent_p.A392A	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	469	Ala-rich.|Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						ctgctgccgctgctgctgctg	0.189			T	EWSR1|TAF15 	ALL							
LEPREL2	10536	broad.mit.edu	37	12	6943194	6943194	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:6943194T>C	uc001qra.1	+	11	1473	c.1439T>C	c.(1438-1440)GTG>GCG	p.V480A	LEPREL2_uc001qqz.1_Missense_Mutation_p.V287A|LEPREL2_uc001qrb.1_Missense_Mutation_p.V287A	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN	leprecan-like 2 precursor	480					negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity				0					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GAGTGTGGGGTGCTGCTGCAG	0.597												
ATN1	1822	broad.mit.edu	37	12	7045763	7045763	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:7045763C>T	uc001qrw.1	+	5	1570	c.1333C>T	c.(1333-1335)CCT>TCT	p.P445S	ATN1_uc001qrx.1_Missense_Mutation_p.P445S|ATN1_uc001qry.1_Missense_Mutation_p.P444S	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	445	Poly-Pro.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						TCCCCCACCACCTCCTCCCTA	0.627												
EMG1	10436	broad.mit.edu	37	12	7084290	7084290	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:7084290G>T	uc001qsh.3	+	6	594	c.451G>T	c.(451-453)GGC>TGC	p.G151C	EMG1_uc009zfo.2_Intron|EMG1_uc010sfv.1_RNA	NM_006331	NP_006322	Q92979	NEP1_HUMAN	ribosome biogenesis protein NEP1	151					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding				0						AGCAGCTGATGGCCCCCAGAA	0.453												
PEX5	5830	broad.mit.edu	37	12	7343037	7343037	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:7343037G>A	uc009zfu.1	+	3	644	c.64G>A	c.(64-66)GGG>AGG	p.G22R	PEX5_uc001qsw.2_Missense_Mutation_p.G22R|PEX5_uc010sgc.1_Missense_Mutation_p.G22R|PEX5_uc001qsu.2_Missense_Mutation_p.G22R|PEX5_uc010sgd.1_Missense_Mutation_p.G43R|PEX5_uc001qsv.2_Missense_Mutation_p.G22R	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform d	22					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			ovary(1)	1						GAAGCTCGCCGGGCACTTCAC	0.662												
A2M	2	broad.mit.edu	37	12	9251272	9251272	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:9251272G>T	uc001qvk.1	-	15	1895	c.1782C>A	c.(1780-1782)GTC>GTA	p.V594V	A2M_uc009zgk.1_Silent_p.V444V	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	594					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GGAGGGCGCAGACGGACTGAG	0.577												
PRB2	653247	broad.mit.edu	37	12	11546360	11546360	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:11546360G>A	uc010shk.1	-	3	687	c.652C>T	c.(652-654)CCA>TCA	p.P218S		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGCTTTCCTGGAGGTGGGGGA	0.607												
GUCY2C	2984	broad.mit.edu	37	12	14849285	14849285	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:14849285C>A	uc001rcd.2	-	1	235	c.98G>T	c.(97-99)GGC>GTC	p.G33V	GUCY2C_uc009zhz.2_Missense_Mutation_p.G33V	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	33	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						TTCATAGCTGCCATTGTGGCA	0.522												
PLEKHA5	54477	broad.mit.edu	37	12	19498775	19498775	+	Splice_Site	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:19498775G>T	uc001reb.2	+	18	2440	c.2354_splice	c.e18-1	p.G785_splice	PLEKHA5_uc010sie.1_Splice_Site_p.G883_splice|PLEKHA5_uc001rea.2_Splice_Site_p.G843_splice|PLEKHA5_uc009zin.2_Splice_Site_p.G543_splice|PLEKHA5_uc010sif.1_Splice_Site_p.G711_splice|PLEKHA5_uc010sig.1_Splice_Site_p.G704_splice|PLEKHA5_uc010sih.1_Splice_Site_p.G677_splice|PLEKHA5_uc001rec.1_Splice_Site_p.G531_splice|PLEKHA5_uc009zio.2_Intron	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A								1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AATATTCCCAGGTATGATAGG	0.209												
LST-3TM12	338821	broad.mit.edu	37	12	21201650	21201650	+	Silent	SNP	C	C	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:21201650C>G	uc010sin.1	+	8	999	c.999C>G	c.(997-999)GTC>GTG	p.V333V	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.V380V	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	333						membrane	transporter activity				0						TTCTAGGAGTCCTCGCCCTAC	0.234												
LDHB	3945	broad.mit.edu	37	12	21790024	21790024	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:21790024G>A	uc001rfc.2	-	6	836	c.818C>T	c.(817-819)CCC>CTC	p.P273L	LDHB_uc001rfd.2_Missense_Mutation_p.P273L|LDHB_uc001rfe.2_Missense_Mutation_p.P273L	NM_002300	NP_002291	P07195	LDHB_HUMAN	L-lactate dehydrogenase B	273					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|ovary(1)	3					NADH(DB00157)	TGTTGACACGGGATGAATCCT	0.353												
SOX5	6660	broad.mit.edu	37	12	23728718	23728718	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:23728718T>C	uc001rfw.2	-	10	1321	c.1219A>G	c.(1219-1221)AAA>GAA	p.K407E	SOX5_uc001rfx.2_Missense_Mutation_p.K394E|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Missense_Mutation_p.K21E|SOX5_uc010siv.1_Missense_Mutation_p.K394E|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.K359E	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	407					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						GTGGGTGATTTGCCATCAGAG	0.512												
CASC1	55259	broad.mit.edu	37	12	25297532	25297532	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:25297532G>C	uc001rgl.2	-	8	833	c.751C>G	c.(751-753)CGA>GGA	p.R251G	CASC1_uc001rgk.2_Missense_Mutation_p.R257G|CASC1_uc001rgm.3_Missense_Mutation_p.R315G|CASC1_uc001rgj.2_Missense_Mutation_p.R211G|CASC1_uc010sje.1_Missense_Mutation_p.R192G|CASC1_uc010sjf.1_Missense_Mutation_p.R139G|CASC1_uc010sjg.1_Missense_Mutation_p.R251G	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform b	251										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TGCAGGAGTCGTACAGCAATG	0.383												
ERGIC2	51290	broad.mit.edu	37	12	29524548	29524548	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:29524548T>C	uc001riv.2	-	2	152	c.19A>G	c.(19-21)AAA>GAA	p.K7E	ERGIC2_uc001riw.2_RNA	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	PTX1 protein	7	Cytoplasmic (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	AAAGTTTTTTTCCGATTCAGT	0.378												
LRRK2	120892	broad.mit.edu	37	12	40714947	40714947	+	Silent	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:40714947C>A	uc001rmg.3	+	35	5248	c.5127C>A	c.(5125-5127)ATC>ATA	p.I1709I	LRRK2_uc009zjw.2_Silent_p.I547I|LRRK2_uc001rmi.2_Silent_p.I542I	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1709					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CAAGATTAATCAATCGATTAC	0.338												
LRRK2	120892	broad.mit.edu	37	12	40748201	40748201	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:40748201T>C	uc001rmg.3	+	45	6798	c.6677T>C	c.(6676-6678)GTC>GCC	p.V2226A	LRRK2_uc009zjw.2_Missense_Mutation_p.V1064A|LRRK2_uc001rmi.2_Missense_Mutation_p.V1059A	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2226					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACTCTCCTGGTCATCAATACC	0.418												
FAM113B	91523	broad.mit.edu	37	12	47630062	47630062	+	Missense_Mutation	SNP	C	C	T	rs112959993		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:47630062C>T	uc001rpn.2	+	4	1947	c.1216C>T	c.(1216-1218)CGT>TGT	p.R406C	FAM113B_uc001rpq.2_Missense_Mutation_p.R406C	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	406	Pro-rich.						hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					GTATCGTCCCCGTGGCCCCTA	0.592												
HDAC7	51564	broad.mit.edu	37	12	48185709	48185709	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:48185709C>T	uc010slo.1	-	14	1952	c.1757G>A	c.(1756-1758)CGC>CAC	p.R586H	HDAC7_uc009zku.2_RNA|HDAC7_uc001rqe.2_Missense_Mutation_p.R20H|HDAC7_uc001rqj.3_Missense_Mutation_p.R549H|HDAC7_uc001rqk.3_Missense_Mutation_p.R569H	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7 isoform a	547	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		GCTCTGGATGCGGCCGGCGTG	0.677												
H1FNT	341567	broad.mit.edu	37	12	48723395	48723395	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:48723395G>A	uc001rrm.2	+	1	633	c.321G>A	c.(319-321)ACG>ACA	p.T107T		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	107					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			pancreas(1)	1						CCAAGGCCACGCTCCTCCGGG	0.682												
ANP32D	23519	broad.mit.edu	37	12	48866561	48866561	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:48866561A>G	uc010slt.1	+	1	114	c.114A>G	c.(112-114)ACA>ACG	p.T38T		NM_012404	NP_036536	O95626	AN32D_HUMAN	acidic nuclear phosphoprotein 32D	38	LRR 1.			T -> A (in Ref. 1; AAD13667).						ovary(1)|central_nervous_system(1)	2						AAGGCCTCACAGATGAATTTG	0.393												
ADCY6	112	broad.mit.edu	37	12	49167856	49167856	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:49167856C>A	uc001rsh.3	-	14	2969	c.2309G>T	c.(2308-2310)CGG>CTG	p.R770L	ADCY6_uc001rsj.3_Missense_Mutation_p.R770L|ADCY6_uc001rsi.3_Intron|ADCY6_uc010slw.1_5'UTR	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	770	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 membrane	ATP binding|metal ion binding				0						TGCACAGCTCCGTATGGGGGT	0.547												
MLL2	8085	broad.mit.edu	37	12	49420206	49420206	+	Silent	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:49420206C>A	uc001rta.3	-	48	15543	c.15543G>T	c.(15541-15543)GGG>GGT	p.G5181G		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5181	FYR N-terminal.				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			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						ACACAAGGCCCCCCACACGGA	0.597			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
METTL7A	25840	broad.mit.edu	37	12	51319087	51319087	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:51319087C>T	uc001rxb.2	+	1	554	c.266C>T	c.(265-267)CCA>CTA	p.P89L	METTL7A_uc010smv.1_Missense_Mutation_p.P89L	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	89						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0						AAGTTCTACCCACCTGGGTGC	0.562												
NR4A1	3164	broad.mit.edu	37	12	52448961	52448961	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:52448961A>G	uc001rzs.2	+	3	1163	c.849A>G	c.(847-849)ACA>ACG	p.T283T	NR4A1_uc010sno.1_Silent_p.T296T|NR4A1_uc001rzr.2_Silent_p.T283T|NR4A1_uc009zmb.1_Silent_p.T283T|NR4A1_uc001rzt.2_Silent_p.T283T|NR4A1_uc009zmc.2_5'Flank	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	283	NR C4-type.|Nuclear receptor.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GTGTCCGCACATGTGAGGGCT	0.612												
NR4A1	3164	broad.mit.edu	37	12	52450285	52450285	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:52450285A>G	uc001rzs.2	+	5	1328	c.1014A>G	c.(1012-1014)CGA>CGG	p.R338R	NR4A1_uc010sno.1_Silent_p.R351R|NR4A1_uc001rzt.2_Silent_p.R338R|NR4A1_uc009zmc.2_5'UTR	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	338	Nuclear receptor.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CAGTTGTCCGAACAGACAGCC	0.632												
KRT3	3850	broad.mit.edu	37	12	53184633	53184633	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:53184633G>A	uc001say.2	-	8	1625	c.1559C>T	c.(1558-1560)GCT>GTT	p.A520V		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	520	Tail.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						GATGCTGACAGCACTCGGACA	0.428												
HOXC13	3229	broad.mit.edu	37	12	54333276	54333276	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:54333276G>A	uc001sei.2	+	1	701	c.586G>A	c.(586-588)GGG>AGG	p.G196R	HOXC13_uc010sop.1_RNA	NM_017410	NP_059106	P31276	HXC13_HUMAN	homeobox C13	196						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						GGTGGTGCCCGGGATCAGCGG	0.657			T	NUP98	AML							
NFE2	4778	broad.mit.edu	37	12	54686659	54686659	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:54686659G>T	uc009znk.2	-	2	1131	c.621C>A	c.(619-621)CCC>CCA	p.P207P	NFE2_uc001sfq.2_Silent_p.P207P|NFE2_uc001sfr.3_Silent_p.P207P|NFE2_uc009znl.2_Silent_p.P207P	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	207					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						GGCCTGAGGAGGGCTCTAAGG	0.602												
OR6C74	254783	broad.mit.edu	37	12	55641513	55641513	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:55641513A>G	uc010spg.1	+	1	442	c.442A>G	c.(442-444)ATG>GTG	p.M148V		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TGCTTCATGGATGGCTGGCTT	0.488												
DGKA	1606	broad.mit.edu	37	12	56333951	56333951	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:56333951T>C	uc001sij.2	+	10	1059	c.795T>C	c.(793-795)ATT>ATC	p.I265I	DGKA_uc009zoc.1_Silent_p.I265I|DGKA_uc001sih.1_Silent_p.I153I|DGKA_uc001sii.1_Silent_p.I123I|DGKA_uc009zod.1_Silent_p.I184I|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.2_Silent_p.I265I|DGKA_uc001sil.2_Silent_p.I265I|DGKA_uc001sim.2_Silent_p.I265I|DGKA_uc001sin.2_Silent_p.I265I|DGKA_uc009zof.2_Intron|DGKA_uc001sio.2_Missense_Mutation_p.L8S	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	265					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)	GGAAGGACATTGGTGTGAGTG	0.577											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TIMELESS	8914	broad.mit.edu	37	12	56816646	56816646	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:56816646C>A	uc001slf.2	-	19	2591	c.2423G>T	c.(2422-2424)GGC>GTC	p.G808V		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	808					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						ATCCAGGGAGCCATAGCCCTC	0.428												
LRP1	4035	broad.mit.edu	37	12	57571256	57571256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:57571256G>A	uc001snd.2	+	26	4709	c.4243G>A	c.(4243-4245)GCA>ACA	p.A1415T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1415	LDL-receptor class B 10.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCGCATTGAGGCAGCCTCCAT	0.677												
SHMT2	6472	broad.mit.edu	37	12	57627675	57627675	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:57627675G>A	uc001snf.1	+	10	1277	c.1267G>A	c.(1267-1269)GGC>AGC	p.G423S	SHMT2_uc001sng.1_Missense_Mutation_p.G319S|SHMT2_uc001snh.1_Missense_Mutation_p.G262S|SHMT2_uc009zpk.1_Missense_Mutation_p.G413S|SHMT2_uc001sni.1_Missense_Mutation_p.G402S|SHMT2_uc010srg.1_Missense_Mutation_p.G432S|SHMT2_uc001snj.1_Missense_Mutation_p.G327S|SHMT2_uc010srh.1_Missense_Mutation_p.G402S|SHMT2_uc001snk.1_Missense_Mutation_p.G327S|SHMT2_uc010sri.1_Missense_Mutation_p.G402S|SHMT2_uc001snl.2_Missense_Mutation_p.G327S|SHMT2_uc010srj.1_Missense_Mutation_p.G78S	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	423						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CACACCGGGCGGCCTGCGGCT	0.622												
PPFIA2	8499	broad.mit.edu	37	12	81732978	81732978	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:81732978T>C	uc001szo.1	-	21	2690	c.2529A>G	c.(2527-2529)AAA>AAG	p.K843K	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	769								p.K843E(1)		ovary(3)|lung(2)|pancreas(1)	6						CAAGTCGAGCTTTTTCTTTTT	0.408												
C12orf50	160419	broad.mit.edu	37	12	88380180	88380180	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:88380180C>T	uc001tam.1	-	10	999	c.831G>A	c.(829-831)CAG>CAA	p.Q277Q	C12orf50_uc001tan.2_Silent_p.Q292Q	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	277										skin(2)|ovary(1)	3						TCTTCACTGGCTGGACATCAT	0.338												
CCDC41	51134	broad.mit.edu	37	12	94761653	94761653	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:94761653T>A	uc001tdd.2	-	11	1846	c.1260A>T	c.(1258-1260)CAA>CAT	p.Q420H	CCDC41_uc001tde.2_Missense_Mutation_p.Q420H|CCDC41_uc009zsw.1_RNA	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	412	Potential.										0						CCTTTTCAGATTGCCTCCAGA	0.378												
ANKS1B	56899	broad.mit.edu	37	12	99640299	99640299	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:99640299G>T	uc001tge.1	-	13	2517	c.2100C>A	c.(2098-2100)GAC>GAA	p.D700E	ANKS1B_uc001tgf.1_Missense_Mutation_p.D280E|ANKS1B_uc001tgk.2_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.D666E	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	700						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TAACCCACTGGTCCCCATTCC	0.448												
SCYL2	55681	broad.mit.edu	37	12	100717349	100717349	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:100717349A>G	uc001thn.2	+	11	1492	c.1442A>G	c.(1441-1443)TAC>TGC	p.Y481C	SCYL2_uc009ztw.1_Missense_Mutation_p.Y308C|SCYL2_uc001thm.1_Missense_Mutation_p.Y481C	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	481					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6						CTTATAGACTACCCATCCATG	0.318												
UTP20	27340	broad.mit.edu	37	12	101773301	101773301	+	Missense_Mutation	SNP	G	G	T	rs140552393	by1000genomes	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:101773301G>T	uc001tia.1	+	57	7705	c.7549G>T	c.(7549-7551)GCA>TCA	p.A2517S		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2517					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						AGAACCTGTAGCAATCAAGTT	0.428												
TXNRD1	7296	broad.mit.edu	37	12	104715036	104715036	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:104715036T>C	uc010swk.1	+	10	1179	c.1157T>C	c.(1156-1158)ATT>ACT	p.I386T	TXNRD1_uc010swl.1_Missense_Mutation_p.I236T|TXNRD1_uc010swm.1_Missense_Mutation_p.I288T|TXNRD1_uc010swn.1_Missense_Mutation_p.I236T|TXNRD1_uc010swo.1_Missense_Mutation_p.I236T|TXNRD1_uc010swp.1_Missense_Mutation_p.I198T|TXNRD1_uc010swq.1_Missense_Mutation_p.I286T|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.I302T	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	386					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0						GCCAACAAAATTGGTGAACAC	0.408												
BTBD11	121551	broad.mit.edu	37	12	107713788	107713788	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:107713788C>T	uc001tmk.1	+	1	1592	c.1071C>T	c.(1069-1071)AAC>AAT	p.N357N	BTBD11_uc009zut.1_Silent_p.N357N|BTBD11_uc001tmj.2_Silent_p.N357N	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	357						integral to membrane	DNA binding			skin(2)|ovary(1)	3						CGGTCAACAACGACTCGGAGA	0.498												
ASCL4	121549	broad.mit.edu	37	12	108169151	108169151	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:108169151C>T	uc001tmr.2	+	1	990	c.159C>T	c.(157-159)AGC>AGT	p.S53S		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	52					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						GGGCGCGCAGCGGCTGCGCAC	0.761												
GIT2	9815	broad.mit.edu	37	12	110427530	110427530	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:110427530A>G	uc001tps.2	-	3	429	c.264T>C	c.(262-264)AGT>AGC	p.S88S	GIT2_uc001tpq.2_Silent_p.S88S|GIT2_uc001tpv.2_Silent_p.S88S|GIT2_uc001tpu.2_Silent_p.S88S|GIT2_uc001tpt.2_Silent_p.S88S|GIT2_uc010sxu.1_Silent_p.S26S|GIT2_uc001tpw.2_Silent_p.S88S|GIT2_uc010sxv.1_Silent_p.S88S	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	88	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1						TACGTCTTCCACTCATAATAG	0.398												
ACAD10	80724	broad.mit.edu	37	12	112193494	112193494	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:112193494T>C	uc001tsq.2	+	20	3184	c.2984T>C	c.(2983-2985)ATG>ACG	p.M995T	ACAD10_uc009zvx.2_Missense_Mutation_p.M1026T|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	995							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						GATATAGCCATGATTAAAATG	0.527												
NAA25	80018	broad.mit.edu	37	12	112525546	112525546	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:112525546A>G	uc001ttm.2	-	4	363	c.343T>C	c.(343-345)TAT>CAT	p.Y115H	NAA25_uc001ttn.3_Intron|NAA25_uc009zvz.1_Missense_Mutation_p.Y87H|NAA25_uc009zwa.1_Missense_Mutation_p.Y115H	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	115	TPR 4.					cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						TGAGAGTGATACTCCTCACTA	0.388												
C12orf51	283450	broad.mit.edu	37	12	112650388	112650388	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:112650388T>C	uc009zwc.2	-	42	6284	c.6266A>G	c.(6265-6267)AAG>AGG	p.K2089R	C12orf51_uc001ttr.1_Missense_Mutation_p.K264R	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CACCCGGCCCTTGGCTGGCTG	0.547												
SDS	10993	broad.mit.edu	37	12	113830824	113830824	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:113830824G>A	uc001tvg.2	-	8	1031	c.909C>T	c.(907-909)TGC>TGT	p.C303C		NM_006843	NP_006834	P20132	SDHL_HUMAN	serine dehydratase	303				C->A: Loss of enzyme activity.	gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			pancreas(1)	1					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGCTGCCCCCGCAGACGATGA	0.632												
SDS	10993	broad.mit.edu	37	12	113835115	113835115	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:113835115C>T	uc001tvg.2	-	6	630	c.508G>A	c.(508-510)GGG>AGG	p.G170R	SDS_uc001tvh.1_Missense_Mutation_p.G170R	NM_006843	NP_006834	P20132	SDHL_HUMAN	serine dehydratase	170					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			pancreas(1)	1					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGCAGGCCCCCGCCGCCCACT	0.662												
TBX5	6910	broad.mit.edu	37	12	114841672	114841672	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:114841672G>A	uc001tvo.2	-	2	527	c.32C>T	c.(31-33)GCG>GTG	p.A11V	TBX5_uc001tvp.2_Missense_Mutation_p.A11V|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Missense_Mutation_p.A11V	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	11				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AGGCGTGTGCGCCAGGCCAAA	0.692												
FBXO21	23014	broad.mit.edu	37	12	117595816	117595816	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:117595816G>A	uc001twk.2	-	10	1439	c.1400C>T	c.(1399-1401)GCG>GTG	p.A467V	FBXO21_uc001twj.2_Missense_Mutation_p.A460V|FBXO21_uc009zwq.2_Missense_Mutation_p.A400V|FBXO21_uc001twl.1_Missense_Mutation_p.A80V	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	467					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GTAGCCCACCGCCCCGTGCTG	0.532												
NOS1	4842	broad.mit.edu	37	12	117768159	117768159	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:117768159T>C	uc001twm.1	-	2	1402	c.716A>G	c.(715-717)CAG>CGG	p.Q239R		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	239	PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCTGTCCACCTGGATTCCCAT	0.413												
SRRM4	84530	broad.mit.edu	37	12	119540084	119540084	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:119540084C>A	uc001txa.1	+	2	467	c.175C>A	c.(175-177)CCC>ACC	p.P59T		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	59					cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						TCAGGATGGACCCTCAGAAAA	0.517												
KDM2B	84678	broad.mit.edu	37	12	121878620	121878620	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:121878620T>C	uc001uat.2	-	21	3713	c.3609A>G	c.(3607-3609)CCA>CCG	p.P1203P	KDM2B_uc001uaq.2_Silent_p.P643P|KDM2B_uc010szy.1_Silent_p.P643P|KDM2B_uc001uar.2_Silent_p.P794P|KDM2B_uc001uas.2_Silent_p.P1134P|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Silent_p.P451P|KDM2B_uc010szx.1_Silent_p.P451P|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	1203					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						GCAACTCACCTGGCCTGTTGT	0.612												
KDM2B	84678	broad.mit.edu	37	12	121881856	121881856	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:121881856G>A	uc001uat.2	-	16	2514	c.2410C>T	c.(2410-2412)CGG>TGG	p.R804W	KDM2B_uc001uaq.2_Missense_Mutation_p.R244W|KDM2B_uc010szy.1_Missense_Mutation_p.R244W|KDM2B_uc001uar.2_Missense_Mutation_p.R395W|KDM2B_uc001uas.2_Missense_Mutation_p.R773W|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.R52W|KDM2B_uc010szx.1_Missense_Mutation_p.R52W|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	804					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						TCGTATTTCCGCTTCTTCCTC	0.657											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RHOF	54509	broad.mit.edu	37	12	122217517	122217517	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:122217517C>T	uc001ubb.2	-	5	578	c.523G>A	c.(523-525)GCC>ACC	p.A175T	TMEM120B_uc001ubc.3_3'UTR|TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_RNA	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	ras homolog gene family, member F precursor	175					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			ovary(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CGAAACTTGGCGGAACATTCC	0.642												
VPS33A	65082	broad.mit.edu	37	12	122735574	122735574	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:122735574A>G	uc001ucd.2	-	5	669	c.556T>C	c.(556-558)TAT>CAT	p.Y186H	VPS33A_uc001ucc.2_Intron	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	186					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		ATCGTTCCATACAGAGCTTGC	0.567												
SBNO1	55206	broad.mit.edu	37	12	123793937	123793937	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:123793937T>C	uc010tap.1	-	27	3550	c.3550A>G	c.(3550-3552)AGG>GGG	p.R1184G	SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.R1183G|SBNO1_uc010taq.1_Missense_Mutation_p.R135G|SBNO1_uc001ues.1_Missense_Mutation_p.R135G	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1184							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GACATTCCCCTCTCTACACTA	0.393												
FZD10	11211	broad.mit.edu	37	12	130647985	130647985	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:130647985G>A	uc001uii.2	+	1	954	c.498G>A	c.(496-498)CCG>CCA	p.P166P	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	166	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GCCTGTTCCCGCCGCTGTTCC	0.612												
GPR133	283383	broad.mit.edu	37	12	131593316	131593316	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:131593316T>C	uc001uit.3	+	18	2494	c.1935T>C	c.(1933-1935)AGT>AGC	p.S645S	GPR133_uc010tbm.1_Silent_p.S677S|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Silent_p.S164S|GPR133_uc009zyp.2_RNA	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	645	Helical; Name=3; (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)		TCTTCCTGAGTGCCTTCGCAT	0.547												
SFRS8	6433	broad.mit.edu	37	12	132199458	132199458	+	Silent	SNP	G	G	A	rs146187057	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:132199458G>A	uc001uja.1	+	3	620	c.480G>A	c.(478-480)CCG>CCA	p.P160P	SFRS8_uc010tbn.1_Silent_p.P160P|SFRS8_uc001ujb.1_5'UTR|SFRS8_uc001uiz.1_Silent_p.P34P	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	160					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		ATTACGACCCGTCAGAGCCGA	0.547												
ULK1	8408	broad.mit.edu	37	12	132400493	132400493	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:132400493G>T	uc001uje.2	+	19	1935	c.1667G>T	c.(1666-1668)AGC>ATC	p.S556I		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	556					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CGCCTGCACAGCGCCCCCAAC	0.697												
EP400	57634	broad.mit.edu	37	12	132528817	132528817	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:132528817G>A	uc001ujn.2	+	34	6581	c.6546G>A	c.(6544-6546)GCG>GCA	p.A2182A	EP400_uc001ujl.2_Silent_p.A2181A|EP400_uc001ujm.2_Silent_p.A2101A	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2218					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGGAGGAGGCGGAGCTCCTGA	0.667												
EP400	57634	broad.mit.edu	37	12	132539741	132539741	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:132539741T>C	uc001ujn.2	+	44	7907	c.7872T>C	c.(7870-7872)CCT>CCC	p.P2624P	EP400_uc001ujl.2_Silent_p.P2623P|EP400_uc001ujm.2_Silent_p.P2543P	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2660	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGTGGCTCCTGGGGCCTTGA	0.527												
ZNF10	7556	broad.mit.edu	37	12	133733304	133733304	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:133733304G>A	uc009zzb.2	+	5	1919	c.1472G>A	c.(1471-1473)TGC>TAC	p.C491Y	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.C491Y	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	491	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCATATGAATGCTGTCAGTGT	0.418												
ZNF268	10795	broad.mit.edu	37	12	133768141	133768141	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:133768141G>A	uc010tcf.1	+	4	631	c.301G>A	c.(301-303)GCA>ACA	p.A101T	ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbw.1_Intron|ZNF268_uc010tbx.1_Intron|ZNF268_uc010tby.1_Intron|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tca.1_5'UTR|ZNF268_uc010tcb.1_Intron|ZNF268_uc010tcc.1_Intron|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tce.1_Intron|ZNF268_uc010tcg.1_5'UTR|ZNF268_uc010tch.1_Missense_Mutation_p.A101T	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	101	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GCTAGACCCAGCACAGAAGTG	0.488												
MPHOSPH8	54737	broad.mit.edu	37	13	20244467	20244467	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:20244467A>G	uc001umh.2	+	12	2430	c.2421A>G	c.(2419-2421)GTA>GTG	p.V807V	MPHOSPH8_uc001umg.2_Silent_p.V807V	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	807					cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TACAAGCTGTAGTTCTGAATG	0.383												
IL17D	53342	broad.mit.edu	37	13	21295832	21295832	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:21295832C>T	uc001unm.2	+	3	456	c.348C>T	c.(346-348)TGC>TGT	p.C116C		NM_138284	NP_612141	Q8TAD2	IL17D_HUMAN	interleukin 17D precursor	116					inflammatory response	extracellular space	cytokine activity				0		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		ACTGCCTGTGCCGGGGCTGCC	0.706												
LATS2	26524	broad.mit.edu	37	13	21563416	21563416	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:21563416G>A	uc009zzs.2	-	4	868	c.503C>T	c.(502-504)ACG>ATG	p.T168M	LATS2_uc001unr.3_Missense_Mutation_p.T168M	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	168					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGGCCTCCGCGTCACTGGGGT	0.617												
FGF9	2254	broad.mit.edu	37	13	22246259	22246259	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:22246259A>G	uc001uog.2	+	1	1045	c.208A>G	c.(208-210)ACT>GCT	p.T70A		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	70					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		ATACTGCAGGACTGGATTTCA	0.527												
SACS	26278	broad.mit.edu	37	13	23904309	23904309	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:23904309A>G	uc001uon.2	-	10	14295	c.13706T>C	c.(13705-13707)ATA>ACA	p.I4569T	SACS_uc001uoo.2_Missense_Mutation_p.I4422T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4569					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)		TTCAAGTTTTATTATGATACA	0.358												
FAM123A	219287	broad.mit.edu	37	13	25744572	25744572	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:25744572A>G	uc001uqb.2	-	1	1286	c.1186T>C	c.(1186-1188)TGT>CGT	p.C396R	FAM123A_uc001uqa.2_Missense_Mutation_p.C277R|FAM123A_uc001uqc.2_Missense_Mutation_p.C277R	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	396										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGCTTGTCACAGCTGGGACCT	0.547												
FAM123A	219287	broad.mit.edu	37	13	25745359	25745359	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:25745359G>A	uc001uqb.2	-	1	499	c.399C>T	c.(397-399)GGC>GGT	p.G133G	FAM123A_uc001uqa.2_Silent_p.G133G|FAM123A_uc001uqc.2_Silent_p.G133G	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	133	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		gccgccccccgccgcccccgc	0.582												
FAM123A	219287	broad.mit.edu	37	13	25745594	25745594	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:25745594G>T	uc001uqb.2	-	1	264	c.164C>A	c.(163-165)GCC>GAC	p.A55D	FAM123A_uc001uqa.2_Missense_Mutation_p.A55D|FAM123A_uc001uqc.2_Missense_Mutation_p.A55D	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	55	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CGGCTCGGCGGCCGGCGTTTC	0.607												
FAM123A	219287	broad.mit.edu	37	13	25745681	25745681	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:25745681C>T	uc001uqb.2	-	1	177	c.77G>A	c.(76-78)TGC>TAC	p.C26Y	FAM123A_uc001uqa.2_Missense_Mutation_p.C26Y|FAM123A_uc001uqc.2_Missense_Mutation_p.C26Y	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	26	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTTCCTCCTGCAGACCCCCAC	0.751												
SLC7A1	6541	broad.mit.edu	37	13	30104719	30104719	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:30104719C>T	uc001uso.2	-	5	1047	c.660G>A	c.(658-660)ACG>ACA	p.T220T		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	220	Extracellular (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AATCCTCCTCCGTGAGCTGCC	0.418												
DCLK1	9201	broad.mit.edu	37	13	36699971	36699971	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:36699971G>A	uc001uvf.2	-	2	537	c.304C>T	c.(304-306)CCC>TCC	p.P102S		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	102	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACTCCCTGGGGCAAATTCACG	0.527												
TRPC4	7223	broad.mit.edu	37	13	38357091	38357091	+	Splice_Site	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:38357091A>G	uc001uws.2	-	2	613	c.378_splice	c.e2+1	p.Q126_splice	TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Splice_Site_p.Q126_splice|TRPC4_uc010tey.1_Splice_Site_p.Q126_splice|TRPC4_uc010abw.2_Splice_Site_p.Q126_splice|TRPC4_uc010abx.2_Splice_Site_p.Q126_splice|TRPC4_uc010aby.2_Splice_Site_p.Q126_splice	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,						axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTTTGCAGGTACCTGTTTTTC	0.303												
ELF1	1997	broad.mit.edu	37	13	41556143	41556143	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:41556143A>G	uc001uxs.2	-	2	421	c.48T>C	c.(46-48)AGT>AGC	p.S16S	ELF1_uc010tfc.1_Silent_p.S16S|ELF1_uc010acd.2_5'UTR	NM_172373	NP_758961	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription	16					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CCATGACGTTACTAGCAAATT	0.333												
RCBTB2	1102	broad.mit.edu	37	13	49084763	49084763	+	Splice_Site	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:49084763A>G	uc001vch.2	-	10	1297	c.926_splice	c.e10+1	p.R309_splice	RCBTB2_uc010tgg.1_Splice_Site_p.R314_splice|RCBTB2_uc001vci.2_Splice_Site_p.R285_splice|RCBTB2_uc010tgh.1_Intron|RCBTB2_uc001vcj.2_Intron|RCBTB2_uc010acv.1_Splice_Site|RCBTB2_uc010tgi.1_Intron	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB								Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TGCCCGTGTTACCTGTCCTTT	0.463												
FAM124A	220108	broad.mit.edu	37	13	51826207	51826207	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:51826207A>G	uc001vfg.1	+	3	835	c.704A>G	c.(703-705)GAC>GGC	p.D235G	FAM124A_uc001vfe.2_Missense_Mutation_p.D235G|FAM124A_uc001vff.1_Missense_Mutation_p.D271G	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	235										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GTGCCCACCGACTCCTCCGTG	0.602												
PCDH20	64881	broad.mit.edu	37	13	61987108	61987108	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:61987108T>C	uc001vid.3	-	2	1488	c.1124A>G	c.(1123-1125)GAA>GGA	p.E375G	PCDH20_uc010thj.1_Missense_Mutation_p.E375G	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	348	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCCAGTGTTTTCATCCAGGTG	0.438												
LMO7	4008	broad.mit.edu	37	13	76378615	76378615	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:76378615T>C	uc001vjv.2	+	5	913	c.153T>C	c.(151-153)CAT>CAC	p.H51H	LMO7_uc010thv.1_Silent_p.H336H|LMO7_uc001vjt.1_Silent_p.H284H|LMO7_uc010thw.1_Silent_p.H245H|LMO7_uc001vjw.1_Silent_p.H51H|LMO7_uc001vju.1_RNA	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	336						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAGACAAACATGAGGATAACA	0.423												
EDNRB	1910	broad.mit.edu	37	13	78492668	78492668	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:78492668G>A	uc001vko.2	-	1	299	c.41C>T	c.(40-42)GCG>GTG	p.A14V	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.A14V|EDNRB_uc010aez.1_Missense_Mutation_p.A14V|EDNRB_uc001vkp.1_Missense_Mutation_p.A97V|EDNRB_uc010afa.1_Missense_Mutation_p.A14V	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	14					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AAGAACCAGCGCAACCAGGGC	0.637											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GPC6	10082	broad.mit.edu	37	13	94197638	94197638	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:94197638C>T	uc001vlt.2	+	2	915	c.283C>T	c.(283-285)CGC>TGC	p.R95C	GPC6_uc010tig.1_Missense_Mutation_p.R95C|GPC6_uc001vlu.1_Missense_Mutation_p.R25C	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	95						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CCATTTTGTGCGCACCACTTT	0.398												
TGDS	23483	broad.mit.edu	37	13	95235385	95235385	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:95235385A>G	uc001vlw.2	-	5	540	c.419T>C	c.(418-420)GTC>GCC	p.V140A	TGDS_uc001vlx.2_RNA	NM_014305	NP_055120	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	140					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ATCTGTGCTGACATAAATAAA	0.368												
HS6ST3	266722	broad.mit.edu	37	13	96743228	96743228	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:96743228G>A	uc001vmw.2	+	1	136	c.112G>A	c.(112-114)GGG>AGG	p.G38R		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	38	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CACCAACTTCGGGGAGCAgcc	0.318												
HS6ST3	266722	broad.mit.edu	37	13	97485036	97485036	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:97485036A>C	uc001vmw.2	+	2	1024	c.1000A>C	c.(1000-1002)AAC>CAC	p.N334H		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	334	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GAGTGAAAGAAACACCATCCT	0.493												
GPR18	2841	broad.mit.edu	37	13	99907196	99907196	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:99907196G>A	uc001voe.3	-	3	1432	c.931C>T	c.(931-933)CGC>TGC	p.R311C	UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Missense_Mutation_p.R311C	NM_005292	NP_005283	Q14330	GPR18_HUMAN	G protein-coupled receptor 18	311	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CTTTTTCTGCGCATGCTTCGA	0.378												
COL4A1	1282	broad.mit.edu	37	13	110804758	110804758	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:110804758G>A	uc001vqw.3	-	51	4973	c.4851C>T	c.(4849-4851)CAC>CAT	p.H1617H	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1617	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCCACGGCCGTGACACTCGA	0.572												
COL4A1	1282	broad.mit.edu	37	13	110833685	110833685	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:110833685G>A	uc001vqw.3	-	29	2269	c.2147C>T	c.(2146-2148)CCG>CTG	p.P716L	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	716	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ATTAAATCCCGGGCGACCTGG	0.498												
COL4A1	1282	broad.mit.edu	37	13	110857865	110857865	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:110857865A>G	uc001vqw.3	-	16	1001	c.879T>C	c.(877-879)GGT>GGC	p.G293G	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	293	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCCTTTGTCACCATCTTTTC	0.363												
MCF2L	23263	broad.mit.edu	37	13	113736828	113736828	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:113736828A>G	uc001vsu.2	+	17	2156	c.2134A>G	c.(2134-2136)ATG>GTG	p.M712V	MCF2L_uc001vsq.2_Missense_Mutation_p.M712V|MCF2L_uc010tjr.1_Missense_Mutation_p.M655V|MCF2L_uc001vsr.2_Missense_Mutation_p.M659V|MCF2L_uc001vss.3_Missense_Mutation_p.M653V|MCF2L_uc010tjs.1_Missense_Mutation_p.M653V|MCF2L_uc001vst.1_Missense_Mutation_p.M617V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	685	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GTTTGGAAACATGGAGGAAAT	0.562												
TFDP1	7027	broad.mit.edu	37	13	114292142	114292142	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:114292142A>G	uc001vtw.2	+	11	1228	c.1016A>G	c.(1015-1017)CAG>CGG	p.Q339R	TFDP1_uc010tkd.1_Missense_Mutation_p.Q244R|TFDP1_uc010tke.1_Missense_Mutation_p.Q310R|TFDP1_uc001vty.3_Missense_Mutation_p.Q339R|TFDP1_uc001vtx.2_Intron	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	339					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GAAATGGCTCAGGGAACTGTT	0.512										TSP Lung(29;0.18)		
CDC16	8881	broad.mit.edu	37	13	115012445	115012445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:115012445G>A	uc001vuk.1	+	11	1135	c.937G>A	c.(937-939)GGT>AGT	p.G313S	CDC16_uc001vul.1_Missense_Mutation_p.G313S|CDC16_uc001vum.1_Missense_Mutation_p.G219S|CDC16_uc001vun.1_Missense_Mutation_p.G312S|CDC16_uc001vuo.1_Missense_Mutation_p.G312S	NM_003903	NP_003894	Q13042	CDC16_HUMAN	anaphase-promoting complex, subunit 6	313	TPR 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TCTCATGGTCGGTCATAAAAA	0.333												
POTEG	404785	broad.mit.edu	37	14	19553817	19553817	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:19553817A>G	uc001vuz.1	+	1	453	c.401A>G	c.(400-402)CAC>CGC	p.H134R	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	134										ovary(1)	1						CCGAGGTACCACGTCCGTCGA	0.587												
OR4N5	390437	broad.mit.edu	37	14	20612024	20612024	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:20612024C>T	uc010tla.1	+	1	130	c.130C>T	c.(130-132)CTC>TTC	p.L44F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGAAATTTCCTCATCATTTT	0.443												
NDRG2	57447	broad.mit.edu	37	14	21488109	21488109	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:21488109C>T	uc001vyy.2	-	10	732	c.582G>A	c.(580-582)CCG>CCA	p.P194P	NDRG2_uc010tll.1_Silent_p.P190P|NDRG2_uc001vyt.2_Silent_p.P107P|NDRG2_uc001vyu.2_Silent_p.P151P|NDRG2_uc001vyv.2_Silent_p.P180P|NDRG2_uc001vyw.2_Silent_p.P180P|NDRG2_uc001vzb.2_Silent_p.P134P|NDRG2_uc001vyx.2_Silent_p.P194P|NDRG2_uc001vza.2_Silent_p.P180P|NDRG2_uc001vyz.2_Silent_p.P180P|NDRG2_uc001vzc.2_Silent_p.P180P|NDRG2_uc001vze.2_Silent_p.P194P|NDRG2_uc001vzd.2_Silent_p.P194P|NDRG2_uc001vzg.2_Silent_p.P180P|NDRG2_uc001vzf.2_Silent_p.P180P|NDRG2_uc010aig.2_Silent_p.P194P	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	N-myc downstream-regulated gene 2 isoform a	194					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				ovary(1)|breast(1)	2	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGATCATCTCCGGAATGGAAG	0.408												
TOX4	9878	broad.mit.edu	37	14	21957487	21957487	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:21957487T>C	uc001waz.2	+	5	838	c.735T>C	c.(733-735)AAT>AAC	p.N245N	TOX4_uc001way.2_Silent_p.N115N|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.N222N|TOX4_uc010tlv.1_Silent_p.N115N	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	245	HMG box.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGGGACAGAATCCTAATGCCA	0.408												
TOX4	9878	broad.mit.edu	37	14	21957499	21957499	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:21957499T>C	uc001waz.2	+	5	850	c.747T>C	c.(745-747)ACT>ACC	p.T249T	TOX4_uc001way.2_Silent_p.T119T|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.T226T|TOX4_uc010tlv.1_Silent_p.T119T	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	249	HMG box.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CTAATGCCACTTTTGGTGAGG	0.413												
DCAF11	80344	broad.mit.edu	37	14	24586179	24586179	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:24586179A>G	uc001wlv.2	+	3	489	c.209A>G	c.(208-210)CAG>CGG	p.Q70R	NRL_uc001wlq.2_5'Flank|DCAF11_uc001wlw.2_Missense_Mutation_p.Q70R|DCAF11_uc001wlz.2_5'UTR|DCAF11_uc001wly.2_Missense_Mutation_p.Q26R|DCAF11_uc001wme.2_Splice_Site_p.R52_splice|DCAF11_uc010tny.1_Splice_Site|DCAF11_uc001wmd.2_Missense_Mutation_p.Q70R|DCAF11_uc001wmc.2_5'UTR|DCAF11_uc001wmb.3_Splice_Site_p.A45_splice|DCAF11_uc001wma.3_Missense_Mutation_p.Q70R	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	70						CUL4 RING ubiquitin ligase complex	protein binding				0						CAATTCATTCAGGCCCTCTTG	0.517												
IRF9	10379	broad.mit.edu	37	14	24631403	24631403	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:24631403T>C	uc001wmq.2	+	2	177	c.50T>C	c.(49-51)GTG>GCG	p.V17A	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_5'Flank	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	17	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)		AACTGGGTGGTGGAGCAAGTG	0.562												
REC8	9985	broad.mit.edu	37	14	24648032	24648032	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:24648032G>A	uc001wmr.2	+	16	1540	c.1113G>A	c.(1111-1113)CAG>CAA	p.Q371Q	REC8_uc001wms.2_Silent_p.Q371Q	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	371	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		ATTGTGCCCAGCCACCCCCAA	0.587												
C14orf21	161424	broad.mit.edu	37	14	24771314	24771314	+	Splice_Site	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:24771314T>C	uc001wol.1	+	4	1013	c.950_splice	c.e4+2	p.S317_splice	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.1_5'Flank|DHRS1_uc001wok.2_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	hypothetical protein LOC161424								RNA binding			breast(2)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(265;0.0185)		AGATGGCAGGTATGGTCAGGG	0.488												
CBLN3	643866	broad.mit.edu	37	14	24897157	24897157	+	Silent	SNP	T	T	C	rs144101051		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:24897157T>C	uc001wpg.3	-	3	927	c.456A>G	c.(454-456)TCA>TCG	p.S152S	KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	152	Necessary for interaction with CBLN3, and homotrimerization (By similarity).|C1q.					cell junction|extracellular region|synapse				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(265;0.00159)		TGGCAAAGGCTGAGATGACAG	0.642												
KHNYN	23351	broad.mit.edu	37	14	24905387	24905387	+	Splice_Site	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:24905387T>C	uc001wph.3	+	6	1887	c.1685_splice	c.e6+2	p.R562_splice	KHNYN_uc010tpc.1_Splice_Site_p.R603_splice|KHNYN_uc010alw.2_Splice_Site_p.R562_splice	NM_015299	NP_056114	O15037	KHNYN_HUMAN	hypothetical protein LOC23351											ovary(2)|liver(1)	3						CAGAGAACGGTGAGGGAGCCC	0.542											OREG0022628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SEC23A	10484	broad.mit.edu	37	14	39556131	39556131	+	Splice_Site	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:39556131A>G	uc001wup.1	-	6	906	c.683_splice	c.e6+1	p.R228_splice	SEC23A_uc010tqa.1_Splice_Site_p.R90_splice|SEC23A_uc010tqb.1_Splice_Site_p.R199_splice|SEC23A_uc010tqc.1_Splice_Site_p.R90_splice	NM_006364	NP_006355	Q15436	SC23A_HUMAN	SEC23-related protein A						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CATATTTATTACCTGTTGGAA	0.383												
LRFN5	145581	broad.mit.edu	37	14	42356881	42356881	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:42356881T>A	uc001wvm.2	+	3	2251	c.1053T>A	c.(1051-1053)GAT>GAA	p.D351E	LRFN5_uc010ana.2_Missense_Mutation_p.D351E	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	351	Extracellular (Potential).|Ig-like.					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)		CTGTAAAGGATACAGGTGCTT	0.388										HNSCC(30;0.082)		
C14orf106	55320	broad.mit.edu	37	14	45697006	45697006	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:45697006T>C	uc001wwf.2	-	9	2065	c.1606A>G	c.(1606-1608)AAT>GAT	p.N536D	C14orf106_uc010anh.2_RNA	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	536					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						CTGTGCTTATTACTCTTCAGT	0.323												
SDCCAG1	9147	broad.mit.edu	37	14	50269385	50269385	+	Splice_Site	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:50269385A>G	uc001wxc.2	-	21	2042	c.1974_splice	c.e21+1	p.K658_splice	SDCCAG1_uc010anj.1_Splice_Site_p.K658_splice|SDCCAG1_uc001wxa.2_5'Flank|SDCCAG1_uc010tqi.1_Splice_Site_p.K637_splice|SDCCAG1_uc001wxe.2_Splice_Site_p.K616_splice|SDCCAG1_uc001wxd.1_Splice_Site_p.K63_splice	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1							cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)		GTTGAAGAGTACCTTAAAAAG	0.323												
PTGDR	5729	broad.mit.edu	37	14	52735271	52735271	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:52735271C>T	uc001wzq.2	+	1	841	c.739C>T	c.(739-741)CGC>TGC	p.R247C		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	247	Cytoplasmic (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGCCGAGCCGCGCGCGGACGG	0.682												
MUDENG	55745	broad.mit.edu	37	14	57741070	57741070	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:57741070A>G	uc001xcv.2	+	2	610	c.183A>G	c.(181-183)TTA>TTG	p.L61L	MUDENG_uc001xcu.3_Silent_p.L61L|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_5'UTR	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	61					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1						AACTTAGATTATTGGATGATG	0.418												
DAAM1	23002	broad.mit.edu	37	14	59798558	59798558	+	Missense_Mutation	SNP	G	G	A	rs139553997		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:59798558G>A	uc001xdz.1	+	15	2013	c.1888G>A	c.(1888-1890)GAA>AAA	p.E630K	DAAM1_uc001xea.1_Missense_Mutation_p.E630K	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	630	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGTATGGACCGAAATTGATGA	0.353												
C14orf135	64430	broad.mit.edu	37	14	60581848	60581848	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:60581848T>C	uc001xer.3	+	3	846	c.324T>C	c.(322-324)GAT>GAC	p.D108D	C14orf135_uc001xeq.2_Silent_p.D108D	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	342						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		AATCTAAGGATTTACCCAGTG	0.383												
SLC38A6	145389	broad.mit.edu	37	14	61518547	61518547	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:61518547T>C	uc001xfg.1	+	14	1209	c.1093T>C	c.(1093-1095)TTC>CTC	p.F365L	SLC38A6_uc001xfh.1_Missense_Mutation_p.F365L|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.F342L	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	365					amino acid transport|sodium ion transport	integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		CAATTTTCCATTCTCATGGAT	0.328												
RHOJ	57381	broad.mit.edu	37	14	63757612	63757612	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:63757612A>G	uc001xgb.1	+	5	958	c.515A>G	c.(514-516)TAC>TGC	p.Y172C		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	ras homolog gene family, member J precursor	172					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GCACAGTGCTACTTGGAATGT	0.428												
SYNE2	23224	broad.mit.edu	37	14	64491108	64491108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:64491108T>A	uc001xgm.2	+	39	6001	c.5771T>A	c.(5770-5772)TTA>TAA	p.L1924*	SYNE2_uc001xgl.2_Nonsense_Mutation_p.L1924*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1924	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAATTCGAATTAGAAAAAATG	0.443												
SPTB	6710	broad.mit.edu	37	14	65260496	65260496	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:65260496G>A	uc001xht.2	-	13	1939	c.1885C>T	c.(1885-1887)CGG>TGG	p.R629W	SPTB_uc001xhr.2_Missense_Mutation_p.R629W|SPTB_uc001xhs.2_Missense_Mutation_p.R629W|SPTB_uc001xhu.2_Missense_Mutation_p.R629W	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	629	Spectrin 4.			RKA -> ART (in Ref. 1; AAA60578/ AAA60579).	actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGGCCTTCCGCCCAGCTGCC	0.552												
SPTB	6710	broad.mit.edu	37	14	65262178	65262178	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:65262178C>T	uc001xht.2	-	11	1575	c.1521G>A	c.(1519-1521)CTG>CTA	p.L507L	SPTB_uc001xhr.2_Silent_p.L507L|SPTB_uc001xhs.2_Silent_p.L507L|SPTB_uc001xhu.2_Silent_p.L507L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	507	Spectrin 3.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCCATAGGCGCAGTATATTGT	0.612												
SIPA1L1	26037	broad.mit.edu	37	14	72128176	72128176	+	Silent	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:72128176C>A	uc001xms.2	+	7	2595	c.2247C>A	c.(2245-2247)GTC>GTA	p.V749V	SIPA1L1_uc001xmt.2_Silent_p.V749V|SIPA1L1_uc001xmu.2_Silent_p.V749V|SIPA1L1_uc001xmv.2_Silent_p.V749V|SIPA1L1_uc010ttm.1_Silent_p.V224V	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	749	Rap-GAP.				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)		CTGACAGTGTCTGTTATAGGT	0.522												
C14orf43	91748	broad.mit.edu	37	14	74206625	74206625	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:74206625G>T	uc001xot.2	-	2	870	c.87C>A	c.(85-87)CCC>CCA	p.P29P	C14orf43_uc001xou.2_Silent_p.P29P|C14orf43_uc010tud.1_Silent_p.P29P|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GCAGGGGAGGGGGCTGCTCCT	0.652												
RPS6KL1	83694	broad.mit.edu	37	14	75388063	75388063	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:75388063A>G	uc010tux.1	-	2	710	c.182T>C	c.(181-183)CTG>CCG	p.L61P	RPS6KL1_uc001xqw.2_Missense_Mutation_p.L61P|RPS6KL1_uc010asd.1_RNA|RPS6KL1_uc001xqy.1_Missense_Mutation_p.L61P	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	61						ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		ATCGCGCTCCAGGGCCAGCCG	0.602												
TTLL5	23093	broad.mit.edu	37	14	76238159	76238159	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:76238159T>C	uc001xrx.2	+	21	2303	c.2098T>C	c.(2098-2100)TTC>CTC	p.F700L	TTLL5_uc010ask.1_Missense_Mutation_p.F714L|TTLL5_uc001xrz.2_Missense_Mutation_p.F275L|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	700					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		CGGTCAGACGTTCAGTGCCAG	0.363												
KIAA1737	85457	broad.mit.edu	37	14	77572054	77572054	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:77572054G>A	uc001xtd.2	+	2	182	c.3G>A	c.(1-3)ATG>ATA	p.M1I	KIAA1737_uc001xtc.1_5'UTR	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	KIAA1737 protein	1											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AATAAACCATGGAGAGGAAAA	0.468												
C14orf174	161394	broad.mit.edu	37	14	77844056	77844056	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:77844056A>G	uc001xtq.1	+	1	295	c.295A>G	c.(295-297)ACT>GCT	p.T99A	TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	99											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		ACCAAGCGAAACTGAACCAGG	0.507												
C14orf174	161394	broad.mit.edu	37	14	77844361	77844361	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:77844361A>G	uc001xtq.1	+	1	600	c.600A>G	c.(598-600)CAA>CAG	p.Q200Q	TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	200											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		TTAGAGTGCAACATGAAGAGA	0.473												
NRXN3	9369	broad.mit.edu	37	14	79434538	79434538	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:79434538G>A	uc001xun.2	+	11	2363	c.1872G>A	c.(1870-1872)CTG>CTA	p.L624L	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.L749L	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	997	Extracellular (Potential).|Laminin G-like 5.				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)		TGGCTGGTCTGGCCCAAGGCA	0.488												
KCNK10	54207	broad.mit.edu	37	14	88652430	88652430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:88652430G>A	uc001xwo.2	-	7	1523	c.1066C>T	c.(1066-1068)CGA>TGA	p.R356*	KCNK10_uc001xwm.2_Nonsense_Mutation_p.R361*|KCNK10_uc001xwn.2_Nonsense_Mutation_p.R361*	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	356	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						CTGAGCCTTCGCCGTGTCTCC	0.637												
TDP1	55775	broad.mit.edu	37	14	90450954	90450954	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:90450954T>C	uc001xxy.2	+	9	1278	c.979T>C	c.(979-981)TTG>CTG	p.L327L	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Silent_p.L327L|TDP1_uc010atn.2_Silent_p.L327L|TDP1_uc001xya.2_Silent_p.L88L|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Silent_p.L327L|TDP1_uc001xyd.1_5'Flank	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	327					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CATCAGTTACTTGATGGCTTA	0.428								Repair_of_DNA-protein_crosslinks				
CATSPERB	79820	broad.mit.edu	37	14	92126195	92126195	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:92126195T>C	uc001xzs.1	-	15	1558	c.1418A>G	c.(1417-1419)TAC>TGC	p.Y473C	CATSPERB_uc010aub.1_Intron	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	473					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTTTGTCGAGTAAACCTTTCC	0.328												
KIAA1409	57578	broad.mit.edu	37	14	94063774	94063774	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:94063774A>G	uc001ybv.1	+	21	2812	c.2729A>G	c.(2728-2730)TAC>TGC	p.Y910C	KIAA1409_uc001ybs.1_Missense_Mutation_p.Y910C	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1087						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)		CTGCTGAAGTACTCCCTGGCA	0.468												
ATG2B	55102	broad.mit.edu	37	14	96794867	96794867	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:96794867A>G	uc001yfi.2	-	14	2345	c.1980T>C	c.(1978-1980)AAT>AAC	p.N660N		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	660										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GTCTTGCTTGATTACCCTTTT	0.289												
DEGS2	123099	broad.mit.edu	37	14	100615982	100615982	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:100615982G>A	uc001ygx.2	-	2	236	c.148C>T	c.(148-150)CTG>TTG	p.L50L		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	degenerative spermatocyte homolog 2, lipid	50	Helical; (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity				0		Melanoma(154;0.212)				ACCAGCACCAGCACCAGCACC	0.677												
SLC25A29	123096	broad.mit.edu	37	14	100759713	100759713	+	Missense_Mutation	SNP	A	A	G	rs149547960		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:100759713A>G	uc001yha.2	-	3	371	c.80T>C	c.(79-81)GTA>GCA	p.V27A	SLC25A29_uc010avv.2_5'UTR|SLC25A29_uc010twx.1_Missense_Mutation_p.Y5H	NM_001039355	NP_001034444	Q8N8R3	MCATL_HUMAN	solute carrier family 25, member 29	27	Solcar 1.					integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1		Melanoma(154;0.152)			L-Carnitine(DB00583)	CTGAAGCCGTACCTGGAAGGA	0.627												
DLK1	8788	broad.mit.edu	37	14	101193431	101193431	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:101193431G>A	uc001yhs.3	+	1	179	c.26G>A	c.(25-27)CGC>CAC	p.R9H	DLK1_uc001yhu.3_Missense_Mutation_p.R9H	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	9					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)|breast(1)|skin(1)	4		Melanoma(154;0.155)				GCCCTCCTGCGCGTCCTCTTG	0.711												
DIO3	1735	broad.mit.edu	37	14	102027850	102027850	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:102027850C>T	uc010txq.1	+	1	163	c.-61C>T	c.(-63--59)CACGT>CATGT		DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III						cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(303;0.185)				CGCCAGGCCACGTCGCGGTTG	0.677												
DIO3	1735	broad.mit.edu	37	14	102027918	102027918	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:102027918C>T	uc010txq.1	+	1	231	c.7C>T	c.(7-9)CGC>TGC	p.R3C	DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	3	Cytoplasmic (Potential).			R -> H (in Ref. 1; AAB35616).	cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(303;0.185)				CACCATGCTCCGCTCCCTGCT	0.687												
DYNC1H1	1778	broad.mit.edu	37	14	102515817	102515817	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:102515817C>T	uc001yks.2	+	75	13577	c.13413C>T	c.(13411-13413)GCC>GCT	p.A4471A		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	4471					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CGGTGCCTGCCGGCATGACCG	0.602												
KLC1	3831	broad.mit.edu	37	14	104139404	104139404	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:104139404A>G	uc001yno.2	+	8	1349	c.1041A>G	c.(1039-1041)TTA>TTG	p.L347L	KLC1_uc010tyd.1_Silent_p.L506L|KLC1_uc010tye.1_Silent_p.L343L|KLC1_uc001ynm.1_Silent_p.L347L|KLC1_uc001ynn.1_Silent_p.L341L|KLC1_uc010tyf.1_Silent_p.L347L|KLC1_uc001ynp.1_5'Flank|KLC1_uc001ynr.1_5'Flank|KLC1_uc010awu.1_5'Flank|KLC1_uc001ynq.1_5'Flank|KLC1_uc001yns.2_5'Flank	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	347	TPR 4.				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				ACTTGGCCTTACTGTGCCAGA	0.438												
AHNAK2	113146	broad.mit.edu	37	14	105407107	105407107	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:105407107G>T	uc010axc.1	-	7	14801	c.14681C>A	c.(14680-14682)TCT>TAT	p.S4894Y	AHNAK2_uc001ypx.2_Missense_Mutation_p.S4794Y	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4894						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTAAGAGGAGACATGACTGG	0.542												
AHNAK2	113146	broad.mit.edu	37	14	105410777	105410777	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:105410777C>T	uc010axc.1	-	7	11131	c.11011G>A	c.(11011-11013)GAT>AAT	p.D3671N	AHNAK2_uc001ypx.2_Missense_Mutation_p.D3571N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3671						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGACTCACATCGGCTTCCACC	0.582												
AHNAK2	113146	broad.mit.edu	37	14	105415855	105415855	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:105415855T>C	uc010axc.1	-	7	6053	c.5933A>G	c.(5932-5934)GAC>GGC	p.D1978G	AHNAK2_uc001ypx.2_Missense_Mutation_p.D1878G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1978						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATGTCCTTGTCGGCCAGGGA	0.607												
MAGEL2	54551	broad.mit.edu	37	15	23891069	23891069	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:23891069C>A	uc001ywj.3	-	1	107	c.12G>T	c.(10-12)CAG>CAT	p.Q4H		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)		GCTGCACCTCCTGGAATTCCA	0.622												
C15orf2	23742	broad.mit.edu	37	15	24923624	24923624	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:24923624A>G	uc001ywo.2	+	1	3084	c.2610A>G	c.(2608-2610)CAA>CAG	p.Q870Q		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	870					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTCAGCCCAAGTCTCCACCA	0.498												
GABRB3	2562	broad.mit.edu	37	15	26806130	26806130	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:26806130T>C	uc001zaz.2	-	8	1171	c.1029A>G	c.(1027-1029)GCA>GCG	p.A343A	GABRB3_uc010uae.1_Silent_p.A258A|GABRB3_uc001zba.2_Silent_p.A343A|GABRB3_uc001zbb.2_Silent_p.A399A	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	343	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTGTCTTTTCTGCAAGCTTCT	0.522												
HERC2	8924	broad.mit.edu	37	15	28408274	28408274	+	Missense_Mutation	SNP	G	G	A	rs151205330	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:28408274G>A	uc001zbj.2	-	69	10818	c.10712C>T	c.(10711-10713)GCG>GTG	p.A3571V		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3571					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)		GGAAAGCACCGCGGAGAGCAC	0.647												
HERC2	8924	broad.mit.edu	37	15	28460840	28460840	+	Missense_Mutation	SNP	G	G	A	rs141981089		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:28460840G>A	uc001zbj.2	-	39	6243	c.6137C>T	c.(6136-6138)CCG>CTG	p.P2046L		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2046					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)		GATCCACTGCGGGGAGCTGAG	0.627												
APBA2	321	broad.mit.edu	37	15	29368282	29368282	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:29368282A>G	uc001zck.2	+	5	1264	c.1057A>G	c.(1057-1059)AGT>GGT	p.S353G	APBA2_uc010azj.2_Missense_Mutation_p.S353G|APBA2_uc010uat.1_Missense_Mutation_p.S353G|APBA2_uc001zcl.2_Missense_Mutation_p.S353G|APBA2_uc001zcm.1_Missense_Mutation_p.S57G	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	353					nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ATCATTTCCAAGTTTTGTGGC	0.378												
APBA2	321	broad.mit.edu	37	15	29385292	29385292	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:29385292G>A	uc001zck.2	+	6	1291	c.1084G>A	c.(1084-1086)GAA>AAA	p.E362K	APBA2_uc010azj.2_Missense_Mutation_p.E362K|APBA2_uc010uat.1_Missense_Mutation_p.E362K|APBA2_uc001zcl.2_Missense_Mutation_p.E362K|APBA2_uc001zcm.1_Missense_Mutation_p.E66K	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	362					nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGGCCCTGCGAACCAGAAGA	0.522												
ARHGAP11B	89839	broad.mit.edu	37	15	30919028	30919028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:30919028G>A	uc001zet.1	+	1	150	c.5G>A	c.(4-6)TGG>TAG	p.W2*	ARHGAP11B_uc010azv.1_Intron|ARHGAP11B_uc001zeu.2_RNA	NM_001039841	NP_001034930	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	2					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TCCGGAATGTGGGATCAGAGG	0.537												
ZNF770	54989	broad.mit.edu	37	15	35274313	35274313	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:35274313T>C	uc001ziw.2	-	3	1634	c.1323A>G	c.(1321-1323)TCA>TCG	p.S441S		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	441					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)		AACCACAGATTGACAAGTCTT	0.343												
CHAC1	79094	broad.mit.edu	37	15	41245679	41245679	+	Silent	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:41245679A>T	uc001znh.2	+	1	44	c.24A>T	c.(22-24)CTA>CTT	p.L8L	CHAC1_uc010uct.1_Silent_p.L8L	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator-like 1 isoform	8					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding				0		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AGCTGGAGCTACCGAGCGGTG	0.706												
RTF1	23168	broad.mit.edu	37	15	41762573	41762573	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:41762573G>A	uc001zny.2	+	7	1020	c.1008G>A	c.(1006-1008)TCG>TCA	p.S336S		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	336	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GAACATCATCGTCTGATGAAG	0.438												
TUBGCP4	27229	broad.mit.edu	37	15	43678008	43678008	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:43678008A>G	uc001zro.2	+	8	983	c.743A>G	c.(742-744)AAC>AGC	p.N248S	TUBGCP4_uc001zrn.2_Missense_Mutation_p.N248S|TUBGCP4_uc010bdh.2_RNA	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	248					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			ovary(3)	3		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GAGGAAGAGAACATGCTGGCA	0.433												
MAP1A	4130	broad.mit.edu	37	15	43821953	43821953	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:43821953G>A	uc001zrt.2	+	5	8608	c.8141G>A	c.(8140-8142)CGA>CAA	p.R2714Q		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2714						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TTCTTCCGTCGAGTGCGTGCA	0.582												
PDIA3	2923	broad.mit.edu	37	15	44048950	44048950	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:44048950G>T	uc001zsu.2	+	3	498	c.350G>T	c.(349-351)GGA>GTA	p.G117V	PDIA3_uc010bdp.2_Missense_Mutation_p.G97V|PDIA3_uc010ued.1_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	protein disulfide-isomerase A3 precursor	117	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)|skin(1)	2		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GCTTATGATGGACCTAGGACT	0.383												
ELL3	80237	broad.mit.edu	37	15	44066518	44066518	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:44066518T>C	uc001zsw.1	-	9	1303	c.900A>G	c.(898-900)CAA>CAG	p.Q300Q	ELL3_uc001zsv.1_Silent_p.Q254Q|ELL3_uc001zsx.1_Silent_p.Q185Q|uc001zsy.2_5'Flank	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	300					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				ovary(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CATAGGCATGTTGCTGTTCTG	0.527												
MYEF2	50804	broad.mit.edu	37	15	48441449	48441449	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:48441449C>T	uc001zwi.3	-	15	1622	c.1498G>A	c.(1498-1500)GAT>AAT	p.D500N	MYEF2_uc001zwg.3_Missense_Mutation_p.D38N|MYEF2_uc001zwh.3_Missense_Mutation_p.D88N|MYEF2_uc001zwj.3_Missense_Mutation_p.D476N	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	500	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CGATCCATATCGATGCTCCTT	0.463												
SLC12A1	6557	broad.mit.edu	37	15	48533725	48533725	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:48533725C>A	uc001zwn.3	+	10	1445	c.1229C>A	c.(1228-1230)GCC>GAC	p.A410D	SLC12A1_uc010uew.1_Missense_Mutation_p.A216D|SLC12A1_uc010bem.2_Missense_Mutation_p.A410D|SLC12A1_uc001zwq.3_Missense_Mutation_p.A181D|SLC12A1_uc001zwr.3_Missense_Mutation_p.A137D	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	410	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCCCAAGATGCCATCCCCAGA	0.408												
TRPM7	54822	broad.mit.edu	37	15	50884706	50884706	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:50884706C>T	uc001zyt.3	-	26	3990	c.3726G>A	c.(3724-3726)ACG>ACA	p.T1242T	TRPM7_uc010bew.1_Silent_p.T1242T	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1242	Cytoplasmic (Potential).|By similarity.				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATGTATCTACCGTCAGGGCTG	0.388												
AP4E1	23431	broad.mit.edu	37	15	51242094	51242094	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:51242094A>G	uc001zyx.1	+	12	1418	c.1388A>G	c.(1387-1389)CAT>CGT	p.H463R		NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	463					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GATGTAATGCATCCTGATATT	0.338												
MYO5A	4644	broad.mit.edu	37	15	52643603	52643603	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:52643603T>C	uc002aby.2	-	28	3941	c.3697A>G	c.(3697-3699)AGT>GGT	p.S1233G	MYO5A_uc002abx.3_Missense_Mutation_p.S1233G|MYO5A_uc010ugd.1_5'UTR|MYO5A_uc002aca.1_5'UTR|MYO5A_uc002acb.1_5'UTR|MYO5A_uc002acc.1_5'UTR	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1233	Potential.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCTGGGGCACTTTTCTCACTG	0.498												
MYO5A	4644	broad.mit.edu	37	15	52688528	52688528	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:52688528C>T	uc002aby.2	-	11	1630	c.1386G>A	c.(1384-1386)CAG>CAA	p.Q462Q	MYO5A_uc002abx.3_Silent_p.Q462Q|MYO5A_uc010uge.1_Silent_p.Q331Q	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	462	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGAATTGTTGCTGTAGTTTTT	0.284												
UNC13C	440279	broad.mit.edu	37	15	54307979	54307979	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:54307979T>C	uc002ack.2	+	1	2879	c.2879T>C	c.(2878-2880)GTG>GCG	p.V960A		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	960					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAACAGCCAGTGGAGATCACA	0.403												
HERC1	8925	broad.mit.edu	37	15	64056318	64056318	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:64056318C>T	uc002amp.2	-	3	1151	c.1003G>A	c.(1003-1005)GCA>ACA	p.A335T	HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.A335T	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	335					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						CATAATGCTGCCTCGTAAAGG	0.403												
DENND4A	10260	broad.mit.edu	37	15	65968867	65968867	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:65968867A>C	uc002aph.2	-	23	4531	c.4153T>G	c.(4153-4155)TCC>GCC	p.S1385A	DENND4A_uc002api.2_Missense_Mutation_p.S1428A	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TCTTGAGAGGAGATAGGTCCT	0.453												
THSD4	79875	broad.mit.edu	37	15	72040765	72040765	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:72040765G>T	uc002atb.1	+	13	2326	c.2247G>T	c.(2245-2247)TCG>TCT	p.S749S	THSD4_uc002ate.2_Silent_p.S389S	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	749	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						TTCAGTGCTCGGTGCCCTGCG	0.577												
CLK3	1198	broad.mit.edu	37	15	74914516	74914516	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:74914516G>A	uc010uln.1	+	4	1330	c.869G>A	c.(868-870)GGT>GAT	p.G290D	CLK3_uc002ayg.3_Missense_Mutation_p.G142D|CLK3_uc002ayh.3_Intron|CLK3_uc010ulm.1_3'UTR|CLK3_uc002ayj.3_Missense_Mutation_p.G142D|CLK3_uc002ayk.3_Missense_Mutation_p.G69D|CLK3_uc002ayl.3_5'Flank	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	290						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						GACAAGGAGGGTCACCTGGTG	0.562												
CYP1A2	1544	broad.mit.edu	37	15	75047347	75047347	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:75047347A>G	uc002ayr.1	+	7	1533	c.1469A>G	c.(1468-1470)GAC>GGC	p.D490G		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	490					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			ovary(3)|breast(1)	4					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GTGAAAGTCGACCTGACCCCC	0.597												
COMMD4	54939	broad.mit.edu	37	15	75632127	75632127	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:75632127A>G	uc002azy.2	+	7	524	c.467A>G	c.(466-468)CAC>CGC	p.H156R	COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.2_Intron|COMMD4_uc002baa.2_Intron|COMMD4_uc010umg.1_3'UTR|COMMD4_uc010umh.1_RNA	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	156	COMM.					cytoplasm	protein binding				0						CCCATGGTGCACCTGCGGCTG	0.642												
CRABP1	1381	broad.mit.edu	37	15	78633418	78633418	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:78633418C>T	uc002bdp.2	+	2	209	c.104C>T	c.(103-105)GCG>GTG	p.A35V		NM_004378	NP_004369	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	35					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity				0					Alitretinoin(DB00523)|Etretinate(DB00926)	GTGGCCGTAGCGGCTGCGTCC	0.642												
IREB2	3658	broad.mit.edu	37	15	78757619	78757619	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:78757619C>T	uc002bdr.2	+	4	461	c.299C>T	c.(298-300)GCT>GTT	p.A100V	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Missense_Mutation_p.A100V	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	100							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GTGGATTTTGCTGCTATGAGG	0.358												
CHRNA3	1136	broad.mit.edu	37	15	78909418	78909418	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:78909418T>C	uc002bec.2	-	4	511	c.325A>G	c.(325-327)ATG>GTG	p.M109V	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.M109V	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	109	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4						GGGACACGCATGAACTCTGCC	0.552												
RASGRF1	5923	broad.mit.edu	37	15	79296391	79296391	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:79296391T>C	uc002beq.2	-	16	2625	c.2250A>G	c.(2248-2250)TCA>TCG	p.S750S	RASGRF1_uc002bep.2_Silent_p.S734S|RASGRF1_uc010blm.1_Silent_p.S659S|RASGRF1_uc002ber.3_Silent_p.S734S|RASGRF1_uc010unh.1_Silent_p.S145S|RASGRF1_uc002beo.2_5'UTR	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	750	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						GGCGGCTCGGTGACGATGTCT	0.637												
ARNT2	9915	broad.mit.edu	37	15	80806735	80806735	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:80806735G>T	uc002bfr.2	+	8	1032	c.866G>T	c.(865-867)TGG>TTG	p.W289L	ARNT2_uc010unm.1_Missense_Mutation_p.W278L|ARNT2_uc002bfs.2_Missense_Mutation_p.W278L	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	289					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATCAAGGCCTGGCCACCAGCA	0.473												
KIAA1199	57214	broad.mit.edu	37	15	81235401	81235401	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:81235401T>C	uc002bfw.1	+	27	4075	c.3815T>C	c.(3814-3816)ATA>ACA	p.I1272T	KIAA1199_uc010unn.1_Missense_Mutation_p.I1272T	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1272										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CTGCAAGGCATACCATGGCAG	0.567												
IL16	3603	broad.mit.edu	37	15	81598480	81598480	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:81598480G>A	uc002bgh.3	+	17	4028	c.3652G>A	c.(3652-3654)GCA>ACA	p.A1218T	IL16_uc010blq.1_Missense_Mutation_p.A1172T|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.A1260T|IL16_uc002bgg.2_Missense_Mutation_p.A1218T|IL16_uc002bgi.1_Missense_Mutation_p.A608T|IL16_uc002bgj.2_Missense_Mutation_p.A712T|IL16_uc002bgk.2_Missense_Mutation_p.A517T|IL16_uc002bgl.1_Missense_Mutation_p.A517T|IL16_uc010unq.1_Missense_Mutation_p.A517T	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	1218					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						CTCAGCCTCTGCAGCCAGTGA	0.557												
MEX3B	84206	broad.mit.edu	37	15	82336953	82336953	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:82336953A>G	uc002bgq.1	-	2	573	c.258T>C	c.(256-258)GGT>GGC	p.G86G		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	86	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						TGATTTTACAACCTACGAACC	0.602												
EFTUD1	79631	broad.mit.edu	37	15	82444259	82444259	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:82444259A>G	uc002bgt.1	-	18	2705	c.2536T>C	c.(2536-2538)TCA>CCA	p.S846P	EFTUD1_uc002bgs.1_Missense_Mutation_p.S217P|EFTUD1_uc002bgu.1_Missense_Mutation_p.S795P	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	846					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						GTCCATACTGAGTTCTGAAAA	0.443												
ADAMTSL3	57188	broad.mit.edu	37	15	84442355	84442355	+	Silent	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:84442355C>A	uc002bjz.3	+	4	494	c.270C>A	c.(268-270)ACC>ACA	p.T90T	ADAMTSL3_uc002bjy.1_Silent_p.T90T|ADAMTSL3_uc010bmt.1_Silent_p.T90T|ADAMTSL3_uc010bmu.1_Silent_p.T90T	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	90	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTCCCGGACCTGTGGGGGAG	0.512												
ADAMTSL3	57188	broad.mit.edu	37	15	84651224	84651224	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:84651224G>A	uc002bjz.3	+	21	3068	c.2844G>A	c.(2842-2844)AAG>AAA	p.K948K	ADAMTSL3_uc010bmt.1_Silent_p.K948K|ADAMTSL3_uc010bmu.1_Silent_p.K948K	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	948	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGTGGGAGAAGGATGGCCGTT	0.537												
ZNF592	9640	broad.mit.edu	37	15	85341570	85341570	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:85341570A>C	uc002bld.2	+	7	2937	c.2601A>C	c.(2599-2601)GAA>GAC	p.E867D	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	867					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCTCCTGTGAAATGGTCTTCA	0.527												
RLBP1	6017	broad.mit.edu	37	15	89760476	89760476	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:89760476G>A	uc002bnl.2	-	5	601	c.221C>T	c.(220-222)GCG>GTG	p.A74V		NM_000326	NP_000317	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	74					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)	1	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CCCCGAGGCCGCCTGCGCCTG	0.657												
WDR93	56964	broad.mit.edu	37	15	90274711	90274711	+	Silent	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:90274711A>C	uc002boj.2	+	12	1349	c.1248A>C	c.(1246-1248)GCA>GCC	p.A416A	WDR93_uc010bnr.2_Silent_p.A416A|WDR93_uc010upz.1_Silent_p.A133A	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	416	WD.				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CGCCCATTGCAGTCTCTCAGC	0.617												
C15orf58	390637	broad.mit.edu	37	15	90785027	90785027	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:90785027C>T	uc002bpc.2	+	4	1066	c.887C>T	c.(886-888)CCG>CTG	p.P296L		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	296					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						CGGGGAGCTCCGCCGGGAAAG	0.537												
FURIN	5045	broad.mit.edu	37	15	91422045	91422045	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:91422045C>T	uc002bpu.1	+	9	1108	c.892C>T	c.(892-894)CGG>TGG	p.R298W		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	298					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GAACGGGGGCCGGGAACATGA	0.622												
VPS33B	26276	broad.mit.edu	37	15	91542927	91542927	+	Missense_Mutation	SNP	C	C	T	rs147814686		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:91542927C>T	uc002bqp.1	-	22	2108	c.1754G>A	c.(1753-1755)CGG>CAG	p.R585Q	VPS33B_uc002bqq.1_Missense_Mutation_p.R494Q|VPS33B_uc010uqu.1_Missense_Mutation_p.R558Q	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33B (yeast homolog))	585					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			ovary(2)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCCCAGGAACCGGAGGGCTGA	0.443												
SLCO3A1	28232	broad.mit.edu	37	15	92669421	92669421	+	Silent	SNP	C	C	T	rs140581310	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:92669421C>T	uc002bqx.2	+	6	1506	c.1305C>T	c.(1303-1305)TAC>TAT	p.Y435Y	SLCO3A1_uc002bqy.2_Silent_p.Y435Y|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.Y377Y	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	435	Helical; Name=9; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTGCTTGCTACGTCTCCTTCC	0.587												
LASS3	204219	broad.mit.edu	37	15	101041961	101041961	+	Missense_Mutation	SNP	C	C	T	rs142269983		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:101041961C>T	uc002bvz.2	-	4	596	c.94G>A	c.(94-96)GTC>ATC	p.V32I	LASS3_uc002bwa.2_Missense_Mutation_p.V43I|LASS3_uc002bwb.2_Missense_Mutation_p.V32I	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	LAG1 longevity assurance homolog 3	32	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)			TTTACAAAGACGAGTCCATCG	0.373												
MPG	4350	broad.mit.edu	37	16	133169	133169	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:133169G>A	uc002cfn.2	+	4	752	c.434G>A	c.(433-435)CGC>CAC	p.R145H	MPG_uc002cfm.2_Missense_Mutation_p.R128H|MPG_uc010bqp.2_Missense_Mutation_p.R128H|MPG_uc002cfo.2_Missense_Mutation_p.R140H	NM_002434	NP_002425	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase isoform a	145					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			ovary(1)|skin(1)	2		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CAGACCCCCCGCAACCGAGGC	0.607								BER_DNA_glycosylases				
CACNA1H	8912	broad.mit.edu	37	16	1270166	1270166	+	Silent	SNP	C	C	T	rs59844753	by1000genomes	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:1270166C>T	uc002cks.2	+	35	6482	c.6234C>T	c.(6232-6234)TGC>TGT	p.C2078C	CACNA1H_uc002ckt.2_Silent_p.C2072C|CACNA1H_uc002cku.2_Silent_p.C773C|CACNA1H_uc010brj.2_Silent_p.C789C|CACNA1H_uc002ckv.2_Silent_p.C767C	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2078	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GACAGCGCTGCGTCTCCAGCC	0.741												
BAIAP3	8938	broad.mit.edu	37	16	1396000	1396000	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:1396000C>T	uc002clk.1	+	24	2327	c.2327C>T	c.(2326-2328)GCC>GTC	p.A776V	BAIAP3_uc002clj.2_Missense_Mutation_p.A758V|BAIAP3_uc010uuz.1_Missense_Mutation_p.A741V|BAIAP3_uc010uva.1_Missense_Mutation_p.A713V|BAIAP3_uc010uvc.1_Missense_Mutation_p.A705V	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	776	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				GTGTGTGAGGCCACCCTCTTC	0.677												
IFT140	9742	broad.mit.edu	37	16	1630815	1630815	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:1630815T>C	uc002cmb.2	-	13	1831	c.1469A>G	c.(1468-1470)CAT>CGT	p.H490R	IFT140_uc002clz.2_Missense_Mutation_p.H141R	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	490										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				GTTTTCTTCATGCATTGCTAA	0.478												
PKD1	5310	broad.mit.edu	37	16	2144016	2144016	+	Splice_Site	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:2144016T>C	uc002cos.1	-	36	10828	c.10619_splice	c.e36-1	p.G3540_splice	PKD1_uc002cot.1_Splice_Site_p.G3539_splice|PKD1_uc010bse.1_Splice_Site	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor						calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CCACCAGTCCTGGGGAAGCAG	0.682												
PKD1	5310	broad.mit.edu	37	16	2160630	2160630	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:2160630A>C	uc002cos.1	-	15	4747	c.4538T>G	c.(4537-4539)GTC>GGC	p.V1513G	PKD1_uc002cot.1_Missense_Mutation_p.V1513G	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1513	Extracellular (Potential).|PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						AGCGTGGGTGACCTCCGGACC	0.662												
CASKIN1	57524	broad.mit.edu	37	16	2233851	2233851	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:2233851A>G	uc010bsg.1	-	15	1540	c.1508T>C	c.(1507-1509)ATC>ACC	p.I503T		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	503	SAM 1.				signal transduction	cytoplasm				skin(2)	2						CATGCGGCTGATGGTGGGCAG	0.662												
OR1F1	4992	broad.mit.edu	37	16	3254280	3254280	+	Missense_Mutation	SNP	T	T	C	rs148405876	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:3254280T>C	uc010uwu.1	+	1	34	c.34T>C	c.(34-36)TTC>CTC	p.F12L		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGTCTCCGAGTTCCTCCTCCT	0.557												
TRAP1	10131	broad.mit.edu	37	16	3739122	3739122	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:3739122A>G	uc002cvt.3	-	3	353	c.264T>C	c.(262-264)CAT>CAC	p.H88H	TRAP1_uc010uxf.1_Silent_p.H35H	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	88					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				CCTGGAACTCATGTTTGGAAG	0.448												
CREBBP	1387	broad.mit.edu	37	16	3781199	3781199	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:3781199C>T	uc002cvv.2	-	30	5370	c.5166G>A	c.(5164-5166)GTG>GTA	p.V1722V	CREBBP_uc002cvw.2_Silent_p.V1684V	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1722	Interaction with TRERF1.|ZZ-type.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTACCTCGCACACAGTGCAGT	0.652			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
ADCY9	115	broad.mit.edu	37	16	4165236	4165236	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:4165236C>T	uc002cvx.2	-	2	747	c.208G>A	c.(208-210)GGA>AGA	p.G70R		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	70	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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						AGCCGGCCTCCGCCGCCCACT	0.677												
CORO7	79585	broad.mit.edu	37	16	4415045	4415045	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:4415045T>C	uc002cwh.3	-	11	977	c.857A>G	c.(856-858)TAC>TGC	p.Y286C	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.Y286C|CORO7_uc002cwg.3_Missense_Mutation_p.Y66C|CORO7_uc010uxh.1_Missense_Mutation_p.Y268C|CORO7_uc010uxi.1_Missense_Mutation_p.Y201C|CORO7_uc002cwi.1_Missense_Mutation_p.Y66C|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Missense_Mutation_p.Y66C	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	286						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						CTCGTAACAGTACAGCTGCCT	0.657												
NMRAL1	57407	broad.mit.edu	37	16	4516244	4516244	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:4516244T>C	uc002cwm.2	-	4	595	c.439A>G	c.(439-441)ATG>GTG	p.M147V	NMRAL1_uc002cwn.2_Missense_Mutation_p.M147V|NMRAL1_uc002cwo.2_Missense_Mutation_p.M147V|NMRAL1_uc002cwp.2_Missense_Mutation_p.M183V	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	147						nucleus|perinuclear region of cytoplasm	binding			kidney(1)	1						ACACTGGTCATGGGAACGCCA	0.572												
C16orf71	146562	broad.mit.edu	37	16	4794910	4794910	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:4794910A>G	uc002cxn.2	+	6	1403	c.941A>G	c.(940-942)CAG>CGG	p.Q314R		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	314										central_nervous_system(1)	1						CTCATGGAACAGCTGGCCCTC	0.607												
PPL	5493	broad.mit.edu	37	16	4934705	4934705	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:4934705C>A	uc002cyd.1	-	22	4041	c.3951G>T	c.(3949-3951)GAG>GAT	p.E1317D		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1317	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						TCTTCTGCTCCTCTGAGAGCT	0.567												
CIITA	4261	broad.mit.edu	37	16	11000482	11000482	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:11000482T>C	uc002dai.3	+	11	1266	c.1133T>C	c.(1132-1134)CTG>CCG	p.L378P	CIITA_uc002daj.3_Missense_Mutation_p.L379P|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.L378P|CIITA_uc002dah.2_Missense_Mutation_p.L330P|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	378					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						AGCAAGAGCCTGGAGCGGGAA	0.687			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|							
ABCC1	4363	broad.mit.edu	37	16	16235124	16235124	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:16235124G>A	uc010bvi.2	+	31	4757	c.4582G>A	c.(4582-4584)GCC>ACC	p.A1528T	ABCC1_uc010bvj.2_Missense_Mutation_p.A1469T|ABCC1_uc010bvk.2_Missense_Mutation_p.A1472T|ABCC1_uc010bvl.2_Missense_Mutation_p.A1463T|ABCC1_uc010bvm.2_Missense_Mutation_p.A1413T|ABCC1_uc002del.3_Missense_Mutation_p.A1422T	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1528	Cytoplasmic.				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)	GGCCAAAGACGCCGGCTTGGT	0.587												
TMC5	79838	broad.mit.edu	37	16	19452109	19452109	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:19452109A>G	uc002dgc.3	+	3	1498	c.749A>G	c.(748-750)CAT>CGT	p.H250R	TMC5_uc010vaq.1_Missense_Mutation_p.H250R|TMC5_uc002dgb.3_Missense_Mutation_p.H250R|TMC5_uc010var.1_Missense_Mutation_p.H250R	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	250	Extracellular (Potential).					integral to membrane				skin(1)	1						GAGAATGGTCATGATTATGGC	0.468												
EARS2	124454	broad.mit.edu	37	16	23541078	23541078	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:23541078A>G	uc002dlt.3	-	6	1240	c.1208T>C	c.(1207-1209)CTC>CCC	p.L403P	EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Missense_Mutation_p.L403P	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2 precursor	403					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding				0				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	TCTCAGCAGGAGGATCCTCTC	0.592												
TNRC6A	27327	broad.mit.edu	37	16	24801521	24801521	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:24801521A>G	uc002dmm.2	+	6	1672	c.1558A>G	c.(1558-1560)ACT>GCT	p.T520A	TNRC6A_uc010bxs.2_Missense_Mutation_p.T267A|TNRC6A_uc010vcc.1_Missense_Mutation_p.T267A|TNRC6A_uc002dmn.2_Missense_Mutation_p.T267A|TNRC6A_uc002dmo.2_Missense_Mutation_p.T267A	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	520	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CTCTTATGGTACTACATGGGG	0.463												
TNRC6A	27327	broad.mit.edu	37	16	24806029	24806029	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:24806029A>G	uc002dmm.2	+	8	3631	c.3517A>G	c.(3517-3519)ATG>GTG	p.M1173V	TNRC6A_uc010bxs.2_Missense_Mutation_p.M920V|TNRC6A_uc010vcc.1_Missense_Mutation_p.M920V|TNRC6A_uc002dmn.2_Missense_Mutation_p.M920V|TNRC6A_uc002dmo.2_Missense_Mutation_p.M861V	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1173	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TACAAAGAAAATGTCATCGAA	0.388												
GTF3C1	2975	broad.mit.edu	37	16	27476654	27476654	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:27476654T>G	uc002dov.1	-	33	5322	c.5282A>C	c.(5281-5283)GAG>GCG	p.E1761A	GTF3C1_uc002dou.2_Missense_Mutation_p.E1761A	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1761						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TCTGCGCAGCTCCTCCTTGTC	0.562												
GTF3C1	2975	broad.mit.edu	37	16	27497449	27497449	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:27497449T>C	uc002dov.1	-	24	3767	c.3727A>G	c.(3727-3729)AGG>GGG	p.R1243G	GTF3C1_uc002dou.2_Missense_Mutation_p.R1243G	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1243						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TAGCGCAGCCTTTTGCTTTTT	0.567												
XPO6	23214	broad.mit.edu	37	16	28167613	28167613	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:28167613G>A	uc002dpa.1	-	7	1380	c.879C>T	c.(877-879)AAC>AAT	p.N293N	XPO6_uc002dpb.1_Silent_p.N279N|XPO6_uc010vcp.1_Silent_p.N293N	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	293					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						GGCTGCTGCCGTTAACTGACG	0.572												
CCDC101	112869	broad.mit.edu	37	16	28596283	28596283	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:28596283A>G	uc002dqf.2	+	3	310	c.125A>G	c.(124-126)CAT>CGT	p.H42R	uc010vct.1_Intron	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	42	Potential.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(1)	1						CAGAAGACCCATGAGCGGATG	0.547												
SULT1A2	6799	broad.mit.edu	37	16	28604641	28604641	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:28604641C>T	uc002dqg.1	-	6	877	c.526G>A	c.(526-528)GTG>ATG	p.V176M	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.V176M	NM_177528	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A,	176					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						CACTCTTGCACGTGCTGGTAC	0.587												
ATXN2L	11273	broad.mit.edu	37	16	28845454	28845454	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:28845454G>T	uc002drc.2	+	16	2262	c.2094G>T	c.(2092-2094)CTG>CTT	p.L698L	uc010vct.1_Intron|ATXN2L_uc002drb.2_Silent_p.L698L|ATXN2L_uc002dqy.2_Silent_p.L698L|ATXN2L_uc002dra.2_Silent_p.L698L|ATXN2L_uc002dqz.2_Silent_p.L698L|ATXN2L_uc010vdb.1_Silent_p.L704L|ATXN2L_uc002dre.2_Silent_p.L698L|ATXN2L_uc002drf.2_Silent_p.L107L|ATXN2L_uc002drg.2_5'UTR	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	698						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						TCCCGGTGCTGACAGCAGGCC	0.542												
RABEP2	79874	broad.mit.edu	37	16	28931233	28931233	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:28931233G>A	uc002drq.2	-	3	354	c.306C>T	c.(304-306)ACC>ACT	p.T102T	uc010vct.1_Intron|RABEP2_uc010vdf.1_Silent_p.T31T|RABEP2_uc010byn.2_Silent_p.T102T|RABEP2_uc002drr.2_Silent_p.T102T	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	102	Potential.				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			ovary(1)|breast(1)|skin(1)	3						GCTTCAGGGCGGTGATCTGGG	0.552												
NFATC2IP	84901	broad.mit.edu	37	16	28970321	28970321	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:28970321T>C	uc002dru.2	+	7	1016	c.1001T>C	c.(1000-1002)GTA>GCA	p.V334A	uc010vct.1_Intron|NFATC2IP_uc002drt.2_Missense_Mutation_p.V55A|NFATC2IP_uc002drv.2_Missense_Mutation_p.V53A|NFATC2IP_uc010vdh.1_Missense_Mutation_p.V42A	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	334						cytoplasm|nucleus				ovary(1)	1						GACTGTGTGGTACTAACAAGT	0.587												
TAOK2	9344	broad.mit.edu	37	16	29989427	29989427	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:29989427T>C	uc002dva.1	+	3	933	c.150T>C	c.(148-150)AAT>AAC	p.N50N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.N50N|TAOK2_uc002dvc.1_Silent_p.N50N|TAOK2_uc010bzm.1_Silent_p.N50N|TAOK2_uc002dvd.1_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	50	Protein kinase.				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						ATGTCCGGAATAGTGAGGTGG	0.587												
TAOK2	9344	broad.mit.edu	37	16	30002182	30002182	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:30002182C>T	uc002dvc.1	+	18	3306	c.2523C>T	c.(2521-2523)AAC>AAT	p.N841N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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						AGCTGCTCAACGCTTACCAGA	0.622												
ZNF629	23361	broad.mit.edu	37	16	30793629	30793629	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:30793629G>A	uc002dzs.1	-	3	2228	c.2020C>T	c.(2020-2022)CGC>TGC	p.R674C		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	674	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			AGCACAGAGCGATCCAGGAAG	0.612												
BCL7C	9274	broad.mit.edu	37	16	30899188	30899188	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:30899188A>G	uc002dzv.2	-	6	786	c.652T>C	c.(652-654)TGA>CGA	p.*218R	BCL7C_uc002dzt.1_Intron|uc002dzu.2_Intron	NM_004765	NP_004756	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	218					apoptosis						0			Colorectal(24;0.198)			CCGGCTTCTCAGGGGTCAGGG	0.567												
SETD1A	9739	broad.mit.edu	37	16	30992103	30992103	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:30992103G>A	uc002ead.1	+	16	5311	c.4625G>A	c.(4624-4626)CGG>CAG	p.R1542Q		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						GAGCAGCGGCGGCTGCTGAGC	0.542												
PHKB	5257	broad.mit.edu	37	16	47630429	47630429	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:47630429C>T	uc002eev.3	+	13	1402	c.1350C>T	c.(1348-1350)ATC>ATT	p.I450I	PHKB_uc002eeu.3_Silent_p.I443I	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	450					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTTATATCATCGCAAAACTCC	0.363												
CCDC135	84229	broad.mit.edu	37	16	57732056	57732056	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:57732056G>A	uc002emi.2	+	2	284	c.195G>A	c.(193-195)GCG>GCA	p.A65A	CCDC135_uc002emj.2_Silent_p.A65A|CCDC135_uc002emk.2_Silent_p.A65A	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	65	Potential.					cytoplasm				central_nervous_system(1)	1						CTGTCTCAGCGGAGCTCCCGT	0.617												
KIFC3	3801	broad.mit.edu	37	16	57829017	57829017	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:57829017T>C	uc002emp.2	-	3	406	c.209A>G	c.(208-210)GAC>GGC	p.D70G	KIFC3_uc010cdf.2_5'UTR|KIFC3_uc002emo.3_5'UTR|KIFC3_uc010vhy.1_5'UTR|KIFC3_uc002emq.2_Missense_Mutation_p.D70G|KIFC3_uc010vhz.1_Missense_Mutation_p.D92G|KIFC3_uc002emr.1_Intron|KIFC3_uc010cdg.1_Intron	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	70					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				GGCACTGGAGTCCTCGTCACC	0.637												
C16orf57	79650	broad.mit.edu	37	16	58043956	58043956	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:58043956G>A	uc002emz.2	+	3	472	c.389G>A	c.(388-390)CGC>CAC	p.R130H	C16orf57_uc010via.1_Missense_Mutation_p.R130H|C16orf57_uc002emy.2_RNA|C16orf57_uc010vib.1_Missense_Mutation_p.R130H|C16orf57_uc010vic.1_Missense_Mutation_p.R79H	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	hypothetical protein LOC79650	130											0						GTGGTTCTGCGCCACCACTGG	0.592												
CNOT1	23019	broad.mit.edu	37	16	58585059	58585059	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:58585059A>C	uc002env.2	-	24	3612	c.3319T>G	c.(3319-3321)TCA>GCA	p.S1107A	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.S1102A|CNOT1_uc002enx.2_Missense_Mutation_p.S1107A|CNOT1_uc002enz.1_Missense_Mutation_p.S536A|CNOT1_uc010vik.1_Missense_Mutation_p.S103A|SNORA46_uc002eny.1_5'Flank	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1107					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)		TTTGACTGTGAGAGATTATTG	0.363												
RRAD	6236	broad.mit.edu	37	16	66956070	66956070	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:66956070T>C	uc002eqn.2	-	5	988	c.836A>G	c.(835-837)AAG>AGG	p.K279R	RRAD_uc002eqo.2_Missense_Mutation_p.K279R	NM_001128850	NP_001122322	P55042	RAD_HUMAN	Ras-related associated with diabetes	279	Calmodulin-binding.				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CAAGAAGCGCTTCGCCTTTTT	0.622												
C16orf48	84080	broad.mit.edu	37	16	67697207	67697207	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:67697207G>A	uc002etw.1	-	7	1181	c.898C>T	c.(898-900)CGT>TGT	p.R300C	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|C16orf48_uc002etv.1_Missense_Mutation_p.R182C|C16orf48_uc010cem.1_3'UTR	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	hypothetical protein LOC84080	300						microtubule cytoskeleton	protein binding				0		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ACCAGCTCACGCAGCAGCTGG	0.672												
GFOD2	81577	broad.mit.edu	37	16	67709180	67709180	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:67709180T>C	uc002eub.2	-	3	1331	c.1036A>G	c.(1036-1038)AGC>GGC	p.S346G	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.S241G	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	346						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TCCACCACGCTCTGCATGTAC	0.672												
EDC4	23644	broad.mit.edu	37	16	67915891	67915891	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:67915891G>A	uc002eur.2	+	23	3205	c.3039G>A	c.(3037-3039)CAG>CAA	p.Q1013Q	EDC4_uc010cer.2_Silent_p.Q632Q|EDC4_uc002eus.2_Silent_p.Q743Q|EDC4_uc002eut.1_5'Flank|NRN1L_uc002euu.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	1013	Potential.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGAGGGGCAGCAGCGGGGAG	0.637												
COG8	84342	broad.mit.edu	37	16	69368633	69368633	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:69368633C>T	uc002ewy.2	-	3	1275	c.1204G>A	c.(1204-1206)GCT>ACT	p.A402T	COG8_uc002ewz.3_Missense_Mutation_p.A402T	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	402					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						ATGGCTGGAGCCGAGATGAGC	0.562												
AARS	16	broad.mit.edu	37	16	70291987	70291987	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:70291987T>C	uc002eyn.1	-	15	2236	c.2126A>G	c.(2125-2127)GAC>GGC	p.D709G	AARS_uc010vlu.1_Missense_Mutation_p.D539G	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	709					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CCCAGAGGGGTCATCCAGCAA	0.587												
COG4	25839	broad.mit.edu	37	16	70548291	70548291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:70548291C>T	uc002ezc.2	-	4	502	c.491G>A	c.(490-492)CGC>CAC	p.R164H	COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R164H|COG4_uc002eze.2_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	160					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				GCACAAGTAGCGATGAGTATG	0.313												
MTSS1L	92154	broad.mit.edu	37	16	70698190	70698190	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:70698190G>A	uc002ezj.2	-	15	1894	c.1634C>T	c.(1633-1635)GCG>GTG	p.A545V		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	545					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						GGGCAGCCCCGCGGTGGGCAG	0.726												
HYDIN	54768	broad.mit.edu	37	16	70902576	70902576	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:70902576T>C	uc002ezr.2	-	66	11332	c.11204A>G	c.(11203-11205)CAG>CGG	p.Q3735R	HYDIN_uc010cfy.2_5'Flank	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3736										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TGCAGGGAGCTGAAACATAAT	0.522												
CFDP1	10428	broad.mit.edu	37	16	75446576	75446576	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:75446576T>C	uc002fdy.2	-	3	396	c.259A>G	c.(259-261)AGT>GGT	p.S87G	CFDP1_uc002fdz.2_Silent_p.V10V|CFDP1_uc002fea.1_Missense_Mutation_p.S87G	NM_006324	NP_006315	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	87	Glu-rich.				multicellular organismal development					upper_aerodigestive_tract(1)	1						TCCTCCTCACTACTGCTTCCC	0.493												
CHST6	4166	broad.mit.edu	37	16	75513137	75513137	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:75513137A>G	uc002fef.2	-	3	770	c.590T>C	c.(589-591)ATC>ACC	p.I197T	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.I197T	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	197	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						CAGGTGCACGATGCGTAGGTT	0.687												
CHST5	23563	broad.mit.edu	37	16	75563650	75563650	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:75563650G>A	uc002fei.2	-	3	2028	c.633C>T	c.(631-633)AGC>AGT	p.S211S	CHST5_uc002fej.1_Silent_p.S217S	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	211	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GCGCGGGGTCGCTGAGCAGCG	0.706												
CHST5	23563	broad.mit.edu	37	16	75564048	75564048	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:75564048C>A	uc002fei.2	-	3	1630	c.235G>T	c.(235-237)GGC>TGC	p.G79C	CHST5_uc002fej.1_Missense_Mutation_p.G85C	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	79	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						AAGAGCTGGCCCAAGAAGGAT	0.667												
MON1B	22879	broad.mit.edu	37	16	77227598	77227598	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:77227598G>A	uc002fez.2	+	3	729	c.399G>A	c.(397-399)TCG>TCA	p.S133S	MON1B_uc010vnf.1_Intron|MON1B_uc010vng.1_Intron|MON1B_uc002ffa.2_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	133							protein binding				0						AGGCGCTGTCGGCTACCATGG	0.597												
PKD1L2	114780	broad.mit.edu	37	16	81181847	81181847	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:81181847C>T	uc002fgh.1	-	29	4869	c.4869G>A	c.(4867-4869)GCG>GCA	p.A1623A	PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1623	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TCTGCTCCTTCGCGACCCGGG	0.597												
GAN	8139	broad.mit.edu	37	16	81388112	81388112	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:81388112A>G	uc002fgo.2	+	3	533	c.385A>G	c.(385-387)ATT>GTT	p.I129V		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	129					cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				GGAAGGCTGCATTGCTGCTGA	0.468												
MPHOSPH6	10200	broad.mit.edu	37	16	82182417	82182417	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:82182417G>A	uc002fgw.2	-	5	451	c.402C>T	c.(400-402)GAC>GAT	p.D134D		NM_005792	NP_005783	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	134					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding				0						AATTGGCATGGTCTCTCTTTC	0.398												
MBTPS1	8720	broad.mit.edu	37	16	84125452	84125452	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:84125452A>G	uc002fhi.2	-	7	1350	c.848T>C	c.(847-849)GTA>GCA	p.V283A		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	283	Serine protease.|Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						TGTGTAAGATACCTAGTTAAA	0.363												
ADAD2	161931	broad.mit.edu	37	16	84224937	84224937	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:84224937C>T	uc002fhr.2	+	1	215	c.101C>T	c.(100-102)CCG>CTG	p.P34L	ADAD2_uc002fhq.2_Missense_Mutation_p.P34L	NM_001145400	NP_001138872	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2 isoform	34					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding				0						CCCTGGCGACCGCTACCCGCC	0.612												
KLHL36	79786	broad.mit.edu	37	16	84695477	84695477	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:84695477C>T	uc002fig.2	+	5	1730	c.1589C>T	c.(1588-1590)GCG>GTG	p.A530V	KLHL36_uc010chl.2_Missense_Mutation_p.A466V|uc002fih.2_5'Flank	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	530	Kelch 5.									skin(2)	2						ACCCGCGTGGCGCCGCTGCTG	0.662												
FOXF1	2294	broad.mit.edu	37	16	86544482	86544482	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:86544482A>G	uc002fjl.2	+	1	350	c.307A>G	c.(307-309)AAC>GAC	p.N103D	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	103	Fork-head.				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel 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 factor binding				0						CCTCTCGCTCAACGAGTGCTT	0.632												
KLHDC4	54758	broad.mit.edu	37	16	87744970	87744970	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:87744970C>T	uc002fki.2	-	9	961	c.915G>A	c.(913-915)CCG>CCA	p.P305P	KLHDC4_uc002fkh.1_5'Flank|KLHDC4_uc010cht.1_Silent_p.P124P|KLHDC4_uc002fkj.2_Silent_p.P274P|KLHDC4_uc002fkk.2_Silent_p.P124P|KLHDC4_uc002fkl.2_Silent_p.P248P|KLHDC4_uc010chu.1_Silent_p.P124P	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	305										pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCTGGTGATTCGGGGCCATGG	0.567												
CYBA	1535	broad.mit.edu	37	16	88713177	88713177	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:88713177G>A	uc002flb.2	-	4	309	c.273C>T	c.(271-273)GCC>GCT	p.A91A	CYBA_uc002flc.1_5'Flank|CYBA_uc002fld.1_Silent_p.A91A|CYBA_uc010chx.1_Silent_p.A91A	NM_000101	NP_000092	P13498	CY24A_HUMAN	cytochrome b, alpha polypeptide	91					cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GATGCAGGACGGCCCGAACAT	0.667												
CTU2	348180	broad.mit.edu	37	16	88779164	88779164	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:88779164G>A	uc002flm.2	+	7	636	c.588G>A	c.(586-588)CCG>CCA	p.P196P	CTU2_uc002fln.2_Silent_p.P196P|CTU2_uc010chz.2_Silent_p.P267P|CTU2_uc010cia.2_Silent_p.P109P	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	cytoplasmic tRNA 2-thiolation protein 2 isoform	196					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1						GTCCTGGCCCGACTCAAGGGG	0.687												
ACSF3	197322	broad.mit.edu	37	16	89169058	89169058	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:89169058T>C	uc002fmp.2	+	4	1053	c.713T>C	c.(712-714)ATC>ACC	p.I238T	ACSF3_uc010cig.1_Missense_Mutation_p.I238T|ACSF3_uc010cih.1_5'UTR|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_5'UTR	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3 precursor	238					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GACGACGTGATCCTCCACGTG	0.617												
ZNF778	197320	broad.mit.edu	37	16	89293297	89293297	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:89293297G>A	uc002fmv.2	+	6	856	c.517G>A	c.(517-519)GGT>AGT	p.G173S	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.G131S|ZNF778_uc010vpg.1_5'UTR	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TTCCGTGTTGGGTCAGTGTGG	0.438												
SPG7	6687	broad.mit.edu	37	16	89590439	89590439	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:89590439C>T	uc002fnj.2	+	4	423	c.402C>T	c.(400-402)GAC>GAT	p.D134D	SPG7_uc002fni.2_Silent_p.D134D	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	134	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GTGAGCGGGACGACCAGATGT	0.587												
CDK10	8558	broad.mit.edu	37	16	89758245	89758245	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:89758245G>A	uc010cio.2	+	5	410	c.367G>A	c.(367-369)GAC>AAC	p.D123N	CDK10_uc002foa.2_Missense_Mutation_p.D117N|CDK10_uc010cip.2_Missense_Mutation_p.D52N|CDK10_uc010vpl.1_Missense_Mutation_p.D117N|CDK10_uc002fob.2_Missense_Mutation_p.D52N|CDK10_uc002fod.2_Missense_Mutation_p.D52N|CDK10_uc002foe.2_Missense_Mutation_p.D52N|CDK10_uc002fof.2_Missense_Mutation_p.D52N|CDK10_uc002fog.3_Missense_Mutation_p.D52N|CDK10_uc002foh.3_Missense_Mutation_p.D52N	NM_052988	NP_443714	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10 isoform a	123	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CTGTGAGCAGGACCTGGCCAG	0.607												
FANCA	2175	broad.mit.edu	37	16	89871719	89871719	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:89871719C>A	uc002fou.1	-	7	720	c.678G>T	c.(676-678)CAG>CAT	p.Q226H	FANCA_uc010vpn.1_Missense_Mutation_p.Q226H|FANCA_uc002fov.1_Missense_Mutation_p.Q209H|FANCA_uc002fow.1_Missense_Mutation_p.Q226H|FANCA_uc002fox.1_Missense_Mutation_p.Q226H|FANCA_uc010ciu.1_Missense_Mutation_p.Q194H|FANCA_uc002foy.2_Missense_Mutation_p.Q226H	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	226					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CGTCAGCATGCTGGCAGGATG	0.522			D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
VPS53	55275	broad.mit.edu	37	17	534828	534828	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:534828C>A	uc002frn.2	-	8	796	c.649G>T	c.(649-651)GCA>TCA	p.A217S	VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Missense_Mutation_p.A217S|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.A188S|VPS53_uc002fro.2_Missense_Mutation_p.A19S|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	217					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TCAAAATCTGCCAGGATTTGC	0.488												
INPP5K	51763	broad.mit.edu	37	17	1401243	1401243	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:1401243G>A	uc002fsr.2	-	8	1339	c.950C>T	c.(949-951)ACG>ATG	p.T317M	INPP5K_uc002fss.2_Missense_Mutation_p.T241M|INPP5K_uc002fsq.2_Missense_Mutation_p.T241M|INPP5K_uc010cjr.2_Missense_Mutation_p.T241M|INPP5K_uc010vql.1_Missense_Mutation_p.T225M|INPP5K_uc010vqm.1_Missense_Mutation_p.T221M	NM_016532	NP_057616	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K isoform	317	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding				0						CAAGTCGAACGTGCCGGAGAC	0.577												
INPP5K	51763	broad.mit.edu	37	17	1417245	1417245	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:1417245A>G	uc002fsr.2	-	2	462	c.73T>C	c.(73-75)TCG>CCG	p.S25P	INPP5K_uc002fss.2_5'UTR|INPP5K_uc002fsq.2_5'UTR|INPP5K_uc010cjr.2_5'UTR|INPP5K_uc010vql.1_Intron|INPP5K_uc010vqm.1_Missense_Mutation_p.S25P|INPP5K_uc010cjs.2_Missense_Mutation_p.S25P	NM_016532	NP_057616	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K isoform	25	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding				0						GGCGCTGCCGAAGCCACGTTC	0.498												
SMYD4	114826	broad.mit.edu	37	17	1690197	1690197	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:1690197G>A	uc002ftm.3	-	7	1959	c.1791C>T	c.(1789-1791)TGC>TGT	p.C597C	SMYD4_uc002ftn.1_Silent_p.C452C	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	597							zinc ion binding			skin(3)|kidney(2)	5						CTGGACAGGCGCAGTCAAAGA	0.567												
SRR	63826	broad.mit.edu	37	17	2226566	2226566	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:2226566T>C	uc002fue.1	+	7	799	c.731T>C	c.(730-732)ATT>ACT	p.I244T	SRR_uc002fui.1_Missense_Mutation_p.I95T|TSR1_uc002fuj.2_3'UTR	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	serine racemase	244					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity				0		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAATCCAGCATTGGCTTGAAC	0.458												
PAFAH1B1	5048	broad.mit.edu	37	17	2570398	2570398	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:2570398A>G	uc002fuw.3	+	5	873	c.305A>G	c.(304-306)TAT>TGT	p.Y102C	PAFAH1B1_uc010ckb.1_RNA	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,	102	Interaction with NDEL1 (By similarity).|Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			skin(1)	1						CCAGAAAAATATGCATTGAGT	0.433												
SHPK	23729	broad.mit.edu	37	17	3518749	3518749	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:3518749G>T	uc002fvz.1	-	6	1009	c.906C>A	c.(904-906)GCC>GCA	p.A302A		NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	carbohydrate kinase-like	302					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			ovary(1)	1				COAD - Colon adenocarcinoma(5;0.0828)		AGGCGACTGGGGCCGTAGGGT	0.607												
ANKFY1	51479	broad.mit.edu	37	17	4077240	4077240	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:4077240C>T	uc002fxq.1	-	20	2925	c.2887G>A	c.(2887-2889)GTG>ATG	p.V963M	ANKFY1_uc002fxn.2_Missense_Mutation_p.V1005M|ANKFY1_uc002fxo.2_Missense_Mutation_p.V964M|ANKFY1_uc002fxp.2_Missense_Mutation_p.V962M|ANKFY1_uc010ckp.2_Missense_Mutation_p.V905M	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	963	ANK 18.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						GCAAAGTCCACGCCATTCTCT	0.537												
VMO1	284013	broad.mit.edu	37	17	4689578	4689578	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:4689578C>T	uc002fyx.2	-	1	152	c.70G>A	c.(70-72)GCA>ACA	p.A24T	VMO1_uc010vsh.1_Missense_Mutation_p.A24T|VMO1_uc010vsi.1_Missense_Mutation_p.A24T|VMO1_uc002fyy.2_Missense_Mutation_p.A24T|GLTPD2_uc002fza.1_5'Flank	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 isoform 1	24					vitelline membrane formation	extracellular region				ovary(1)	1						TCTGTCTGTGCACATGTGAAA	0.547												
CHRNE	1145	broad.mit.edu	37	17	4804134	4804134	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:4804134C>T	uc002fzk.1	-	8	882	c.871G>A	c.(871-873)GCC>ACC	p.A291T	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	nicotinic acetylcholine receptor epsilon	291	Helical; (Potential).				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						ATTTTCTGGGCAATGAGGAAC	0.667												
ENO3	2027	broad.mit.edu	37	17	4860186	4860186	+	Splice_Site	SNP	T	T	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:4860186T>A	uc002gab.3	+	11	1329	c.1235_splice	c.e11+2	p.R412_splice	ENO3_uc002gac.3_Splice_Site_p.R412_splice|ENO3_uc010vss.1_Splice_Site_p.R369_splice|ENO3_uc010vst.1_Splice_Site_p.R239_splice	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3						gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1						ACTCATGAGGTACAGCGGGAA	0.572											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RABEP1	9135	broad.mit.edu	37	17	5238641	5238641	+	Splice_Site	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:5238641T>C	uc002gbm.3	+	4	752	c.528_splice	c.e4+2	p.K176_splice	RABEP1_uc010clc.1_Splice_Site_p.K176_splice|RABEP1_uc010cld.1_Splice_Site_p.K133_splice|RABEP1_uc010vsw.1_Splice_Site_p.K133_splice|RABEP1_uc002gbl.3_Splice_Site_p.K176_splice|RABEP1_uc002gbj.2_Splice_Site_p.K176_splice|RABEP1_uc002gbk.2_Splice_Site_p.K176_splice	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1						apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						ATGAAAAAGGTATGAAGGAAT	0.318												
PITPNM3	83394	broad.mit.edu	37	17	6377844	6377844	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:6377844C>T	uc002gdd.3	-	10	1317	c.1166G>A	c.(1165-1167)CGC>CAC	p.R389H	PITPNM3_uc010cln.2_Missense_Mutation_p.R353H|PITPNM3_uc010clm.2_5'Flank|PITPNM3_uc002gdc.3_5'UTR	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	389					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GAAGTCAAAGCGGCCCAGGCT	0.667												
NEURL4	84461	broad.mit.edu	37	17	7229602	7229602	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:7229602T>C	uc002gga.1	-	6	1272	c.1265A>G	c.(1264-1266)TAC>TGC	p.Y422C	NEURL4_uc002ggb.1_Missense_Mutation_p.Y422C|NEURL4_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	422	NHR 2.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						GAATTCGCAGTACTCCCGGCG	0.607												
NEURL4	84461	broad.mit.edu	37	17	7230237	7230237	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:7230237T>C	uc002gga.1	-	4	892	c.885A>G	c.(883-885)CCA>CCG	p.P295P	NEURL4_uc002ggb.1_Silent_p.P295P|NEURL4_uc002ggc.1_5'Flank	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	295							protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CCCCTGCCGGTGGGGAGCTCA	0.567												
CHRNB1	1140	broad.mit.edu	37	17	7350229	7350229	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:7350229C>T	uc002ghb.2	+	4	362	c.321C>T	c.(319-321)TCC>TCT	p.S107S	CHRNB1_uc010vty.1_Silent_p.S35S|CHRNB1_uc010vtz.1_5'UTR	NM_000747	NP_000738	P11230	ACHB_HUMAN	nicotinic acetylcholine receptor beta 1 subunit	107	Extracellular (Potential).				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			ovary(2)	2		Prostate(122;0.157)				CGGCGGAATCCGTGTGGCTCC	0.488												
ALOX12B	242	broad.mit.edu	37	17	7978948	7978948	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:7978948A>G	uc002gjy.1	-	12	1880	c.1619T>C	c.(1618-1620)ATA>ACA	p.I540T		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	540	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						CTCTTTAAATATTTCCTGCAC	0.592										Multiple Myeloma(8;0.094)		
PIK3R5	23533	broad.mit.edu	37	17	8791599	8791599	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:8791599C>T	uc002glt.2	-	10	1572	c.1505G>A	c.(1504-1506)CGC>CAC	p.R502H	PIK3R5_uc010vuz.1_Missense_Mutation_p.R502H|PIK3R5_uc002glu.3_Missense_Mutation_p.R116H|PIK3R5_uc010coa.1_3'UTR|PIK3R5_uc010cob.1_Missense_Mutation_p.R116H	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	502					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GAAGGGGCGGCGGCGCTGGGG	0.677												
MYH2	4620	broad.mit.edu	37	17	10426662	10426662	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:10426662C>T	uc010coi.2	-	38	5668	c.5540G>A	c.(5539-5541)CGC>CAC	p.R1847H	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1847H|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1847	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CTCATGTTTGCGCAGACCTTT	0.463												
MYH3	4621	broad.mit.edu	37	17	10535191	10535191	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:10535191C>T	uc002gmq.1	-	34	5176	c.5099G>A	c.(5098-5100)CGG>CAG	p.R1700Q		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1700	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						CGCCAGTTTCCGGGCCCTCTC	0.647												
MPRIP	23164	broad.mit.edu	37	17	17057685	17057685	+	Silent	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:17057685C>A	uc002gqu.1	+	13	1487	c.1431C>A	c.(1429-1431)ACC>ACA	p.T477T	MPRIP_uc002gqv.1_Silent_p.T477T|MPRIP_uc002gqw.1_Silent_p.T232T	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	477	PH 2.					cytoplasm|cytoskeleton	actin binding				0						GGATCCAGACCATCATGAAGC	0.572												
RAI1	10743	broad.mit.edu	37	17	17700156	17700156	+	Silent	SNP	C	C	T	rs139432822	by1000genomes	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:17700156C>T	uc002grm.2	+	3	4363	c.3894C>T	c.(3892-3894)CCC>CCT	p.P1298P	RAI1_uc002grn.1_Silent_p.P1298P	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1298						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CGGAGACCCCCGATGCCTGCC	0.652												
SREBF1	6720	broad.mit.edu	37	17	17720439	17720439	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:17720439A>G	uc002gru.1	-	9	1812	c.1618T>C	c.(1618-1620)TGG>CGG	p.W540R	SREBF1_uc002grp.1_Missense_Mutation_p.W159R|SREBF1_uc002grq.1_Missense_Mutation_p.W59R|SREBF1_uc002grr.1_Missense_Mutation_p.W286R|SREBF1_uc002grs.1_Missense_Mutation_p.W516R|SREBF1_uc002grt.1_Missense_Mutation_p.W570R	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	540	Lumenal (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						CACTGGGCCCAGCCAGGGCCA	0.617												
DRG2	1819	broad.mit.edu	37	17	17997175	17997175	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:17997175G>T	uc002gsh.1	+	2	168	c.113G>T	c.(112-114)CGG>CTG	p.R38L	DRG2_uc010vxg.1_Missense_Mutation_p.R38L|DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.R38L	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	38					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					GCCAAGTATCGGGCCCAGCTC	0.557												
MYO15A	51168	broad.mit.edu	37	17	18071031	18071031	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:18071031C>T	uc010vxh.1	+	61	10414	c.10076C>T	c.(10075-10077)CCG>CTG	p.P3359L	MYO15A_uc010vxi.1_Missense_Mutation_p.P623L|MYO15A_uc010vxk.1_Missense_Mutation_p.P52L|MYO15A_uc010vxl.1_Missense_Mutation_p.P348L|MYO15A_uc002gsl.2_Missense_Mutation_p.P366L|MYO15A_uc010vxm.1_Intron|MYO15A_uc010cpv.2_RNA	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	3359	Tail.|FERM.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TTCTACCTGCCGAGCGTGTGA	0.667												
FAM83G	644815	broad.mit.edu	37	17	18874698	18874698	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:18874698C>A	uc002guw.2	-	6	2613	c.2446G>T	c.(2446-2448)GCC>TCC	p.A816S	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	816										ovary(1)|central_nervous_system(1)	2						TCCCGGGGGGCTTGAGCCCTC	0.627												
SLC5A10	125206	broad.mit.edu	37	17	18918512	18918512	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:18918512G>A	uc002guu.1	+	11	1282	c.1241G>A	c.(1240-1242)CGG>CAG	p.R414Q	SLC5A10_uc002gur.1_Missense_Mutation_p.R347H|SLC5A10_uc002gut.1_Missense_Mutation_p.R430Q|SLC5A10_uc002guv.1_Missense_Mutation_p.R387Q|SLC5A10_uc010vyl.1_Missense_Mutation_p.R378Q|SLC5A10_uc002gux.1_5'Flank	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	414	Helical; (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						CTGGTGGGACGGTACGGGGGT	0.642												
SLC47A2	146802	broad.mit.edu	37	17	19618513	19618513	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:19618513C>T	uc002gwe.3	-	2	316	c.141G>A	c.(139-141)CTG>CTA	p.L47L	SLC47A2_uc002gwg.3_Silent_p.L47L|SLC47A2_uc002gwf.3_Silent_p.L47L|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_5'Flank	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	solute carrier family 47, member 2 isoform 1	47	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					TCATAAAAGTCAGCACCTGGA	0.617												
MAP2K3	5606	broad.mit.edu	37	17	21215533	21215533	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:21215533C>T	uc002gys.2	+	10	1119	c.854C>T	c.(853-855)CCG>CTG	p.P285L	MAP2K3_uc002gyt.2_Missense_Mutation_p.P256L|MAP2K3_uc002gyu.2_Missense_Mutation_p.P256L	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	285	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GTGGAGGAGCCGTCCCCCCAG	0.652												
NLK	51701	broad.mit.edu	37	17	26518101	26518101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:26518101C>T	uc010crj.2	+	9	1503	c.1291C>T	c.(1291-1293)CGA>TGA	p.R431*	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	431					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGATGAAGGGCGACTACGATA	0.423												
SUPT6H	6830	broad.mit.edu	37	17	27009838	27009838	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:27009838C>T	uc002hby.2	+	14	1781	c.1691C>T	c.(1690-1692)GCG>GTG	p.A564V	SUPT6H_uc010crt.2_Missense_Mutation_p.A564V	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	564					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CAGTTTCCCGCGGAGCCCTTG	0.592												
SSH2	85464	broad.mit.edu	37	17	27957929	27957929	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:27957929T>C	uc002heo.1	-	15	4202	c.4202A>G	c.(4201-4203)CAC>CGC	p.H1401R	SSH2_uc010wbh.1_Missense_Mutation_p.H1428R	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1401					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						CCTAAGGGGGTGAGTTCTGCC	0.532												
ATAD5	79915	broad.mit.edu	37	17	29221133	29221133	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:29221133T>C	uc002hfs.1	+	21	5608	c.5262T>C	c.(5260-5262)AAT>AAC	p.N1754N		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1754					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAAAGCGCAATAATGTATACT	0.318												
NLE1	54475	broad.mit.edu	37	17	33460484	33460484	+	Silent	SNP	G	G	A	rs148833526		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:33460484G>A	uc002hiy.1	-	11	1276	c.1248C>T	c.(1246-1248)GCC>GCT	p.A416A	NLE1_uc010ctn.1_Silent_p.A124A|NLE1_uc002hiz.1_Silent_p.A124A	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Notchless gene homolog isoform a	416	WD 7.					nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)				TCTGGTACACGGCAGCCACGT	0.572												
AATF	26574	broad.mit.edu	37	17	35348137	35348137	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:35348137A>T	uc002hni.2	+	8	1630	c.1379A>T	c.(1378-1380)GAT>GTT	p.D460V	AATF_uc002hnj.2_RNA	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	460	RB1 and SP1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)				ATCTTTGATGATGATGACTTT	0.368												
GPR179	440435	broad.mit.edu	37	17	36483237	36483237	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:36483237T>C	uc002hpz.2	-	11	6236	c.6215A>G	c.(6214-6216)GAG>GGG	p.E2072G		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	2072	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACACACAGCCTCCTGCTGCCT	0.562												
NEUROD2	4761	broad.mit.edu	37	17	37762190	37762190	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:37762190G>T	uc002hry.2	-	2	863	c.663C>A	c.(661-663)GCC>GCA	p.A221A		NM_006160	NP_006151	Q15784	NDF2_HUMAN	neurogenic differentiation 2	221					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			CGGCACCGTCGGCGCCTTGCT	0.662												
NR1D1	9572	broad.mit.edu	37	17	38251794	38251794	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:38251794T>C	uc002htz.1	-	5	1777	c.1151A>G	c.(1150-1152)AAC>AGC	p.N384S	NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	384					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)					ACGGTGCCCGTTGCTGTTGGA	0.622												
NR1D1	9572	broad.mit.edu	37	17	38252042	38252042	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:38252042G>T	uc002htz.1	-	5	1529	c.903C>A	c.(901-903)ACC>ACA	p.T301T	NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	301					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)					CATGGGCGTAGGTGAAGATCT	0.592												
CASC3	22794	broad.mit.edu	37	17	38320386	38320386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:38320386C>T	uc010cwt.1	+	7	1733	c.1438C>T	c.(1438-1440)CAG>TAG	p.Q480*	CASC3_uc010cws.1_Nonsense_Mutation_p.Q480*|CASC3_uc002hue.2_Nonsense_Mutation_p.Q480*	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	480	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						GAGTCCGGGGCAGCCTTCTTT	0.498												
TNS4	84951	broad.mit.edu	37	17	38634836	38634836	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:38634836G>A	uc010cxb.2	-	11	2139	c.1975C>T	c.(1975-1977)CGG>TGG	p.R659W	TNS4_uc002huu.3_Missense_Mutation_p.R72W	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	659	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACTTACTTCCGTTGCTCAGGG	0.617												
KRT23	25984	broad.mit.edu	37	17	39092635	39092635	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:39092635G>A	uc002hvm.1	-	2	810	c.221C>T	c.(220-222)GCC>GTC	p.A74V	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.A74V|KRT23_uc002hvn.1_Missense_Mutation_p.A74V	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	74	Rod.|Coil 1A.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				CTGCATGGTGGCCTTCCCATT	0.622												
KRTAP1-5	83895	broad.mit.edu	37	17	39183218	39183218	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:39183218T>G	uc002hvu.2	-	1	237	c.190A>C	c.(190-192)AGC>CGC	p.S64R		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	keratin associated protein 1.5	64	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament					0		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TCACAGCAGCTTGGCTGGCAG	0.617												
KRT17	3872	broad.mit.edu	37	17	39780474	39780474	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:39780474G>T	uc002hxh.2	-	1	409	c.288C>A	c.(286-288)GCC>GCA	p.A96A	JUP_uc010wfs.1_Intron|KRT17_uc010wft.1_Silent_p.A96A	NM_000422	NP_000413	Q04695	K1C17_HUMAN	keratin 17	96	Coil 1A.|Rod.		Missing (in PC2).	Missing (in Ref. 5; AAH72018).	epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2		Breast(137;0.000307)				CCAGGTAGGAGGCCAGGCGGT	0.642									Steatocystoma_Multiplex			
SC65	10609	broad.mit.edu	37	17	39967232	39967232	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:39967232T>C	uc002hxt.2	-	3	954	c.670A>G	c.(670-672)ACG>GCG	p.T224A	FKBP10_uc002hxv.2_5'Flank|SC65_uc002hxu.2_Missense_Mutation_p.T315A	NM_006455	NP_006446	Q92791	SC65_HUMAN	synaptonemal complex protein SC65	224					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding				0		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.149)		ATGTCCTCCGTGCTGCTGCGG	0.647												
ACLY	47	broad.mit.edu	37	17	40039404	40039404	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:40039404C>T	uc002hyg.2	-	20	2399	c.2236G>A	c.(2236-2238)GGG>AGG	p.G746R	ACLY_uc002hyh.2_Missense_Mutation_p.G736R|ACLY_uc002hyi.2_Missense_Mutation_p.G800R|ACLY_uc010wfx.1_Missense_Mutation_p.G790R|ACLY_uc010wfy.1_Missense_Mutation_p.G475R	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	746					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				GCACACGTCCCGATGCACCAG	0.577												
EZH1	2145	broad.mit.edu	37	17	40879701	40879701	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:40879701T>C	uc002iaz.2	-	4	343	c.198A>G	c.(196-198)CAA>CAG	p.Q66Q	EZH1_uc002iba.2_Silent_p.Q66Q|EZH1_uc010wgt.1_5'UTR|EZH1_uc010wgu.1_Silent_p.Q72Q|EZH1_uc010wgv.1_Silent_p.Q66Q|EZH1_uc010wgw.1_Missense_Mutation_p.T8A|EZH1_uc010cyp.2_Missense_Mutation_p.T8A|EZH1_uc010cyq.2_Intron|EZH1_uc010cys.2_Silent_p.Q66Q	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	66					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ACTGAACAGGTTGGACACGAA	0.428												
VAT1	10493	broad.mit.edu	37	17	41168515	41168515	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:41168515G>A	uc002icm.1	-	5	1027	c.907C>T	c.(907-909)CGG>TGG	p.R303W	VAT1_uc010cyw.1_Missense_Mutation_p.R169W|VAT1_uc010whk.1_Missense_Mutation_p.R235W	NM_006373	NP_006364	Q99536	VAT1_HUMAN	vesicle amine transport protein 1	303						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CACCATGTCCGGGCCAGGGCC	0.617												
MAP3K14	9020	broad.mit.edu	37	17	43348437	43348437	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:43348437C>T	uc002iiw.1	-	11	1918	c.1809G>A	c.(1807-1809)CCG>CCA	p.P603P	MAP3K14_uc002iiu.1_Silent_p.P133P|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Silent_p.P187P	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	603	Interaction with ZFP91.|Protein kinase.				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						TGAGGCAGAGCGGCCCTCGGA	0.672											OREG0024479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ARHGAP27	201176	broad.mit.edu	37	17	43474075	43474075	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:43474075C>A	uc002iix.2	-	12	1459	c.1010G>T	c.(1009-1011)CGG>CTG	p.R337L	ARHGAP27_uc010dak.2_Missense_Mutation_p.R310L	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	678					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)					CAGTGTGGGCCGCCTCTGGAG	0.731												
IMP5	162540	broad.mit.edu	37	17	43922517	43922517	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:43922517G>A	uc010wka.1	+	1	245	c.245G>A	c.(244-246)CGC>CAC	p.R82H	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	82	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		GCCCAGCTCCGCTCCCCCAGC	0.692												
HOXB3	3213	broad.mit.edu	37	17	46628218	46628218	+	Silent	SNP	G	G	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:46628218G>C	uc002inn.2	-	2	1174	c.774C>G	c.(772-774)GGC>GGG	p.G258G	HOXB3_uc010wlm.1_Silent_p.G185G|HOXB3_uc010dbf.2_Silent_p.G258G|HOXB3_uc010dbg.2_Silent_p.G258G|HOXB3_uc002ino.2_Silent_p.G258G|HOXB3_uc010wlk.1_Silent_p.G126G|HOXB3_uc010wll.1_Silent_p.G185G	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	258					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CTGGAGATGGGCCCCCCGACG	0.637											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HOXB4	3214	broad.mit.edu	37	17	46655263	46655263	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:46655263A>G	uc002inp.2	-	1	481	c.419T>C	c.(418-420)GTC>GCC	p.V140A	HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron	NM_024015	NP_076920	P17483	HXB4_HUMAN	homeobox B4	140						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGGGTAGACGACGGGCTCTTT	0.697												
COL1A1	1277	broad.mit.edu	37	17	48263173	48263173	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:48263173C>T	uc002iqm.2	-	50	4340	c.4214G>A	c.(4213-4215)CGC>CAC	p.R1405H		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	1405	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	GTAGGTGAAGCGGCTGTTGCC	0.632			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta					
DGKE	8526	broad.mit.edu	37	17	54925289	54925289	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:54925289G>T	uc002iur.2	+	5	931	c.751G>T	c.(751-753)GAT>TAT	p.D251Y	DGKE_uc002ius.1_Missense_Mutation_p.D251Y	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	251	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)					CTAGGTTTTTGATGTAACTAA	0.363												
SCPEP1	59342	broad.mit.edu	37	17	55075765	55075765	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:55075765C>T	uc002iuv.3	+	10	953	c.900C>T	c.(898-900)CAC>CAT	p.H300H	SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Silent_p.H250H	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1 precursor	300					proteolysis	extracellular region	serine-type carboxypeptidase activity			skin(1)	1	Breast(9;2.86e-08)					GTCAGCGCCACGTGAGACACC	0.418												
MKS1	54903	broad.mit.edu	37	17	56285882	56285882	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:56285882G>A	uc002ivr.1	-	12	1162	c.1087C>T	c.(1087-1089)CTG>TTG	p.L363L	MKS1_uc010wnq.1_Silent_p.L160L|MKS1_uc002ivs.1_Silent_p.L363L	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1	363	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						ACCATTGCCAGGGACTTGGTG	0.527												
SUPT4H1	6827	broad.mit.edu	37	17	56423650	56423650	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:56423650C>T	uc002iwe.1	-	5	378	c.311G>A	c.(310-312)CGA>CAA	p.R104Q	uc010dct.1_Intron|uc010dcu.1_Intron|uc002ivz.2_Intron|uc010dcv.1_Intron|uc002iwa.2_RNA|uc002iwb.2_Intron|uc002iwc.2_Intron|SUPT4H1_uc002iwd.1_RNA	NM_003168	NP_003159	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1	104				QGIVRELKSRGVAYKSRDTAIKT -> HAKDSRSNVNKYEP RESSEGHDTCLASLFHSLRHSNSLFAL (in Ref. 3; BAC85230).	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)					GGCCACTCCTCGACTTTTCAG	0.493												
TLK2	11011	broad.mit.edu	37	17	60685462	60685462	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:60685462A>G	uc010ddp.2	+	22	2366	c.2098A>G	c.(2098-2100)ACT>GCT	p.T700A	TLK2_uc002izx.3_Missense_Mutation_p.T526A|TLK2_uc002izz.3_Missense_Mutation_p.T678A|TLK2_uc002jaa.3_Missense_Mutation_p.T646A|TLK2_uc010wpd.1_Missense_Mutation_p.T646A	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	700	Protein kinase.				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						TCTTAAAGCTACTGAAGTGCA	0.428												
MARCH10	162333	broad.mit.edu	37	17	60837243	60837243	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:60837243A>G	uc010ddr.2	-	4	573	c.335T>C	c.(334-336)ATG>ACG	p.M112T	MARCH10_uc002jag.3_Missense_Mutation_p.M112T|MARCH10_uc010dds.2_Missense_Mutation_p.M112T|MARCH10_uc002jah.2_Missense_Mutation_p.M112T	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	112							ligase activity|zinc ion binding				0						CCTTACAGTCATGGTACTTTT	0.413												
TANC2	26115	broad.mit.edu	37	17	61498806	61498806	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:61498806C>T	uc002jal.3	+	25	5486	c.5463C>T	c.(5461-5463)GAC>GAT	p.D1821D	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Silent_p.D932D	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1821							binding			ovary(2)	2						GGTCATGTGACGAGCTGTCGC	0.532												
MAP3K3	4215	broad.mit.edu	37	17	61759260	61759260	+	Splice_Site	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:61759260G>A	uc002jbg.2	+	7	955	c.636_splice	c.e7+1	p.C212_splice	MAP3K3_uc002jbe.2_Splice_Site_p.C243_splice|MAP3K3_uc002jbf.2_Splice_Site_p.C243_splice|MAP3K3_uc002jbh.2_Splice_Site_p.C243_splice|MAP3K3_uc010wpo.1_Splice_Site_p.C127_splice|MAP3K3_uc010wpp.1_Splice_Site_p.C212_splice	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3						MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						CGAGCAGTGCGTGAGTATAGG	0.562												
LRRC37A3	374819	broad.mit.edu	37	17	62893280	62893280	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:62893280T>C	uc002jey.2	-	3	627	c.96A>G	c.(94-96)CTA>CTG	p.L32L	LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	32						integral to membrane					0						CCTTGACTAGTAGCCACAATA	0.627												
CACNG4	27092	broad.mit.edu	37	17	65014359	65014359	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:65014359A>G	uc002jft.1	+	2	290	c.275A>G	c.(274-276)TAC>TGC	p.Y92C		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	voltage-dependent calcium channel gamma-4	92	Extracellular (Potential).				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)	1	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GACAATGACTACGACCACGAC	0.557												
ABCA9	10350	broad.mit.edu	37	17	66981227	66981227	+	Silent	SNP	G	G	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:66981227G>C	uc002jhu.2	-	33	4394	c.4251C>G	c.(4249-4251)CCC>CCG	p.P1417P	ABCA9_uc010dez.2_Silent_p.P1379P	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1417	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)					AGGTCTTCACGGGAGCCTTCA	0.532												
ABCA9	10350	broad.mit.edu	37	17	66981232	66981232	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:66981232C>A	uc002jhu.2	-	33	4389	c.4246G>T	c.(4246-4248)GCT>TCT	p.A1416S	ABCA9_uc010dez.2_Missense_Mutation_p.A1378S	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1416	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)					TTCACGGGAGCCTTCAGCTGG	0.527												
GRIN2C	2905	broad.mit.edu	37	17	72851126	72851126	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:72851126A>T	uc002jlt.1	-	2	262	c.106T>A	c.(106-108)TTT>ATT	p.F36I	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.F36I|GRIN2C_uc002jlv.1_Missense_Mutation_p.F36I	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	36	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GAGCTGCTAAACACCACAGCC	0.706												
USH1G	124590	broad.mit.edu	37	17	72916353	72916353	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:72916353A>C	uc002jme.1	-	2	761	c.578T>G	c.(577-579)CTG>CGG	p.L193R	USH1G_uc010wro.1_Missense_Mutation_p.L90R	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	193					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton				skin(2)	2	all_lung(278;0.172)|Lung NSC(278;0.207)					GCCCAGCGCCAGATGCTGCAG	0.692												
ICT1	3396	broad.mit.edu	37	17	73008915	73008915	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:73008915T>C	uc002jmm.2	+	1	136	c.134T>C	c.(133-135)CTG>CCG	p.L45P		NM_001545	NP_001536	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1 precursor	45					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			ovary(1)|central_nervous_system(1)	2	all_lung(278;0.226)					ATCTACAGCCTGGACAAGCTC	0.662											OREG0024724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KCTD2	23510	broad.mit.edu	37	17	73043606	73043606	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:73043606A>C	uc002jmp.2	+	1	328	c.261A>C	c.(259-261)AGA>AGC	p.R87S	KCTD2_uc010dfy.1_Intron|KCTD2_uc010dfz.2_Intron|ATP5H_uc002jmn.1_5'Flank|ATP5H_uc002jmo.1_5'Flank|KCTD2_uc002jmq.2_RNA	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	potassium channel tetramerisation domain	87	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0	all_lung(278;0.226)					TGACCACCAGACAGACCTTAG	0.388												
KIAA0195	9772	broad.mit.edu	37	17	73485723	73485723	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:73485723T>C	uc002jnz.3	+	9	1209	c.934T>C	c.(934-936)TAC>CAC	p.Y312H	KIAA0195_uc010wsa.1_Missense_Mutation_p.Y322H|KIAA0195_uc010wsb.1_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	312					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCCTGGCAGTACACCCTCCT	0.632												
CASKIN2	57513	broad.mit.edu	37	17	73504338	73504338	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:73504338G>A	uc002joc.2	-	3	673	c.123C>T	c.(121-123)AAC>AAT	p.N41N	CASKIN2_uc010wsc.1_Translation_Start_Site|CASKIN2_uc002jod.2_Silent_p.N41N	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	41						cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGTAGTTCACGTTGAGCCTCT	0.627												
ITGB4	3691	broad.mit.edu	37	17	73750744	73750744	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:73750744A>T	uc002jpg.2	+	34	4593	c.4406A>T	c.(4405-4407)TAT>TTT	p.Y1469F	ITGB4_uc002jph.2_Missense_Mutation_p.Y1399F|ITGB4_uc002jpi.3_Missense_Mutation_p.Y1399F|ITGB4_uc002jpj.2_Missense_Mutation_p.Y1399F|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1469	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)			GCTGCTGCCTATGGCACCCAC	0.622												
UNC13D	201294	broad.mit.edu	37	17	73836398	73836398	+	Silent	SNP	G	G	T	rs121434352		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:73836398G>T	uc002jpp.2	-	10	1146	c.766C>A	c.(766-768)CGA>AGA	p.R256R	UNC13D_uc010wsk.1_Silent_p.R256R|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Silent_p.R53R	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	256	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGTCCTCTCGGCAGCGCAGG	0.657									Familial_Hemophagocytic_Lymphohistiocytosis			
ACOX1	51	broad.mit.edu	37	17	73945329	73945329	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:73945329C>A	uc002jqf.2	-	12	1987	c.1697G>T	c.(1696-1698)GGA>GTA	p.G566V	ACOX1_uc010wsq.1_Missense_Mutation_p.G528V|ACOX1_uc002jqe.2_Missense_Mutation_p.G566V|ACOX1_uc010wsr.1_Missense_Mutation_p.G498V	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	566					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						CTGACTGATTCCATACAGAGA	0.318												
UBE2O	63893	broad.mit.edu	37	17	74387141	74387141	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:74387141G>A	uc002jrm.3	-	18	3827	c.3762C>T	c.(3760-3762)ATC>ATT	p.I1254I	UBE2O_uc002jrl.3_Silent_p.I858I	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1254							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						GGGGGAAGCCGATGTCAGGGT	0.587												
ST6GALNAC1	55808	broad.mit.edu	37	17	74622396	74622396	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:74622396T>G	uc002jsh.2	-	6	1564	c.1390A>C	c.(1390-1392)ATG>CTG	p.M464L	ST6GALNAC1_uc002jsi.2_Missense_Mutation_p.M332L|ST6GALNAC1_uc002jsj.2_Intron	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	464	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0						TTTTTTGACATCACCGTCTGA	0.542												
ENGASE	64772	broad.mit.edu	37	17	77080692	77080692	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:77080692G>A	uc002jwv.2	+	11	1523	c.1515G>A	c.(1513-1515)ACG>ACA	p.T505T	ENGASE_uc002jww.2_Silent_p.T211T	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	505						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						AGGGGCCCACGGACGTCACAG	0.582												
CCDC40	55036	broad.mit.edu	37	17	78013751	78013751	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:78013751A>G	uc010dht.2	+	3	261	c.234A>G	c.(232-234)GAA>GAG	p.E78E	CCDC40_uc010wub.1_Silent_p.E78E	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	78					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			cagcagtggaaggggaagagg	0.353												
RNF213	57674	broad.mit.edu	37	17	78319491	78319491	+	Silent	SNP	C	C	T	rs138032722	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:78319491C>T	uc002jyh.1	+	4	1798	c.1575C>T	c.(1573-1575)CAC>CAT	p.H525H		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCAAGGTGCACGGAGGAACAA	0.498												
SIRT7	51547	broad.mit.edu	37	17	79870360	79870360	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:79870360C>T	uc002kcj.1	-	10	1168	c.1135G>A	c.(1135-1137)GCC>ACC	p.A379T	PCYT2_uc010wva.1_5'Flank|PCYT2_uc010wvb.1_5'Flank|PCYT2_uc002kce.1_5'Flank|PCYT2_uc002kcf.1_5'Flank|PCYT2_uc002kcg.1_5'Flank|PCYT2_uc002kch.1_5'Flank|PCYT2_uc002kci.1_5'Flank|PCYT2_uc010dii.1_5'Flank|PCYT2_uc010wvc.1_5'Flank|SIRT7_uc002kck.1_Missense_Mutation_p.A230T|SIRT7_uc002kcl.1_Missense_Mutation_p.A297T	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	sirtuin 7	379					chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGGATGGGGGCCGAGCTAAGC	0.597												
GPS1	2873	broad.mit.edu	37	17	80014641	80014641	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:80014641A>G	uc002kdl.1	+	11	1310	c.1265A>G	c.(1264-1266)AAG>AGG	p.K422R	GPS1_uc002kdk.1_Missense_Mutation_p.K458R|GPS1_uc010dij.1_Missense_Mutation_p.K457R|GPS1_uc002kdm.1_Missense_Mutation_p.K402R|GPS1_uc002kdn.1_Missense_Mutation_p.K418R|GPS1_uc002kdo.1_Missense_Mutation_p.K421R|GPS1_uc010wvh.1_Missense_Mutation_p.K414R	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	422	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			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)			TCACACAGCAAGGTGGCTGTG	0.667												
FASN	2194	broad.mit.edu	37	17	80049317	80049317	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:80049317G>A	uc002kdu.2	-	9	1390	c.1273C>T	c.(1273-1275)CGG>TGG	p.R425W	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	425					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCGCTGGCCCGCAGCAGACGG	0.692												
MYOM1	8736	broad.mit.edu	37	18	3084001	3084001	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:3084001A>G	uc002klp.2	-	32	4698	c.4364T>C	c.(4363-4365)GTA>GCA	p.V1455A	MYOM1_uc002klq.2_Missense_Mutation_p.V1359A	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	1455						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						TTTTTTGCATACTTCCATCAT	0.378												
MYL12A	10627	broad.mit.edu	37	18	3253948	3253948	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:3253948T>C	uc002klr.2	+	3	638	c.243T>C	c.(241-243)AAT>AAC	p.N81N	MYL12A_uc002kls.2_Silent_p.N87N	NM_006471	NP_006462	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory,	81						myosin complex	calcium ion binding|protein binding				0						GCCCCATCAATTTCACCATGT	0.393												
ARHGAP28	79822	broad.mit.edu	37	18	6887167	6887167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:6887167G>A	uc010wzi.1	+	11	1172	c.934G>A	c.(934-936)GTC>ATC	p.V312I	ARHGAP28_uc002knc.2_Missense_Mutation_p.V437I|ARHGAP28_uc002knd.2_Missense_Mutation_p.V330I|ARHGAP28_uc002kne.2_Missense_Mutation_p.V330I|ARHGAP28_uc002knf.2_Missense_Mutation_p.V321I			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	312					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				AGGGCCTCACGTCAAAGTACA	0.493												
LAMA1	284217	broad.mit.edu	37	18	6958590	6958590	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:6958590G>A	uc002knm.2	-	55	7944	c.7850C>T	c.(7849-7851)ACG>ATG	p.T2617M	LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.T70M|LAMA1_uc010wzj.1_Missense_Mutation_p.T2093M	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2617	Laminin G-like 3.				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)	CACATTTATCGTCCTGCTTTC	0.428												
LAMA1	284217	broad.mit.edu	37	18	7016644	7016644	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:7016644G>A	uc002knm.2	-	21	2929	c.2835C>T	c.(2833-2835)GGC>GGT	p.G945G	LAMA1_uc010wzj.1_Silent_p.G421G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	945	Laminin EGF-like 9.				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)	GGCAGCCATGGCCTGAGTCCA	0.527												
LAMA1	284217	broad.mit.edu	37	18	7032152	7032152	+	Silent	SNP	G	G	A	rs139947483		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:7032152G>A	uc002knm.2	-	16	2281	c.2187C>T	c.(2185-2187)CGC>CGT	p.R729R	LAMA1_uc010wzj.1_Silent_p.R205R	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	729	Laminin EGF-like 5; second part.				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)	TTCCATCCACGCGGTAATAGC	0.483												
DSG1	1828	broad.mit.edu	37	18	28914077	28914077	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:28914077T>C	uc002kwp.2	+	8	1129	c.917T>C	c.(916-918)GTA>GCA	p.V306A		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	306	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGATGGCAGTAATTTTCTTT	0.308												
FHOD3	80206	broad.mit.edu	37	18	34310665	34310665	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:34310665T>C	uc002kzt.1	+	16	2995	c.2898T>C	c.(2896-2898)AGT>AGC	p.S966S	FHOD3_uc002kzs.1_Silent_p.S983S|FHOD3_uc010dmz.1_Silent_p.S698S|FHOD3_uc010dnb.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	966	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCAAGAGGAGTAACGCCATCA	0.408												
PIAS2	9063	broad.mit.edu	37	18	44392466	44392466	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:44392466C>A	uc002lck.2	-	14	1954	c.1796G>T	c.(1795-1797)AGC>ATC	p.S599I	PIAS2_uc010dnp.2_Missense_Mutation_p.S297I	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	599	Poly-Ser.|Ser-rich.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						ACTCCTGCTGCTGGATGAACT	0.468												
TCEB3B	51224	broad.mit.edu	37	18	44560351	44560351	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:44560351T>A	uc002lcr.1	-	1	1638	c.1285A>T	c.(1285-1287)AAA>TAA	p.K429*	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	429					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GGAGGCAATTTCTTAGCCGAA	0.542												
KIAA0427	9811	broad.mit.edu	37	18	46287883	46287883	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:46287883G>T	uc002ldc.2	+	9	1479	c.1194G>T	c.(1192-1194)GAG>GAT	p.E398D	KIAA0427_uc002ldd.2_Missense_Mutation_p.E400D|KIAA0427_uc002lde.3_Missense_Mutation_p.E27D	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	398	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						CCTTCATGGAGGAGGCCCAGA	0.587												
SMAD4	4089	broad.mit.edu	37	18	48575209	48575209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:48575209C>T	uc010xdp.1	+	3	941	c.403C>T	c.(403-405)CGA>TGA	p.R135*	SMAD4_uc010xdo.1_RNA	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	135	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.R135*(4)|p.?(4)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCACTACGAACGAGTTGTATC	0.328									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			
SMAD4	4089	broad.mit.edu	37	18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	rs80338963		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:48591918C>T	uc010xdp.1	+	9	1619	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C	SMAD4_uc002lfb.3_Missense_Mutation_p.R206C	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	361	MH2.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in JPS).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.R361S(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			
MBD2	8932	broad.mit.edu	37	18	51686245	51686245	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:51686245G>A	uc002lfg.1	-	6	1367	c.1138C>T	c.(1138-1140)CGC>TGC	p.R380C		NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2 isoform 1	380					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding				0				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	AATTTCTTGCGTACTTGCTGT	0.403												
RAB27B	5874	broad.mit.edu	37	18	52544862	52544862	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:52544862G>A	uc002lfr.2	+	2	157	c.46G>A	c.(46-48)GGG>AGG	p.G16R		NM_004163	NP_004154	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	16	GTP.				protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity				0				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CCTGGCCCTCGGGGATTCAGG	0.403												
ZNF532	55205	broad.mit.edu	37	18	56587463	56587463	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:56587463T>C	uc002lho.2	+	4	2491	c.1944T>C	c.(1942-1944)CAT>CAC	p.H648H	ZNF532_uc002lhp.2_Silent_p.H646H|ZNF532_uc010xeg.1_Silent_p.H646H|ZNF532_uc002lhr.2_Silent_p.H646H|ZNF532_uc002lhs.2_Silent_p.H646H	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CGTGCAACCATTGTACAAAGA	0.493												
MC4R	4160	broad.mit.edu	37	18	58039381	58039381	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:58039381C>T	uc002lie.1	-	1	621	c.202G>A	c.(202-204)GCA>ACA	p.A68T		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	68	Helical; Name=1; (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)				TTGGCTATTGCCACAATCACT	0.453												
ZADH2	284273	broad.mit.edu	37	18	72913630	72913630	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:72913630T>C	uc002llx.2	-	2	1143	c.875A>G	c.(874-876)AAA>AGA	p.K292R	ZADH2_uc010dqv.2_Missense_Mutation_p.K169R	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain	292						peroxisome	oxidoreductase activity|zinc ion binding				0		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CTTGAGCAGTTTGGCTGGCAA	0.502												
ZNF516	9658	broad.mit.edu	37	18	74154511	74154511	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:74154511G>A	uc010dqx.1	-	2	735	c.500C>T	c.(499-501)CCG>CTG	p.P167L	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCCTCCCCCGGGGCGCATGC	0.692												
GALR1	2587	broad.mit.edu	37	18	74962917	74962917	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:74962917T>C	uc002lms.3	+	1	910	c.413T>C	c.(412-414)GTG>GCG	p.V138A		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	138	Cytoplasmic (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GTGGCCATCGTGCACTCGCGG	0.652												
PRSSL1	400668	broad.mit.edu	37	19	685738	685738	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:685738C>A	uc002lpl.1	-	5	861	c.830G>T	c.(829-831)AGG>ATG	p.R277M	PRSSL1_uc010xfs.1_Missense_Mutation_p.R276M	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine-like 1 precursor	277					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)		TCCTGGGGGCCTGGTGGTCCC	0.682												
PRTN3	5657	broad.mit.edu	37	19	847946	847946	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:847946G>A	uc002lqa.1	+	5	772	c.748G>A	c.(748-750)GTG>ATG	p.V250M		NM_002777	NP_002768	P24158	PRTN3_HUMAN	myeloblastin	250					collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCGCCGTGTGGAGGCCAA	0.657												
WDR18	57418	broad.mit.edu	37	19	994293	994293	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:994293C>T	uc002lqm.1	+	10	1275	c.1249C>T	c.(1249-1251)CGG>TGG	p.R417W	WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Missense_Mutation_p.R380W|WDR18_uc010dry.1_Missense_Mutation_p.R394W	NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	WD repeat domain 18	417										skin(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGATCAATCGGGACCTGTT	0.701												
MIDN	90007	broad.mit.edu	37	19	1254309	1254309	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:1254309T>C	uc002lrp.2	+	5	1043	c.528T>C	c.(526-528)GCT>GCC	p.A176A		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	176						nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCCGCCGCTGCTGCGCGGG	0.746												
PCSK4	54760	broad.mit.edu	37	19	1488236	1488236	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:1488236C>T	uc002ltb.1	-	3	400	c.338G>A	c.(337-339)CGC>CAC	p.R113H	PCSK4_uc002lta.2_5'UTR|REEP6_uc010xgp.1_5'Flank|REEP6_uc002ltc.2_5'Flank	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	113					proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGACAGAGCGTTTCACCCG	0.692												
ZBTB7A	51341	broad.mit.edu	37	19	4048234	4048234	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:4048234T>G	uc002lzh.2	-	3	1346	c.1271A>C	c.(1270-1272)AAG>ACG	p.K424T	ZBTB7A_uc002lzi.2_Missense_Mutation_p.K424T	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	424	C2H2-type 2.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			pancreas(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTTCAGCTTGTCCTGCCT	0.687												
MAP2K2	5605	broad.mit.edu	37	19	4099311	4099311	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:4099311C>T	uc002lzk.2	-	7	1061	c.807G>A	c.(805-807)CCG>CCA	p.P269P	MAP2K2_uc002lzj.2_Silent_p.P79P	NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	269	Protein kinase.|Pro-rich.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCGTCGGGCGGGGGGATGG	0.687									Cardiofaciocutaneous_syndrome			
PLIN3	10226	broad.mit.edu	37	19	4844784	4844784	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:4844784C>T	uc002mbj.2	-	7	1033	c.856G>A	c.(856-858)GTT>ATT	p.V286I	PLIN3_uc002mbk.2_Missense_Mutation_p.V274I|PLIN3_uc002mbl.3_Missense_Mutation_p.V286I	NM_005817	NP_005808	O60664	PLIN3_HUMAN	mannose 6 phosphate receptor binding protein 1	286					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding				0					Galsulfase(DB01279)|Idursulfase(DB01271)	TTCTGATCAACGCCTTGCTTG	0.602												
PTPRS	5802	broad.mit.edu	37	19	5218436	5218436	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:5218436G>A	uc002mbv.2	-	25	4277	c.4043C>T	c.(4042-4044)ACT>ATT	p.T1348I	PTPRS_uc002mbu.1_Missense_Mutation_p.T917I|PTPRS_uc010xin.1_Missense_Mutation_p.T917I|PTPRS_uc002mbw.2_Missense_Mutation_p.T1326I|PTPRS_uc002mbx.2_Missense_Mutation_p.T921I|PTPRS_uc002mby.2_Missense_Mutation_p.T917I	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1348	Cytoplasmic (Potential).				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)		CATACCTGGAGTCTGGAAGTT	0.587												
TMEM146	257062	broad.mit.edu	37	19	5778593	5778593	+	Missense_Mutation	SNP	C	C	T	rs137867416	by1000genomes	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:5778593C>T	uc002mda.2	+	22	2364	c.2303C>T	c.(2302-2304)ACG>ATG	p.T768M		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	768	Cytoplasmic (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGATGCAAGACGGTCTGCCAG	0.657												
NDUFA11	126328	broad.mit.edu	37	19	5896923	5896923	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:5896923G>A	uc002mdq.1	-	2	489	c.183C>T	c.(181-183)TTC>TTT	p.F61F	FUT5_uc010duo.2_5'UTR|NDUFA11_uc002mdp.1_Silent_p.F61F|NDUFA11_uc002mdr.1_RNA	NM_175614	NP_783313	Q86Y39	NDUAB_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	61	Helical; (Potential).				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I	protein transporter activity			central_nervous_system(1)	1					NADH(DB00157)	CACCTGCAGTGAACGTGTATT	0.607												
PNPLA6	10908	broad.mit.edu	37	19	7619868	7619868	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:7619868C>T	uc010xjq.1	+	24	2949	c.2754C>T	c.(2752-2754)ACC>ACT	p.T918T	PNPLA6_uc002mgq.1_Silent_p.T870T|PNPLA6_uc010xjp.1_Silent_p.T843T|PNPLA6_uc002mgr.1_Silent_p.T870T|PNPLA6_uc002mgs.2_Silent_p.T908T|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	909	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						CCACGCGCACCGTGGAGTGGC	0.672												
XAB2	56949	broad.mit.edu	37	19	7688074	7688074	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:7688074G>A	uc002mgx.2	-	9	1247	c.1221C>T	c.(1219-1221)GAC>GAT	p.D407D		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	407	HAT 9.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GCTGTCCGTTGTCCTCATAAA	0.373								Direct_reversal_of_damage|NER				
LRRC8E	80131	broad.mit.edu	37	19	7960576	7960576	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:7960576T>C	uc002mir.2	+	2	189	c.88T>C	c.(88-90)TAC>CAC	p.Y30H		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	30	Helical; (Potential).					integral to membrane				lung(1)|pancreas(1)	2						GCTGGCCGAGTACCTCACCGT	0.637												
FBN3	84467	broad.mit.edu	37	19	8188452	8188452	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:8188452A>G	uc002mjf.2	-	23	2999	c.2978T>C	c.(2977-2979)TTC>TCC	p.F993S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	993	EGF-like 12; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GAGGCCAGGGAACACCTTGCA	0.597												
MYO1F	4542	broad.mit.edu	37	19	8609293	8609293	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:8609293G>A	uc002mkg.2	-	14	1526	c.1412C>T	c.(1411-1413)ACG>ATG	p.T471M		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	471	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						TCCCCCGCCCGTGGCGTGCAT	0.672												
MUC16	94025	broad.mit.edu	37	19	9057815	9057815	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:9057815A>G	uc002mkp.2	-	3	29835	c.29631T>C	c.(29629-29631)CCT>CCC	p.P9877P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9879	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCCTGAATCCAGGAGTCAATG	0.488												
ZNF317	57693	broad.mit.edu	37	19	9271302	9271302	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:9271302G>A	uc002mku.2	+	7	1256	c.981G>A	c.(979-981)ACG>ACA	p.T327T	ZNF317_uc002mkv.2_Silent_p.T186T|ZNF317_uc002mkw.2_Silent_p.T295T|ZNF317_uc002mkx.2_Silent_p.T242T|ZNF317_uc002mky.2_Silent_p.T210T	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	327	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACAAGAGAACGCACACCGGAG	0.582												
ZNF317	57693	broad.mit.edu	37	19	9271423	9271423	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:9271423G>A	uc002mku.2	+	7	1377	c.1102G>A	c.(1102-1104)GGC>AGC	p.G368S	ZNF317_uc002mkv.2_Missense_Mutation_p.G227S|ZNF317_uc002mkw.2_Missense_Mutation_p.G336S|ZNF317_uc002mkx.2_Missense_Mutation_p.G283S|ZNF317_uc002mky.2_Missense_Mutation_p.G251S	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	368	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACGCAGTGCGGCAAAGCCTT	0.537												
ANGPTL6	83854	broad.mit.edu	37	19	10204421	10204421	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:10204421T>A	uc002mmx.1	-	4	1017	c.899A>T	c.(898-900)CAG>CTG	p.Q300L	ANGPTL6_uc002mmy.1_Missense_Mutation_p.Q300L	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6 precursor	300	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)			TTGCCTCCGCTGGATCACAGT	0.577												
KEAP1	9817	broad.mit.edu	37	19	10599967	10599967	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:10599967A>G	uc002moq.1	-	5	1765	c.1609T>C	c.(1609-1611)TAC>CAC	p.Y537H	KEAP1_uc002mop.1_Intron|KEAP1_uc002mor.1_Missense_Mutation_p.Y537H	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	537	Kelch 5.				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)			TCCACATCGTAGCGCTCCACG	0.577												
ILF3	3609	broad.mit.edu	37	19	10781711	10781711	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:10781711A>G	uc002mpn.2	+	3	382	c.65A>G	c.(64-66)TAT>TGT	p.Y22C	ILF3_uc002mpm.2_Missense_Mutation_p.Y22C|ILF3_uc002mpl.2_Missense_Mutation_p.Y22C|ILF3_uc002mpk.2_Missense_Mutation_p.Y22C|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Missense_Mutation_p.Y22C	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	22					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TCTTCCGTTTATCCAACACAA	0.483												
QTRT1	81890	broad.mit.edu	37	19	10823521	10823521	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:10823521T>C	uc002mpr.2	+	8	974	c.949T>C	c.(949-951)TGC>CGC	p.C317R	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	317		Zinc (By similarity).			queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			skin(1)	1			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			AGACCCGGAGTGCACCTGCCC	0.647												
DOCK6	57572	broad.mit.edu	37	19	11363591	11363591	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:11363591A>G	uc002mqs.3	-	3	217	c.176T>C	c.(175-177)GTA>GCA	p.V59A		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	59					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						GCTCAGAAGTACATCCTCAAA	0.602												
ZNF442	79973	broad.mit.edu	37	19	12461809	12461809	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:12461809C>T	uc002mtr.1	-	6	1201	c.590G>A	c.(589-591)CGA>CAA	p.R197Q	ZNF442_uc010xmk.1_Missense_Mutation_p.R128Q	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	197	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4						TATGTGTCTTCGAAGGTTTCC	0.403												
ZNF799	90576	broad.mit.edu	37	19	12502011	12502011	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:12502011C>G	uc010dyt.2	-	4	1351	c.1201G>C	c.(1201-1203)GCC>CCC	p.A401P	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	401	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						TAAACAAAGGCTTTCCCACAT	0.428												
BEST2	54831	broad.mit.edu	37	19	12866252	12866252	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:12866252A>G	uc002mux.2	+	5	696	c.696A>G	c.(694-696)GTA>GTG	p.V232V		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	232					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						GGATTAGCGTACCCCTCGTGT	0.502												
PRDX2	7001	broad.mit.edu	37	19	12911784	12911784	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:12911784A>G	uc002mvd.2	-	3	353	c.203T>C	c.(202-204)CTG>CCG	p.L68P	PRDX2_uc002mve.1_Missense_Mutation_p.L68P	NM_005809	NP_005800	P32119	PRDX2_HUMAN	peroxiredoxin 2 isoform a	68	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity				0						TTCACAGCCCAGCTTGCGGAA	0.438												
CACNA1A	773	broad.mit.edu	37	19	13410047	13410047	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:13410047G>A	uc010dze.2	-	19	2639	c.2403C>T	c.(2401-2403)GAC>GAT	p.D801D	CACNA1A_uc010dzc.2_Silent_p.D326D|CACNA1A_uc002mwy.3_Silent_p.D800D|CACNA1A_uc010xne.1_Silent_p.D329D	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	801	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCAGCGCTCGTCCGGGTCCA	0.627												
EMR2	30817	broad.mit.edu	37	19	14883284	14883284	+	Silent	SNP	C	C	A	rs146183015	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:14883284C>A	uc002mzp.1	-	5	681	c.225G>T	c.(223-225)TCG>TCT	p.S75S	EMR2_uc010xnw.1_Silent_p.S75S|EMR2_uc002mzo.1_Silent_p.S75S|EMR2_uc002mzq.1_Silent_p.S75S|EMR2_uc002mzr.1_Silent_p.S75S|EMR2_uc002mzs.1_Silent_p.S75S|EMR2_uc002mzt.1_Silent_p.S75S|EMR2_uc002mzu.1_Silent_p.S75S|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	75	Extracellular (Potential).|EGF-like 2; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						ATGACACTTTCGACAGTGTTG	0.537												
AKAP8	10270	broad.mit.edu	37	19	15483910	15483910	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:15483910T>C	uc002nav.2	-	5	674	c.613A>G	c.(613-615)ATG>GTG	p.M205V	AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Missense_Mutation_p.M19V	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	205					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						TCGCTGCGCATGAAGGTGCCA	0.711												
CYP4F3	4051	broad.mit.edu	37	19	15770043	15770043	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:15770043C>A	uc002nbj.2	+	13	1461	c.1411C>A	c.(1411-1413)CAG>AAG	p.Q471K	CYP4F3_uc010xok.1_Missense_Mutation_p.Q471K|CYP4F3_uc010xol.1_Missense_Mutation_p.Q471K|CYP4F3_uc010xom.1_Missense_Mutation_p.Q322K|CYP4F3_uc002nbk.2_Missense_Mutation_p.Q471K|CYP4F3_uc010xon.1_Missense_Mutation_p.Q181K	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	471					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						CTGCATCGGGCAGGCGTTCGC	0.667												
CYP4F11	57834	broad.mit.edu	37	19	16025591	16025591	+	Silent	SNP	G	G	A	rs150098509	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:16025591G>A	uc002nbu.2	-	10	1266	c.1230C>T	c.(1228-1230)GAC>GAT	p.D410D	CYP4F11_uc010eab.1_Silent_p.D410D|CYP4F11_uc002nbt.2_Silent_p.D410D	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	410					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						TGACGCGGCCGTCTGGGAGCA	0.637												
SIN3B	23309	broad.mit.edu	37	19	16989392	16989392	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:16989392G>A	uc002ney.1	+	20	3357	c.3343G>A	c.(3343-3345)GCG>ACG	p.A1115T	SIN3B_uc002nez.1_Missense_Mutation_p.A1083T|SIN3B_uc010xpi.1_Missense_Mutation_p.A673T|SIN3B_uc010eaj.1_Missense_Mutation_p.A51T	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	1115					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						GACGGTGGAGGCGGCTAGCCT	0.647												
PIK3R2	5296	broad.mit.edu	37	19	18277087	18277087	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:18277087G>A	uc002nia.1	+	12	2046	c.1534G>A	c.(1534-1536)GAG>AAG	p.E512K	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	512					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						CTTCCGGCGTGAGGGCAACGA	0.473												
LRRC25	126364	broad.mit.edu	37	19	18507103	18507103	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:18507103C>A	uc002niw.2	-	1	1313	c.671G>T	c.(670-672)CGG>CTG	p.R224L	LRRC25_uc002nix.2_Missense_Mutation_p.R224L	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25 precursor	224	Cytoplasmic (Potential).					integral to membrane					0						GGGGGCGCTCCGGCTGCCGTA	0.657												
ELL	8178	broad.mit.edu	37	19	18561504	18561504	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:18561504C>T	uc002njh.2	-	8	1320	c.1248G>A	c.(1246-1248)GCG>GCA	p.A416A	ELL_uc010ebq.2_Silent_p.A359A|ELL_uc002njg.2_Silent_p.A283A	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	416					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		CTGGGGCAGCCGCCTCTCCGT	0.736			T	MLL	AL							
UBA52	7311	broad.mit.edu	37	19	18684198	18684198	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:18684198A>T	uc002njr.2	+	2	202	c.88A>T	c.(88-90)ATT>TTT	p.I30F	UBA52_uc002njs.2_Missense_Mutation_p.I30F|UBA52_uc002njt.2_Missense_Mutation_p.I30F	NM_001033930	NP_001029102	P62987	RL40_HUMAN	ubiquitin and ribosomal protein L40 precursor	30	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome				0						CAAAGCCAAAATTCAAGACAA	0.547												
ARMC6	93436	broad.mit.edu	37	19	19166111	19166111	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:19166111T>C	uc002nld.2	+	7	1409	c.1061T>C	c.(1060-1062)ATC>ACC	p.I354T	ARMC6_uc002nlc.2_Missense_Mutation_p.I329T|ARMC6_uc010xql.1_Missense_Mutation_p.I261T|ARMC6_uc002nle.2_Missense_Mutation_p.I329T|ARMC6_uc010xqm.1_Missense_Mutation_p.I354T	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	354	ARM 3.						protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CTGCGAGCCATCGCAGGCAAC	0.627												
ZNF506	440515	broad.mit.edu	37	19	19905493	19905493	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:19905493T>C	uc010eci.2	-	4	1351	c.1203A>G	c.(1201-1203)GAA>GAG	p.E401E	ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Silent_p.E369E	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	zinc finger protein 506 isoform 1	401	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding				0						CTTTGCCACATTCTTCACATT	0.358												
ZNF430	80264	broad.mit.edu	37	19	21203611	21203611	+	Splice_Site	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:21203611T>C	uc002npj.2	+	1	113	c.3_splice	c.e1+2	p.M1_splice	ZNF430_uc002npk.2_Splice_Site_p.M1_splice	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						CTAGAAATGGTGAGAGTGCCG	0.622												
ZNF429	353088	broad.mit.edu	37	19	21720712	21720712	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:21720712A>G	uc002nqd.1	+	4	1994	c.1857A>G	c.(1855-1857)AAA>AAG	p.K619K	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTAGAGAGAAACCTTACAAAT	0.318												
ZNF208	7757	broad.mit.edu	37	19	22154210	22154210	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:22154210G>A	uc002nqp.2	-	6	3391	c.3242C>T	c.(3241-3243)CCC>CTC	p.P1081L	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGGGTTGAGGGCCACTTATA	0.378												
ZNF208	7757	broad.mit.edu	37	19	22157496	22157496	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:22157496T>G	uc002nqp.2	-	4	489	c.340A>C	c.(340-342)AAA>CAA	p.K114Q	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAACCAATTTTTAAGTGTAAA	0.353												
WDR88	126248	broad.mit.edu	37	19	33663258	33663258	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:33663258G>T	uc002nui.2	+	10	1232	c.1154G>T	c.(1153-1155)AGG>ATG	p.R385M		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	385	WD 7.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					TTTTAGGATAGGACCATGAGA	0.264												
RBM42	79171	broad.mit.edu	37	19	36128416	36128416	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:36128416G>A	uc002oan.2	+	10	1479	c.1403G>A	c.(1402-1404)CGC>CAC	p.R468H	RBM42_uc010eef.2_Missense_Mutation_p.R414H|RBM42_uc002oao.2_Missense_Mutation_p.R446H|RBM42_uc002oap.2_Missense_Mutation_p.R438H|RBM42_uc002oaq.2_Missense_Mutation_p.R439H|RBM42_uc010eeg.2_Missense_Mutation_p.R374H	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	468	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GACGTGGTCCGCAAGAAGCAG	0.612												
APLP1	333	broad.mit.edu	37	19	36370291	36370291	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:36370291A>G	uc002oce.2	+	17	2039	c.1901A>G	c.(1900-1902)CAG>CGG	p.Q634R	APLP1_uc010xsz.1_Missense_Mutation_p.Q595R|APLP1_uc002ocf.2_Missense_Mutation_p.Q635R|APLP1_uc002ocg.2_Missense_Mutation_p.Q538R|APLP1_uc010xta.1_Missense_Mutation_p.Q628R	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	634	Cytoplasmic (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCGAACTGCAGCGGCACGGC	0.672												
HKR1	284459	broad.mit.edu	37	19	37853830	37853830	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:37853830C>T	uc002ogb.2	+	6	1402	c.1133C>T	c.(1132-1134)GCG>GTG	p.A378V	HKR1_uc002ofx.2_Missense_Mutation_p.A94V|HKR1_uc002ofy.2_Missense_Mutation_p.A94V|HKR1_uc002oga.2_Missense_Mutation_p.A360V|HKR1_uc010xto.1_Missense_Mutation_p.A360V|HKR1_uc002ogc.2_Missense_Mutation_p.A359V|HKR1_uc010xtp.1_Missense_Mutation_p.A317V|HKR1_uc002ogd.2_Missense_Mutation_p.A317V	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	378	C2H2-type 3.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACCAGAGGGCGCACACTGGG	0.527												
SIPA1L3	23094	broad.mit.edu	37	19	38590640	38590640	+	Silent	SNP	G	G	A	rs142598144		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:38590640G>A	uc002ohk.2	+	5	2213	c.1704G>A	c.(1702-1704)ACG>ACA	p.T568T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	568					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGATGCTACGCCCACAGCCA	0.607												
SIPA1L3	23094	broad.mit.edu	37	19	38621275	38621275	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:38621275G>A	uc002ohk.2	+	10	3515	c.3006G>A	c.(3004-3006)CGG>CGA	p.R1002R		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1002	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCGGCCTCCGGCAGGGCAGCC	0.652												
SIPA1L3	23094	broad.mit.edu	37	19	38692591	38692591	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:38692591A>G	uc002ohk.2	+	20	5583	c.5074A>G	c.(5074-5076)AGC>GGC	p.S1692G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1692					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGCCACCTGAGCCTGGAGAG	0.652												
ACTN4	81	broad.mit.edu	37	19	39207889	39207889	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:39207889C>T	uc002oja.1	+	10	1135	c.1076C>T	c.(1075-1077)ACG>ATG	p.T359M	ACTN4_uc010egc.1_Missense_Mutation_p.T359M	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	359	Spectrin 1.			TL -> SV (in Ref. 3; AAC17470).	platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AACTTCAACACGCTGCAGACC	0.617												
FCGBP	8857	broad.mit.edu	37	19	40366349	40366349	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:40366349C>T	uc002omp.3	-	30	13893	c.13885G>A	c.(13885-13887)GGG>AGG	p.G4629R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4629	VWFD 11.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGGGCTTCCCGCCCACAGCC	0.692												
FCGBP	8857	broad.mit.edu	37	19	40421304	40421304	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:40421304C>T	uc002omp.3	-	5	2625	c.2617G>A	c.(2617-2619)GTG>ATG	p.V873M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	873	VWFD 2.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGAAGCTCACATAGTGTGGG	0.692												
SPTBN4	57731	broad.mit.edu	37	19	41026037	41026037	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:41026037G>A	uc002ony.2	+	16	3719	c.3633G>A	c.(3631-3633)GCG>GCA	p.A1211A	SPTBN4_uc002onx.2_Silent_p.A1211A|SPTBN4_uc002onz.2_Silent_p.A1211A|SPTBN4_uc010egx.2_5'UTR	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1211	Spectrin 10.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TACGCCAGGCGCTCGTGGTGC	0.657												
AXL	558	broad.mit.edu	37	19	41726645	41726645	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:41726645C>T	uc010ehj.2	+	2	380	c.190C>T	c.(190-192)CCC>TCC	p.P64S	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.P64S|AXL_uc010ehk.2_Missense_Mutation_p.P64S	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	64	Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 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						TCAGGGAGAGCCCCCCGAGGT	0.622												
BCKDHA	593	broad.mit.edu	37	19	41920016	41920016	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:41920016C>T	uc002oqq.2	+	4	467	c.438C>T	c.(436-438)GCC>GCT	p.A146A	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Silent_p.A180A|BCKDHA_uc002oqp.1_Silent_p.A38A|BCKDHA_uc002oqr.2_Silent_p.A146A|BCKDHA_uc010xvz.1_Silent_p.A124A	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	146					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						GGAGTGCCGCCGCCCTGGACA	0.607												
ARHGEF1	9138	broad.mit.edu	37	19	42402713	42402713	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:42402713T>C	uc002orx.2	+	14	1353	c.1244T>C	c.(1243-1245)GTG>GCG	p.V415A	ARHGEF1_uc002ory.2_Missense_Mutation_p.V382A|ARHGEF1_uc002orz.2_Missense_Mutation_p.V253A|ARHGEF1_uc002osa.2_Missense_Mutation_p.V430A|ARHGEF1_uc002osb.2_Missense_Mutation_p.V397A|ARHGEF1_uc002osc.2_Missense_Mutation_p.V169A|ARHGEF1_uc002osd.2_Missense_Mutation_p.V74A	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	415					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AAGAGCCAGGTGAAGCGGCAG	0.652												
ZNF574	64763	broad.mit.edu	37	19	42584319	42584319	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:42584319C>T	uc002osm.3	+	2	1730	c.1561C>T	c.(1561-1563)CGG>TGG	p.R521W	ZNF574_uc002osk.3_Missense_Mutation_p.R611W	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				CACAGGGGAGCGGCCCTTCCC	0.617												
PSG2	5670	broad.mit.edu	37	19	43579581	43579581	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:43579581C>T	uc002ovr.2	-	3	727	c.634G>A	c.(634-636)GCA>ACA	p.A212T	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.A212T|PSG2_uc010eiq.1_Missense_Mutation_p.A212T|PSG2_uc002ovs.3_Missense_Mutation_p.A212T|PSG2_uc002ovt.3_Missense_Mutation_p.A212T	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	212	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				TAGGGTCCTGCAGTATACTTT	0.507												
TEX101	83639	broad.mit.edu	37	19	43922422	43922422	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:43922422C>T	uc010xwo.1	+	6	818	c.623C>T	c.(622-624)GCG>GTG	p.A208V	TEX101_uc002owk.2_Missense_Mutation_p.A226V	NM_001130011	NP_001123483	Q9BY14	TX101_HUMAN	testis expressed 101 isoform 2	208						anchored to membrane|plasma membrane				ovary(1)	1		Prostate(69;0.0199)				GTGAGGGAAGCGTGCCCACAT	0.532												
IRGC	56269	broad.mit.edu	37	19	44222940	44222940	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:44222940T>C	uc002oxh.2	+	2	377	c.230T>C	c.(229-231)CTG>CCG	p.L77P		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	77						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				CTGCGTGGCCTGGAGGCCGAG	0.682												
ZNF226	7769	broad.mit.edu	37	19	44676323	44676323	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:44676323A>G	uc002oyp.2	+	4	242	c.98A>G	c.(97-99)TAC>TGC	p.Y33C	ZNF226_uc002oyn.2_Missense_Mutation_p.Y33C|ZNF226_uc002oyo.2_Missense_Mutation_p.Y33C|ZNF226_uc002oyq.2_5'UTR|ZNF226_uc002oyr.2_5'UTR|ZNF226_uc010ejg.2_Missense_Mutation_p.Y33C|ZNF226_uc002oys.2_Missense_Mutation_p.Y33C|ZNF226_uc002oyt.2_Missense_Mutation_p.Y33C	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AGGAAGCTGTACCGAGATGTG	0.532												
CBLC	23624	broad.mit.edu	37	19	45296747	45296747	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:45296747C>T	uc002ozs.2	+	8	1217	c.1154C>T	c.(1153-1155)ACC>ATC	p.T385I	CBLC_uc010ejt.2_Missense_Mutation_p.T339I	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Cas-Br-M (murine) ecotropic retroviral	385	RING-type.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|skin(1)	6	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GACAGCCAGACCTGCCCCTTC	0.637			M		AML							
RELB	5971	broad.mit.edu	37	19	45515448	45515448	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:45515448T>C	uc002paj.1	+	5	544	c.418T>C	c.(418-420)TTC>CTC	p.F140L		NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	140	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CGGCATGCGCTTCCGCTACGA	0.741												
RELB	5971	broad.mit.edu	37	19	45528941	45528941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:45528941C>T	uc002paj.1	+	8	958	c.832C>T	c.(832-834)CAG>TAG	p.Q278*		NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	278	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TCGGGACCAGCAGGGACAGAT	0.572												
NKPD1	284353	broad.mit.edu	37	19	45655847	45655847	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:45655847G>A	uc010xxi.1	-	4	1848	c.1848C>T	c.(1846-1848)CCC>CCT	p.P616P		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CCACGTTGTCGGGCACGTACT	0.692												
FOSB	2354	broad.mit.edu	37	19	45973963	45973963	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:45973963A>G	uc002pbx.3	+	2	795	c.203A>G	c.(202-204)CAG>CGG	p.Q68R	ERCC1_uc002pbu.1_Intron|FOSB_uc002pbw.2_Missense_Mutation_p.Q68R|FOSB_uc010eke.2_Intron|FOSB_uc002pby.3_Missense_Mutation_p.Q68R|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Missense_Mutation_p.Q68R|FOSB_uc010ekc.1_Intron|FOSB_uc010ekf.2_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.Q68R|FOSB_uc010ekg.2_Intron|FOSB_uc002pca.3_Missense_Mutation_p.Q19R	NM_006732	NP_006723	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	68					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|lung(1)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CAGGACCTCCAGTGGCTTGTG	0.627												
PPP5C	5536	broad.mit.edu	37	19	46890442	46890442	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:46890442G>A	uc002pem.2	+	8	1057	c.997G>A	c.(997-999)GAG>AAG	p.E333K	PPP5C_uc010xya.1_Missense_Mutation_p.E200K|PPP5C_uc002pen.2_Missense_Mutation_p.E311K|PPP5C_uc010xyb.1_Missense_Mutation_p.E191K	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	333	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GCTCTTTAGCGAGGTGTTCGA	0.592												
C5AR1	728	broad.mit.edu	37	19	47823944	47823944	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:47823944G>A	uc002pgj.1	+	2	959	c.910G>A	c.(910-912)GGC>AGC	p.G304S		NM_001736	NP_001727	P21730	C5AR_HUMAN	complement component 5 receptor 1	304	Cytoplasmic (Potential).				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CGTGGTGGCCGGCCAGGGCTT	0.587												
SULT2A1	6822	broad.mit.edu	37	19	48385411	48385411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:48385411C>T	uc002phr.2	-	3	542	c.402G>A	c.(400-402)TGG>TGA	p.W134*		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	bile-salt sulfotransferase 2A1	134					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			ovary(1)|pancreas(1)	2		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TCATGTTTTTCCAGAAAAAAT	0.343												
RUVBL2	10856	broad.mit.edu	37	19	49513257	49513257	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:49513257G>A	uc002plr.1	+	8	610	c.597G>A	c.(595-597)ACG>ACA	p.T199T	RUVBL2_uc002plq.1_Silent_p.T154T|RUVBL2_uc010yab.1_Silent_p.T199T|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Silent_p.T154T|RUVBL2_uc010yac.1_Silent_p.T154T	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	199					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		ACAAGGCGACGGGCAAGATCT	0.677												
HRC	3270	broad.mit.edu	37	19	49658190	49658190	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:49658190A>G	uc002pmv.2	-	1	492	c.305T>C	c.(304-306)CTA>CCA	p.L102P	TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	102					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(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;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GCCTGGGAGTAGGTGCCCATA	0.547												
RRAS	6237	broad.mit.edu	37	19	50140109	50140109	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:50140109G>A	uc002pop.1	-	3	361	c.316C>T	c.(316-318)CTG>TTG	p.L106L		NM_006270	NP_006261	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	106					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GCGAACACCAGCAGGAAGCCG	0.657												
SCAF1	58506	broad.mit.edu	37	19	50156621	50156621	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:50156621C>T	uc002poq.2	+	7	3099	c.2975C>T	c.(2974-2976)TCG>TTG	p.S992L		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	992					mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		ACTCCGGACTCGCAGACCGTG	0.657												
NR1H2	7376	broad.mit.edu	37	19	50881507	50881507	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:50881507T>C	uc010enw.2	+	5	559	c.283T>C	c.(283-285)TCC>CCC	p.S95P	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.S95P|NR1H2_uc002psa.3_Intron	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	95	Nuclear receptor.|NR C4-type.				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGACAAGGCCTCCGGCTTCCA	0.652												
KLK10	5655	broad.mit.edu	37	19	51520527	51520527	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:51520527G>T	uc002puy.2	-	3	189	c.108C>A	c.(106-108)CTC>CTA	p.L36L	KLK10_uc002puz.2_Silent_p.L36L|KLK10_uc002pva.2_Silent_p.L36L	NM_145888	NP_665895	O43240	KLK10_HUMAN	kallikrein-related peptidase 10 preproprotein	36					cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			lung(2)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CGTTTTGGGGGAGCAGCGCCG	0.667											OREG0025646	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ETFB	2109	broad.mit.edu	37	19	51853588	51853588	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:51853588G>A	uc002pwh.2	-	4	525	c.433C>T	c.(433-435)CCA>TCA	p.P145S	ETFB_uc002pwg.2_Missense_Mutation_p.P236S	NM_001985	NP_001976	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	145					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		CTCACCTGTGGCCAGTCAAGA	0.274												
MBOAT7	79143	broad.mit.edu	37	19	54677780	54677780	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:54677780G>A	uc002qdq.2	-	9	1643	c.1377C>T	c.(1375-1377)TCC>TCT	p.S459S	TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Silent_p.S143S|MBOAT7_uc010yem.1_Silent_p.S441S|MBOAT7_uc002qdr.2_Silent_p.S459S|MBOAT7_uc002qds.2_Silent_p.S386S|MBOAT7_uc010yen.1_Silent_p.S386S	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain	459					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGTGGGCTGGGATGCTGCCT	0.662												
LENG8	114823	broad.mit.edu	37	19	54967856	54967856	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:54967856C>T	uc002qfv.1	+	10	1520	c.1376C>T	c.(1375-1377)GCG>GTG	p.A459V	LENG8_uc002qfw.2_Missense_Mutation_p.A496V			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	459							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AAGAAGATGGCGGCGCTGGAG	0.682												
LILRB1	10859	broad.mit.edu	37	19	55148284	55148284	+	Silent	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:55148284C>A	uc002qgj.2	+	16	2248	c.1908C>A	c.(1906-1908)CCC>CCA	p.P636P	LILRB1_uc002qgl.2_Silent_p.P637P|LILRB1_uc002qgk.2_Silent_p.P637P|LILRB1_uc002qgm.2_Silent_p.P638P|LILRB1_uc010erq.2_Silent_p.P620P|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	636	Cytoplasmic (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		AGGAAGGGCCCTCTCCAGCTG	0.637										HNSCC(37;0.09)		
NLRP2	55655	broad.mit.edu	37	19	55508826	55508826	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:55508826A>G	uc002qij.2	+	12	3107	c.3021A>G	c.(3019-3021)ACA>ACG	p.T1007T	NLRP2_uc010yfp.1_Silent_p.T984T|NLRP2_uc010esn.2_Silent_p.T983T|NLRP2_uc010eso.2_Silent_p.T1004T|NLRP2_uc010esp.2_Silent_p.T985T	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1007					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AAACCTTGACATGTTCCAGTG	0.522												
ZNF628	89887	broad.mit.edu	37	19	55993117	55993117	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:55993117C>T	uc002qld.2	+	3	1110	c.545C>T	c.(544-546)ACG>ATG	p.T182M		NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	182	C2H2-type 6.					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)		AAGAGCTTCACGCAGAGCACC	0.687												
ZNF628	89887	broad.mit.edu	37	19	55994462	55994462	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:55994462C>T	uc002qld.2	+	3	2455	c.1890C>T	c.(1888-1890)GCC>GCT	p.A630A	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	630	C2H2-type 16.					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)		TCGTTATGGCCGCCTATCTGC	0.711												
NLRP9	338321	broad.mit.edu	37	19	56249537	56249537	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:56249537T>C	uc002qly.2	-	1	232	c.204A>G	c.(202-204)GCA>GCG	p.A68A		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	68	DAPIN.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTACCTCCCATGCCTGCTTTC	0.478												
PEG3	5178	broad.mit.edu	37	19	57327277	57327277	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:57327277T>C	uc002qnu.2	-	7	2884	c.2533A>G	c.(2533-2535)AGA>GGA	p.R845G	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.R816G|PEG3_uc002qnv.2_Missense_Mutation_p.R845G|PEG3_uc002qnw.2_Missense_Mutation_p.R721G|PEG3_uc002qnx.2_Missense_Mutation_p.R719G|PEG3_uc010etr.2_Missense_Mutation_p.R845G	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	845					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)		TTGTGACTTCTTGGAGGTTTG	0.438												
PXDN	7837	broad.mit.edu	37	2	1652625	1652625	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:1652625T>C	uc002qxa.2	-	17	2991	c.2927A>G	c.(2926-2928)CAC>CGC	p.H976R		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	976					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTGGCGCGGTGGTCCCCGGC	0.697												
PXDN	7837	broad.mit.edu	37	2	1670163	1670163	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:1670163G>A	uc002qxa.2	-	10	1178	c.1114C>T	c.(1114-1116)CGG>TGG	p.R372W	PXDN_uc002qxb.1_Missense_Mutation_p.R372W|PXDN_uc002qxc.1_Missense_Mutation_p.R189W	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	372	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGGAGATCCGCGGCGGGGGG	0.617												
ADI1	55256	broad.mit.edu	37	2	3502771	3502771	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:3502771C>T	uc002qxp.3	-	4	595	c.503G>A	c.(502-504)CGC>CAC	p.R168H	ADI1_uc010yiq.1_RNA	NM_018269	NP_060739	Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	168					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		GTACTGCCCGCGGGCTTCAAA	0.542												
HPCAL1	3241	broad.mit.edu	37	2	10560261	10560261	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:10560261G>T	uc002raj.2	+	3	752	c.378G>T	c.(376-378)CAG>CAT	p.Q126H	HPCAL1_uc002rak.2_Missense_Mutation_p.Q126H|HPCAL1_uc002ral.2_Missense_Mutation_p.Q126H|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.Q126H	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	126	EF-hand 3.						calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		AGATCGTGCAGGTACCGGCGC	0.612												
KCNF1	3754	broad.mit.edu	37	2	11053150	11053150	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:11053150T>C	uc002rax.2	+	1	1088	c.598T>C	c.(598-600)TGC>CGC	p.C200R		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	200	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CGTGGTCATGTGCATGGGCAC	0.667												
KCNF1	3754	broad.mit.edu	37	2	11053256	11053256	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:11053256T>C	uc002rax.2	+	1	1194	c.704T>C	c.(703-705)CTG>CCG	p.L235P		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	235	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TGGTTCACCCTGGAGTACCTG	0.632												
SMC6	79677	broad.mit.edu	37	2	17896308	17896308	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:17896308G>A	uc002rco.2	-	16	1846	c.1550C>T	c.(1549-1551)CCA>CTA	p.P517L	SMC6_uc010exo.2_Missense_Mutation_p.P517L|SMC6_uc002rcn.2_Missense_Mutation_p.P517L|SMC6_uc002rcp.1_Missense_Mutation_p.P543L|SMC6_uc002rcq.2_Missense_Mutation_p.P543L	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	517	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCAAGTTCTGGGTCCCGAAG	0.383												
KCNK3	3777	broad.mit.edu	37	2	26950859	26950859	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:26950859G>A	uc002rhn.2	+	2	771	c.608G>A	c.(607-609)GGC>GAC	p.G203D		NM_002246	NP_002237	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	203					synaptic transmission	integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCGGCTTCGGCGACTACGTG	0.627												
CAD	790	broad.mit.edu	37	2	27458431	27458431	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:27458431C>T	uc002rji.2	+	25	4159	c.3997C>T	c.(3997-3999)CGG>TGG	p.R1333W	CAD_uc010eyw.2_Missense_Mutation_p.R1270W	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1333	CPSase B.|CPSase (Carbamoyl-phosphate synthase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCCAACTGTGCGGCTACTGGA	0.537												
GTF3C2	2976	broad.mit.edu	37	2	27558811	27558811	+	Silent	SNP	T	T	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:27558811T>A	uc002rjv.1	-	10	1803	c.1440A>T	c.(1438-1440)GCA>GCT	p.A480A	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Silent_p.A491A|GTF3C2_uc002rjw.1_Silent_p.A480A|GTF3C2_uc010eyz.1_Silent_p.A480A|uc002rjy.1_Intron	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	480	WD 1.					transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGTTCCCATGCTCCACTGG	0.562												
CRIM1	51232	broad.mit.edu	37	2	36583582	36583582	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:36583582G>A	uc002rpd.2	+	1	186	c.147G>A	c.(145-147)AGG>AGA	p.R49R		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	49	IGFBP N-terminal.|Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGGAGCCCAGGAACTGCCCGG	0.692												
VIT	5212	broad.mit.edu	37	2	36970398	36970398	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:36970398A>C	uc002rpl.2	+	4	495	c.274A>C	c.(274-276)AGT>CGT	p.S92R	VIT_uc002rpk.2_Missense_Mutation_p.S85R|VIT_uc010ynf.1_Missense_Mutation_p.S85R|VIT_uc002rpm.2_Missense_Mutation_p.S85R|VIT_uc010ezv.2_Missense_Mutation_p.S85R|VIT_uc010ezw.2_Missense_Mutation_p.S85R	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	92	LCCL.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				TGCCGTACACAGGTGAGTGGT	0.468												
PRKD3	23683	broad.mit.edu	37	2	37516634	37516634	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:37516634T>C	uc002rqd.2	-	4	1137	c.582A>G	c.(580-582)AAA>AAG	p.K194K	PRKD3_uc002rqf.1_Silent_p.K194K	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	194	Phorbol-ester/DAG-type 1.				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)				AGGCACATCGTTTATGGTAAT	0.338												
ATL2	64225	broad.mit.edu	37	2	38525369	38525369	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:38525369T>C	uc002rqq.2	-	12	1579	c.1549A>G	c.(1549-1551)ACT>GCT	p.T517A	ATL2_uc010ynm.1_Missense_Mutation_p.T499A|ATL2_uc010ynn.1_Missense_Mutation_p.T499A|ATL2_uc010yno.1_Missense_Mutation_p.T346A|ATL2_uc002rqs.2_Missense_Mutation_p.T517A|ATL2_uc002rqr.2_Missense_Mutation_p.T346A	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	517	Helical; (Potential).				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3						TATGCCCAAGTACAAAGAAAT	0.393												
PKDCC	91461	broad.mit.edu	37	2	42280472	42280472	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:42280472C>T	uc002rsg.2	+	2	912	c.733C>T	c.(733-735)CTG>TTG	p.L245L		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	protein kinase-like protein SgK493	245	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(1)	1						GATCCAGCTGCTGCAAACTTC	0.607												
PLEKHH2	130271	broad.mit.edu	37	2	43970051	43970051	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:43970051A>G	uc010yny.1	+	22	3476	c.3393A>G	c.(3391-3393)ATA>ATG	p.I1131M		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1131	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAATGGGATATACCAGGTAG	0.413												
SIX3	6496	broad.mit.edu	37	2	45169340	45169340	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:45169340G>A	uc002run.1	+	1	304	c.97G>A	c.(97-99)GGC>AGC	p.G33S		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	33	Poly-Gly.				visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGCGAGTAgcggcggcgggaa	0.264												
FBXO11	80204	broad.mit.edu	37	2	48035303	48035303	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:48035303T>C	uc010fbl.2	-	23	2600	c.2486A>G	c.(2485-2487)TAT>TGT	p.Y829C	FBXO11_uc002rwe.2_Missense_Mutation_p.Y829C|FBXO11_uc010fbk.2_Missense_Mutation_p.Y337C	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	913					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCAGAGTCATATAGTGTATC	0.383												
NRXN1	9378	broad.mit.edu	37	2	50280668	50280668	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:50280668C>T	uc010fbp.2	-	4	1481	c.674G>A	c.(673-675)GGC>GAC	p.G225D	NRXN1_uc002rxb.3_Missense_Mutation_p.G962D|NRXN1_uc010fbq.2_Missense_Mutation_p.G1330D|NRXN1_uc002rxe.3_Missense_Mutation_p.G1260D	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	225	Extracellular (Potential).|Laminin G-like.				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)			GAAGGGCTGGCCCTGCTCTTT	0.453												
NRXN1	9378	broad.mit.edu	37	2	51255157	51255157	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:51255157G>A	uc010fbq.2	-	2	1732	c.255C>T	c.(253-255)CGC>CGT	p.R85R	NRXN1_uc002rxe.3_Silent_p.R85R|NRXN1_uc002rxd.1_Silent_p.R85R	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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)			GGCGGCCGCCGCGCGTCAGAA	0.667												
RTN4	57142	broad.mit.edu	37	2	55252719	55252719	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:55252719A>G	uc002rye.2	-	3	2814	c.2516T>C	c.(2515-2517)GTT>GCT	p.V839A	RTN4_uc002ryd.2_Missense_Mutation_p.V633A|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	839	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						ATTTGAATAAACTGCAGTACT	0.343												
PAPOLG	64895	broad.mit.edu	37	2	60983631	60983631	+	Splice_Site	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:60983631G>A	uc002sai.2	+	1	248	c.17_splice	c.e1+1	p.A6_splice	PAPOLG_uc002saj.2_Intron	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma						mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AGATGTCTGCGTAAGTGGTGG	0.597												
CCT4	10575	broad.mit.edu	37	2	62110669	62110669	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:62110669T>C	uc002sbo.2	-	3	344	c.195A>G	c.(193-195)AAA>AAG	p.K65K	CCT4_uc010ypp.1_Silent_p.K9K|CCT4_uc010ypq.1_5'UTR|CCT4_uc010ypr.1_Silent_p.K9K|CCT4_uc010yps.1_Intron	NM_006430	NP_006421	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	65					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			ovary(2)	2	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TTACATCACCTTTTCCATCTT	0.289												
AFTPH	54812	broad.mit.edu	37	2	64779519	64779519	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:64779519T>C	uc002sdc.2	+	1	943	c.911T>C	c.(910-912)ATA>ACA	p.I304T	AFTPH_uc002scz.2_Missense_Mutation_p.I304T|AFTPH_uc002sda.2_Missense_Mutation_p.I304T|AFTPH_uc002sdb.2_Missense_Mutation_p.I304T	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	304					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2						GAAATAAGCATAGTGACTAAC	0.403												
C2orf78	388960	broad.mit.edu	37	2	74043234	74043234	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:74043234G>A	uc002sjr.1	+	3	2005	c.1884G>A	c.(1882-1884)ATG>ATA	p.M628I		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	628										ovary(2)	2						CCCTAGGCATGCACATGCTAG	0.463												
CTNNA2	1496	broad.mit.edu	37	2	80136836	80136836	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:80136836G>A	uc010ysh.1	+	6	974	c.969G>A	c.(967-969)ACG>ACA	p.T323T	CTNNA2_uc010yse.1_Silent_p.T323T|CTNNA2_uc010ysf.1_Silent_p.T323T|CTNNA2_uc010ysg.1_Silent_p.T323T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	323					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						CCTCCTGCACGCGAGACGACC	0.647												
LRRTM1	347730	broad.mit.edu	37	2	80529715	80529715	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:80529715G>A	uc002sok.1	-	2	1500	c.1230C>T	c.(1228-1230)ACC>ACT	p.T410T	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	410	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GAAGAGCCACGGTGGCAGGCT	0.687										HNSCC(69;0.2)		
TGOLN2	10618	broad.mit.edu	37	2	85554313	85554313	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:85554313T>C	uc010fgd.1	-	2	831	c.542A>G	c.(541-543)AAG>AGG	p.K181R	TGOLN2_uc002soz.2_Missense_Mutation_p.K181R|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Missense_Mutation_p.K181R|TGOLN2_uc002spc.1_Missense_Mutation_p.K181R	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	181	Extracellular (Potential).|10.|14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0						CGCACCCGACTTATTAGGGAC	0.587												
MAT2A	4144	broad.mit.edu	37	2	85769744	85769744	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:85769744T>C	uc002spr.2	+	7	948	c.825T>C	c.(823-825)GGT>GGC	p.G275G	MAT2A_uc010ysr.1_Silent_p.G275G|MAT2A_uc010fgk.2_Silent_p.G249G|MAT2A_uc010fgl.2_Silent_p.G212G	NM_005911	NP_005902	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	275					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCGGTTGGGGTGCTCATGGAG	0.473												
CNNM4	26504	broad.mit.edu	37	2	97474358	97474358	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:97474358G>A	uc002swx.2	+	6	2107	c.2009G>A	c.(2008-2010)CGC>CAC	p.R670H	CNNM4_uc010yuy.1_Missense_Mutation_p.R157H	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	670					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						TACCCAGACCGCACAGACGTC	0.617												
TMEM131	23505	broad.mit.edu	37	2	98411544	98411544	+	Missense_Mutation	SNP	G	G	A	rs61753932		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:98411544G>A	uc002syh.3	-	29	3464	c.3235C>T	c.(3235-3237)CGG>TGG	p.R1079W		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1079						integral to membrane				ovary(4)|central_nervous_system(2)	6						TTCAGTTCCCGAATAACTCTA	0.368												
EIF5B	9669	broad.mit.edu	37	2	100006804	100006804	+	Silent	SNP	T	T	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:100006804T>G	uc002tab.2	+	16	2710	c.2526T>G	c.(2524-2526)ACT>ACG	p.T842T		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	842					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						TAGAGTTAACTCAGACCATGT	0.408												
RANBP2	5903	broad.mit.edu	37	2	109374884	109374884	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:109374884T>C	uc002tem.3	+	18	2608	c.2482T>C	c.(2482-2484)TTG>CTG	p.L828L		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	828					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						AATGCAGGAGTTGAAACTAAA	0.358												
PSD4	23550	broad.mit.edu	37	2	113942987	113942987	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:113942987C>T	uc002tjc.2	+	4	1402	c.1219C>T	c.(1219-1221)CCC>TCC	p.P407S	PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Missense_Mutation_p.P406S|PSD4_uc002tjf.2_5'UTR	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	407					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						TCCTTTTTGGCCCCAGGTGAC	0.517												
TSN	7247	broad.mit.edu	37	2	122520638	122520638	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:122520638T>C	uc002tnl.2	+	5	666	c.431T>C	c.(430-432)GTT>GCT	p.V144A	TSN_uc002tnm.2_Missense_Mutation_p.V97A|TSN_uc010yze.1_Intron|TSN_uc010flt.2_RNA	NM_004622	NP_004613	Q15631	TSN_HUMAN	translin	144					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			breast(2)|large_intestine(1)	3		Ovarian(717;0.0563)|Prostate(154;0.116)				CTCTCAGGAGTTCTAATTCTT	0.343												
LIMS2	55679	broad.mit.edu	37	2	128399701	128399701	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:128399701C>T	uc002tpa.2	-	6	749	c.583G>A	c.(583-585)GTC>ATC	p.V195I	LIMS2_uc002tou.2_Missense_Mutation_p.V3I|LIMS2_uc002tov.2_Missense_Mutation_p.V43I|LIMS2_uc002tow.2_Missense_Mutation_p.V43I|LIMS2_uc002tox.2_Missense_Mutation_p.V219I|LIMS2_uc010fmb.2_Missense_Mutation_p.V105I|LIMS2_uc002toy.2_Missense_Mutation_p.V190I|LIMS2_uc010yzm.1_Missense_Mutation_p.V217I|LIMS2_uc002toz.2_Missense_Mutation_p.V190I|LIMS2_uc002tpb.2_Missense_Mutation_p.V190I	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	195	LIM zinc-binding 3.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CAGATGGGGACGCCCATCTTG	0.682												
YSK4	80122	broad.mit.edu	37	2	135738675	135738675	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:135738675G>T	uc002tue.1	-	9	3667	c.3636C>A	c.(3634-3636)GCC>GCA	p.A1212A	YSK4_uc002tuf.1_Silent_p.A394A|YSK4_uc010fnc.1_Silent_p.A346A|YSK4_uc010fnd.1_Silent_p.A1099A|YSK4_uc010zbg.1_Silent_p.A344A|YSK4_uc002tuh.3_Silent_p.A940A|YSK4_uc002tui.3_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	1212	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		AACCTGCCCAGGCCAAACGCC	0.468												
NR4A2	4929	broad.mit.edu	37	2	157185013	157185013	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:157185013A>G	uc002tyz.3	-	4	1319	c.897T>C	c.(895-897)TGT>TGC	p.C299C	NR4A2_uc002tyx.3_Silent_p.C236C|NR4A2_uc010zcf.1_Silent_p.C299C|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	299	NR C4-type.|Nuclear receptor.				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						TATTTGCTAAACACACGTATT	0.428												
GALNT5	11227	broad.mit.edu	37	2	158115854	158115854	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:158115854G>A	uc002tzg.2	+	1	1515	c.1260G>A	c.(1258-1260)ACG>ACA	p.T420T	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	420	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						ACAGTGGAACGCACCAGGTGT	0.493												
TANC1	85461	broad.mit.edu	37	2	160027265	160027265	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:160027265G>A	uc002uag.2	+	10	1574	c.1300G>A	c.(1300-1302)GGA>AGA	p.G434R	TANC1_uc010fol.1_Missense_Mutation_p.G328R|TANC1_uc010zcm.1_Missense_Mutation_p.G426R|TANC1_uc010fom.1_Missense_Mutation_p.G240R	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	434						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GAGCTGCCACGGAAGCCGCAT	0.483												
WDSUB1	151525	broad.mit.edu	37	2	160139475	160139475	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:160139475G>T	uc002uaj.3	-	2	255	c.106C>A	c.(106-108)CTG>ATG	p.L36M	WDSUB1_uc002uak.3_Missense_Mutation_p.L36M|WDSUB1_uc002ual.3_Missense_Mutation_p.L36M|WDSUB1_uc002uam.3_Missense_Mutation_p.L36M|WDSUB1_uc010foo.2_Missense_Mutation_p.L36M	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain	36	WD 1.					ubiquitin ligase complex	ubiquitin-protein ligase activity				0						AACGAGTACAGGCGAATTGTT	0.448												
BAZ2B	29994	broad.mit.edu	37	2	160243034	160243034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:160243034G>A	uc002uao.2	-	22	3653	c.3301C>T	c.(3301-3303)CGA>TGA	p.R1101*	BAZ2B_uc002uap.2_Nonsense_Mutation_p.R1065*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1101	DDT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CCAAAGTTTCGTAAGAACTGC	0.408												
LY75	4065	broad.mit.edu	37	2	160714970	160714970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:160714970C>T	uc002ubc.3	-	16	2355	c.2286G>A	c.(2284-2286)TGG>TGA	p.W762*	LY75_uc002ubb.3_Nonsense_Mutation_p.W762*|LY75_uc010fos.2_Nonsense_Mutation_p.W762*	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	762	Extracellular (Potential).|C-type lectin 4.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		AGCCTCTTCGCCATGGCCTAT	0.363												
ITGB6	3694	broad.mit.edu	37	2	160993972	160993972	+	Missense_Mutation	SNP	C	C	T	rs144967638		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:160993972C>T	uc002ubh.2	-	10	1649	c.1633G>A	c.(1633-1635)GTG>ATG	p.V545M	ITGB6_uc010fou.2_Missense_Mutation_p.V545M|ITGB6_uc010zcq.1_Missense_Mutation_p.V503M|ITGB6_uc010fov.1_Missense_Mutation_p.V545M	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	545	Extracellular (Potential).|III.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						TTGTGTCTCACGCAGGAGAAA	0.483												
SLC4A10	57282	broad.mit.edu	37	2	162751204	162751204	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:162751204G>T	uc002ubx.3	+	11	1394	c.1210G>T	c.(1210-1212)GCC>TCC	p.A404S	SLC4A10_uc010fpa.1_Missense_Mutation_p.A416S|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.A374S|SLC4A10_uc010zcs.1_Missense_Mutation_p.A385S	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	404	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						TCATGATGTTGCCTATAAAGC	0.313												
SCN7A	6332	broad.mit.edu	37	2	167288839	167288839	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:167288839C>A	uc002udu.1	-	15	2708	c.2581G>T	c.(2581-2583)GGC>TGC	p.G861C	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	861					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						TCTTTGCTGCCTCCATCACCA	0.403												
PPIG	9360	broad.mit.edu	37	2	170493131	170493131	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:170493131A>G	uc002uez.2	+	14	1583	c.1363A>G	c.(1363-1365)AGG>GGG	p.R455G	PPIG_uc010fpx.2_Missense_Mutation_p.R440G|PPIG_uc010fpy.2_Missense_Mutation_p.R448G|PPIG_uc002ufb.2_Missense_Mutation_p.R455G|PPIG_uc002ufd.2_Missense_Mutation_p.R452G	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	455					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	AGTGAAGAAAAGGGCCAAATC	0.318												
MYO3B	140469	broad.mit.edu	37	2	171258116	171258116	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:171258116G>A	uc002ufy.2	+	18	2187	c.2044G>A	c.(2044-2046)GCC>ACC	p.A682T	MYO3B_uc002ufv.2_Missense_Mutation_p.A669T|MYO3B_uc010fqb.1_Missense_Mutation_p.A669T|MYO3B_uc002ufz.2_Missense_Mutation_p.A682T|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	682	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						CGTTCGAGACGCCATGTCCAA	0.567												
GAD1	2571	broad.mit.edu	37	2	171700573	171700573	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:171700573A>G	uc002ugi.2	+	7	1079	c.657A>G	c.(655-657)GCA>GCG	p.A219A		NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	219					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATGAAATTGCACCAGTGTTTG	0.368												
DLX2	1746	broad.mit.edu	37	2	172965365	172965365	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:172965365G>A	uc002uhn.2	-	3	1105	c.893C>T	c.(892-894)CCG>CTG	p.P298L		NM_004405	NP_004396	Q07687	DLX2_HUMAN	distal-less homeobox 2	298						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTGCAGCAGCGGCGCCGTGGC	0.706												
TTN	7273	broad.mit.edu	37	2	179398999	179398999	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:179398999C>A	uc010zfg.1	-	307	94863	c.94639G>T	c.(94639-94641)GGT>TGT	p.G31547C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G25242C|TTN_uc010zfi.1_Missense_Mutation_p.G25175C|TTN_uc010zfj.1_Missense_Mutation_p.G25050C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32474							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)			CGAATTGCACCACCACAGGAG	0.453												
TTN	7273	broad.mit.edu	37	2	179422693	179422693	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:179422693T>C	uc010zfg.1	-	277	79908	c.79684A>G	c.(79684-79686)ATT>GTT	p.I26562V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I20257V|TTN_uc010zfi.1_Missense_Mutation_p.I20190V|TTN_uc010zfj.1_Missense_Mutation_p.I20065V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27489							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)			ACAATGTTAATGAAAGCTTTG	0.448												
TTN	7273	broad.mit.edu	37	2	179424438	179424438	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:179424438A>G	uc010zfg.1	-	275	78941	c.78717T>C	c.(78715-78717)CGT>CGC	p.R26239R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R19934R|TTN_uc010zfi.1_Silent_p.R19867R|TTN_uc010zfj.1_Silent_p.R19742R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27166							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)			TCAGTGATGTACGAGAGTCTG	0.438												
TTN	7273	broad.mit.edu	37	2	179569069	179569069	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:179569069A>G	uc010zfg.1	-	103	26520	c.26296T>C	c.(26296-26298)TGC>CGC	p.C8766R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.C5427R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9693							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)			GAAAATTGGCATGTCATGGTG	0.418												
SESTD1	91404	broad.mit.edu	37	2	180008501	180008501	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:180008501G>A	uc002uni.3	-	9	817	c.667C>T	c.(667-669)CGT>TGT	p.R223C		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	223					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTAAATCGACGCTGCTGTAAT	0.373												
NEUROD1	4760	broad.mit.edu	37	2	182543540	182543540	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:182543540G>T	uc002uof.2	-	2	284	c.48C>A	c.(46-48)CCC>CCA	p.P16P	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	16					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)			GAGGACCTTGGGGCTGAGGCT	0.532												
FRZB	2487	broad.mit.edu	37	2	183730945	183730945	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:183730945G>A	uc002upa.1	-	1	554	c.336C>T	c.(334-336)TGC>TGT	p.C112C		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	112	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGGCCCGCTCGCACACAGACT	0.627												
SLC40A1	30061	broad.mit.edu	37	2	190428721	190428721	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:190428721A>G	uc002uqp.3	-	7	1342	c.991T>C	c.(991-993)TAC>CAC	p.Y331H		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated	331					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GTGTAGGCGTACCCTGTGGTG	0.488												
MFSD6	54842	broad.mit.edu	37	2	191301912	191301912	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:191301912C>A	uc002urz.2	+	3	1481	c.1157C>A	c.(1156-1158)GCC>GAC	p.A386D		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	386	Helical; (Potential).				transmembrane transport	integral to membrane				ovary(2)	2						TTGATCGTTGCCACTCAGTTC	0.507												
STAT1	6772	broad.mit.edu	37	2	191872290	191872290	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:191872290T>C	uc002usj.2	-	5	759	c.371A>G	c.(370-372)CAG>CGG	p.Q124R	STAT1_uc010fse.1_Missense_Mutation_p.Q124R|STAT1_uc002usk.2_Missense_Mutation_p.Q124R|STAT1_uc002usl.2_Missense_Mutation_p.Q126R|STAT1_uc010fsf.1_5'UTR	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	124					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AAAAAGTACCTGATTAAATCT	0.328												
STK17B	9262	broad.mit.edu	37	2	197021202	197021202	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:197021202A>G	uc002utk.2	-	3	620	c.296T>C	c.(295-297)GTC>GCC	p.V99A	STK17B_uc010fsh.2_Missense_Mutation_p.V99A	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	99	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATTTTCATAGACCTCATGAAG	0.328												
PARD3B	117583	broad.mit.edu	37	2	206165331	206165331	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:206165331G>A	uc002var.1	+	17	2470	c.2263G>A	c.(2263-2265)GCC>ACC	p.A755T	PARD3B_uc010fub.1_Missense_Mutation_p.A755T|PARD3B_uc002vao.1_Missense_Mutation_p.A755T|PARD3B_uc002vap.1_Missense_Mutation_p.A693T|PARD3B_uc002vaq.1_Intron	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	755					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)		GACTGCAGTGGCCGAGGTCAG	0.517												
PIKFYVE	200576	broad.mit.edu	37	2	209195290	209195290	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:209195290G>A	uc002vcz.2	+	23	3993	c.3835G>A	c.(3835-3837)GTA>ATA	p.V1279I	PIKFYVE_uc002vcy.1_Missense_Mutation_p.V1223I	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1279					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						TACCCCCATGGTACATCATAT	0.438												
ERBB4	2066	broad.mit.edu	37	2	212251706	212251706	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:212251706T>C	uc002veg.1	-	27	3451	c.3353A>G	c.(3352-3354)CAT>CGT	p.H1118R	ERBB4_uc002veh.1_Missense_Mutation_p.H1102R|ERBB4_uc010zji.1_Missense_Mutation_p.H1108R|ERBB4_uc010zjj.1_Missense_Mutation_p.H1092R	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1118	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTCTTGGACATGGGGTGCCAC	0.557										TSP Lung(8;0.080)		
IKZF2	22807	broad.mit.edu	37	2	213872632	213872632	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:213872632C>T	uc002vem.2	-	8	1202	c.1033G>A	c.(1033-1035)GCT>ACT	p.A345T	IKZF2_uc010fuu.2_Missense_Mutation_p.A200T|IKZF2_uc002vej.2_Missense_Mutation_p.A292T|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.A271T|IKZF2_uc002vel.2_Missense_Mutation_p.A266T|IKZF2_uc010fuw.2_Missense_Mutation_p.A119T|IKZF2_uc010fux.2_Missense_Mutation_p.A119T|IKZF2_uc010fuy.2_Missense_Mutation_p.A273T|IKZF2_uc002ven.2_Missense_Mutation_p.A319T|IKZF2_uc002vei.2_Missense_Mutation_p.A123T	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	helios isoform 1	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GCCACTTCAGCGATTGTGCTT	0.478												
TNS1	7145	broad.mit.edu	37	2	218762539	218762539	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:218762539T>C	uc002vgt.2	-	6	548	c.150A>G	c.(148-150)AAA>AAG	p.K50K	TNS1_uc002vgr.2_Silent_p.K50K|TNS1_uc002vgs.2_Silent_p.K50K|TNS1_uc010zjv.1_Silent_p.K50K|TNS1_uc010fvj.1_Silent_p.K118K|TNS1_uc010fvk.1_Silent_p.K175K|TNS1_uc002vgu.3_Silent_p.K81K|TNS1_uc002vgv.1_RNA	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	50	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGCCTCCATGTTTGGACTTGA	0.562												
CXCR1	3577	broad.mit.edu	37	2	219029127	219029127	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:219029127T>C	uc002vhc.2	-	2	927	c.808A>G	c.(808-810)ACC>GCC	p.T270A		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	270	Extracellular (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						ATCACCTGGGTCCTCATGAGG	0.587												
USP37	57695	broad.mit.edu	37	2	219411727	219411727	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:219411727T>C	uc002vie.2	-	7	970	c.517A>G	c.(517-519)ACT>GCT	p.T173A	USP37_uc010fvs.1_Missense_Mutation_p.T173A|USP37_uc010zkf.1_Missense_Mutation_p.T173A|USP37_uc002vif.2_Missense_Mutation_p.T173A|USP37_uc002vig.2_Missense_Mutation_p.T101A|USP37_uc010zkg.1_Missense_Mutation_p.T173A	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	173					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCTGCTACAGTCTTAATCGAT	0.393												
RQCD1	9125	broad.mit.edu	37	2	219445338	219445338	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:219445338A>G	uc010zkh.1	+	2	79	c.79A>G	c.(79-81)AAT>GAT	p.N27D	RQCD1_uc002vih.1_Missense_Mutation_p.N27D|RQCD1_uc010zki.1_Missense_Mutation_p.N27D	NM_005444	NP_005435	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog	27					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(1)|skin(1)	2		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGTGGATCAATGAGCTGTC	0.428												
ZNF142	7701	broad.mit.edu	37	2	219508243	219508243	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:219508243T>C	uc002vin.2	-	8	3432	c.2996A>G	c.(2995-2997)CAC>CGC	p.H999R	ZNF142_uc002vil.2_Missense_Mutation_p.H960R|ZNF142_uc010fvt.2_Missense_Mutation_p.H836R|ZNF142_uc002vim.2_Missense_Mutation_p.H836R	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	999					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTCAAGGTGGTGCTTCTTAGG	0.592												
IRS1	3667	broad.mit.edu	37	2	227660074	227660074	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:227660074G>A	uc002voh.3	-	1	3433	c.3381C>T	c.(3379-3381)GGC>GGT	p.G1127G		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	1127					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)		TACCGCCACCGCCCCCTACTG	0.652												
COL4A4	1286	broad.mit.edu	37	2	227920728	227920728	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:227920728G>A	uc010zlt.1	-	30	3303	c.2649C>T	c.(2647-2649)CCC>CCT	p.P883P		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	883	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGAGGCCTGGGGGACCATGTG	0.627												
ARMC9	80210	broad.mit.edu	37	2	232091513	232091513	+	Splice_Site	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:232091513T>C	uc002vrq.3	+	7	734	c.622_splice	c.e7+2	p.E208_splice	ARMC9_uc002vrp.3_Splice_Site_p.E208_splice	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9								binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GTAACAAAGGTAAATCATCTA	0.403												
NCL	4691	broad.mit.edu	37	2	232325259	232325259	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:232325259T>C	uc002vru.2	-	5	969	c.828A>G	c.(826-828)GCA>GCG	p.A276A	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	nucleolin	276					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			ovary(2)|pancreas(1)	3		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		GTTTTCCAGGTGCTTCTTTGA	0.433												
DIS3L2	129563	broad.mit.edu	37	2	233199154	233199154	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:233199154C>T	uc010fxz.2	+	18	2510	c.2234C>T	c.(2233-2235)GCG>GTG	p.A745V	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_5'Flank	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	745							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGCCGCATGGCGTCCAAGCGC	0.622												
ALPP	250	broad.mit.edu	37	2	233244487	233244487	+	Silent	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:233244487A>C	uc002vsq.2	+	5	663	c.498A>C	c.(496-498)GGA>GGC	p.G166G	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	166						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AGTCAGTGGGAGTGGTAACCA	0.632												
COL6A3	1293	broad.mit.edu	37	2	238249716	238249716	+	Missense_Mutation	SNP	C	C	T	rs145884404		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:238249716C>T	uc002vwl.2	-	38	8128	c.7843G>A	c.(7843-7845)GAT>AAT	p.D2615N	COL6A3_uc002vwo.2_Missense_Mutation_p.D2409N|COL6A3_uc010znj.1_Missense_Mutation_p.D2008N|COL6A3_uc002vwj.2_5'UTR	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2615	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATGTCCACATCGCTCCCTGCC	0.522												
HDAC4	9759	broad.mit.edu	37	2	240033383	240033383	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:240033383C>T	uc002vyk.3	-	14	2594	c.1802G>A	c.(1801-1803)CGG>CAG	p.R601Q	HDAC4_uc010fyz.1_Missense_Mutation_p.R596Q|HDAC4_uc010zoa.1_Missense_Mutation_p.R601Q|HDAC4_uc010fza.2_Missense_Mutation_p.R606Q|HDAC4_uc010fyy.2_Missense_Mutation_p.R558Q|HDAC4_uc010znz.1_Missense_Mutation_p.R484Q	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	601					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)		CTGGTGGATCCGCTGCTGCTC	0.697												
C2orf54	79919	broad.mit.edu	37	2	241835242	241835242	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:241835242A>C	uc002wae.3	-	1	332	c.173T>G	c.(172-174)ATC>AGC	p.I58S		NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	hypothetical protein LOC79919 isoform 1	58											0		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GTAGTCCACGATGAAGCGGGG	0.682												
SNED1	25992	broad.mit.edu	37	2	241969712	241969712	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:241969712C>T	uc002wah.1	+	2	225	c.225C>T	c.(223-225)AAC>AAT	p.N75N		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	75					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGAACAACAACGGGATCATCT	0.647												
SDCBP2	27111	broad.mit.edu	37	20	1298987	1298987	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:1298987A>C	uc002wev.3	-	4	329	c.200T>G	c.(199-201)CTG>CGG	p.L67R	FKBP1A_uc010gac.2_Missense_Mutation_p.L67R|SDCBP2_uc010zpq.1_Missense_Mutation_p.L67R	NM_080489	NP_536737	Q9H190	SDCB2_HUMAN	syndecan binding protein 2 isoform a	67					intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(1)|skin(1)	2						AATCTGAAGCAGGCTCTCCTG	0.478												
SIRPG	55423	broad.mit.edu	37	20	1616978	1616978	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:1616978T>C	uc002wfm.1	-	3	669	c.604A>G	c.(604-606)AGT>GGT	p.S202G	SIRPG_uc002wfn.1_Missense_Mutation_p.S202G|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	202	Extracellular (Potential).|Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			ovary(1)	1						TAGGCCACACTCTGTCCTGTG	0.577												
SIRPG	55423	broad.mit.edu	37	20	1629991	1629991	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:1629991C>T	uc002wfm.1	-	2	202	c.137G>A	c.(136-138)GGA>GAA	p.G46E	SIRPG_uc002wfn.1_Missense_Mutation_p.G46E|SIRPG_uc002wfo.1_Missense_Mutation_p.G46E	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	46	Extracellular (Potential).|Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			ovary(1)	1						GGCTGTCTTTCCAACTGTGAC	0.512												
ZNF343	79175	broad.mit.edu	37	20	2465247	2465247	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:2465247A>G	uc002wge.1	-	6	848	c.360T>C	c.(358-360)TGT>TGC	p.C120C	ZNF343_uc010gao.1_Silent_p.C120C|ZNF343_uc002wgd.1_Silent_p.C30C	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	120	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						GGAACTGCTGACAGGAGAAGG	0.468												
DDRGK1	65992	broad.mit.edu	37	20	3171871	3171871	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:3171871C>T	uc002wic.2	-	8	765	c.743G>A	c.(742-744)CGC>CAC	p.R248H	DDRGK1_uc010gaw.2_RNA	NM_023935	NP_076424	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1 precursor	248	PCI.					endoplasmic reticulum	protein binding				0						GTCCTGGATGCGATTTATGGT	0.517												
LRRN4	164312	broad.mit.edu	37	20	6022558	6022558	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:6022558C>T	uc002wmo.2	-	5	1557	c.1333G>A	c.(1333-1335)GTT>ATT	p.V445I		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	445	Extracellular (Potential).					integral to membrane				skin(3)	3						CTGGGGAAAACGCTGGAGTTG	0.637												
TMX4	56255	broad.mit.edu	37	20	7990877	7990877	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:7990877C>A	uc002wmx.1	-	2	395	c.262G>T	c.(262-264)GTG>TTG	p.V88L		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	88	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane					0						ACCTTCCCCACACTGATCTGA	0.388												
PLCB1	23236	broad.mit.edu	37	20	8628584	8628584	+	Missense_Mutation	SNP	C	C	T	rs142186851		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:8628584C>T	uc002wnb.2	+	6	505	c.502C>T	c.(502-504)CGT>TGT	p.R168C	PLCB1_uc010zrb.1_Missense_Mutation_p.R67C|PLCB1_uc010gbv.1_Missense_Mutation_p.R168C|PLCB1_uc002wmz.1_Missense_Mutation_p.R168C|PLCB1_uc002wna.2_Missense_Mutation_p.R168C|PLCB1_uc002wnc.1_Missense_Mutation_p.R67C	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	168					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TCCAGAAGGGCGTATTCCTCT	0.323												
KIF16B	55614	broad.mit.edu	37	20	16360087	16360087	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:16360087C>G	uc002wpg.1	-	19	2718	c.2560G>C	c.(2560-2562)GTC>CTC	p.V854L	KIF16B_uc002wpe.1_Missense_Mutation_p.V236L|KIF16B_uc002wpf.1_Missense_Mutation_p.V236L|KIF16B_uc010gch.1_Missense_Mutation_p.V854L|KIF16B_uc010gci.1_Missense_Mutation_p.V854L|KIF16B_uc010gcj.1_Missense_Mutation_p.V865L	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	854	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						TCTTCTTGGACTTCTTTTTTC	0.418												
RRBP1	6238	broad.mit.edu	37	20	17640875	17640875	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:17640875G>C	uc010zrq.1	-	3	632	c.278C>G	c.(277-279)ACT>AGT	p.T93S	RRBP1_uc002wpu.2_5'Flank|RRBP1_uc002wpv.1_Missense_Mutation_p.T93S|RRBP1_uc002wpw.1_Missense_Mutation_p.T93S|RRBP1_uc010gcl.1_Intron|RRBP1_uc010zrr.1_Missense_Mutation_p.T93S			Q9P2E9	RRBP1_HUMAN	SubName: Full=RRBP1 protein; Flags: Fragment;	93	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						AAGGAGGACAGTCACATTGGG	0.423												
C20orf26	26074	broad.mit.edu	37	20	20144799	20144799	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:20144799C>T	uc002wru.2	+	11	1208	c.1132C>T	c.(1132-1134)CGC>TGC	p.R378C	C20orf26_uc010gcw.1_Missense_Mutation_p.R332C|C20orf26_uc010zse.1_Missense_Mutation_p.R378C|C20orf26_uc010zsf.1_Missense_Mutation_p.R378C	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	378										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CGTCCACTTCCGCCCCATCTA	0.493												
RALGAPA2	57186	broad.mit.edu	37	20	20552182	20552182	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:20552182G>A	uc002wrz.2	-	23	3219	c.3076C>T	c.(3076-3078)CGC>TGC	p.R1026C	RALGAPA2_uc010gcx.2_Missense_Mutation_p.R730C|RALGAPA2_uc010zsg.1_Missense_Mutation_p.R474C	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1026					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						ACGTCCTGGCGTCTGGTCATC	0.483												
CST2	1470	broad.mit.edu	37	20	23805952	23805952	+	Silent	SNP	G	G	A	rs146039211	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:23805952G>A	uc002wtq.1	-	2	252	c.237C>T	c.(235-237)GGC>GGT	p.G79G		NM_001322	NP_001313	P09228	CYTT_HUMAN	cystatin SA precursor	79	Secondary area of contact.					extracellular region	cysteine-type endopeptidase inhibitor activity				0						AATTCACCCCGCCCACGATCT	0.542												
ACSS1	84532	broad.mit.edu	37	20	24988531	24988531	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:24988531C>T	uc002wub.2	-	14	2815	c.1937G>A	c.(1936-1938)CGG>CAG	p.R646Q	ACSS1_uc002wuc.2_Missense_Mutation_p.R644Q|ACSS1_uc010gdc.2_Missense_Mutation_p.R441Q|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.R563Q	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	646					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTCAGGAGCCGCCGCATGAC	0.572												
TPX2	22974	broad.mit.edu	37	20	30370194	30370194	+	Splice_Site	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:30370194G>A	uc002wwp.1	+	11	1894	c.1196_splice	c.e11+1	p.Q399_splice	TPX2_uc010gdv.1_Splice_Site_p.Q435_splice	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog						activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AATTGCAACAGTAAGTCCCAC	0.478												
ZNF341	84905	broad.mit.edu	37	20	32345064	32345064	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:32345064C>T	uc002wzy.2	+	6	872	c.852C>T	c.(850-852)AGC>AGT	p.S284S	ZNF341_uc002wzx.2_Silent_p.S284S|ZNF341_uc010geq.2_Silent_p.S194S|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CCATGACCAGCGCCACCGGGG	0.637												
PROCR	10544	broad.mit.edu	37	20	33764236	33764236	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:33764236G>A	uc002xbt.2	+	3	772	c.588G>A	c.(586-588)GCG>GCA	p.A196A	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.A233A	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	196	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	ATATTTCCGCGGAAAACACGA	0.557												
MMP24	10893	broad.mit.edu	37	20	33862184	33862184	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:33862184C>T	uc002xbu.2	+	9	1713	c.1710C>T	c.(1708-1710)AAC>AAT	p.N570N	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	570	Extracellular (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGGGCTGCAACCAGAAGGAGG	0.617												
CEP250	11190	broad.mit.edu	37	20	34067191	34067191	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:34067191C>T	uc002xcm.2	+	19	2901	c.2230C>T	c.(2230-2232)CGG>TGG	p.R744W	CEP250_uc010zve.1_Missense_Mutation_p.R112W	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	744	Gln/Glu-rich.|Potential.				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)			TCTAGAGGTGCGGCTGCAGGC	0.602												
DLGAP4	22839	broad.mit.edu	37	20	35060903	35060903	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:35060903T>C	uc002xff.2	+	3	1218	c.783T>C	c.(781-783)ACT>ACC	p.T261T	DLGAP4_uc010zvp.1_Silent_p.T261T	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	261					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGAACAACACTACTGAGCTGA	0.622												
NDRG3	57446	broad.mit.edu	37	20	35293701	35293701	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:35293701G>A	uc002xfw.2	-	11	778	c.696C>T	c.(694-696)CGC>CGT	p.R232R	NDRG3_uc002xfx.2_Silent_p.R220R|NDRG3_uc010zvq.1_Silent_p.R137R|NDRG3_uc010zvr.1_Silent_p.R120R	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	N-myc downstream regulated gene 3 isoform a	232					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)				CCAGGTCTCTGCGTCTAGAAA	0.383												
RBL1	5933	broad.mit.edu	37	20	35689518	35689518	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:35689518A>G	uc002xgi.2	-	9	1317	c.1238T>C	c.(1237-1239)ATA>ACA	p.I413T	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.I413T|RBL1_uc010gfv.1_RNA	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	413	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				AAAAATATTTATAAGTTGGTC	0.333												
TGM2	7052	broad.mit.edu	37	20	36759566	36759566	+	Silent	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:36759566A>C	uc002xhr.2	-	12	1942	c.1842T>G	c.(1840-1842)CCT>CCG	p.P614P	TGM2_uc002xhq.2_Silent_p.P215P|TGM2_uc010zvx.1_Silent_p.P533P|TGM2_uc010zvy.1_Silent_p.P554P|TGM2_uc002xhs.1_Silent_p.P590P	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	614					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCAGGGCCACAGGGAGCGGGT	0.627												
TOP1	7150	broad.mit.edu	37	20	39726979	39726979	+	Splice_Site	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:39726979T>C	uc002xjl.2	+	11	1221	c.975_splice	c.e11+2	p.L325_splice	uc002xjn.1_RNA	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I						DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GAGAAACTGGTACTACAGAAT	0.368			T	NUP98	AML*							
C20orf111	51526	broad.mit.edu	37	20	42826132	42826132	+	Missense_Mutation	SNP	C	C	T	rs2232289		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:42826132C>T	uc002xlk.2	-	4	576	c.439G>A	c.(439-441)GTT>ATT	p.V147I		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	oxidative stress responsive 1	147											0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AAAGGCTCAACGACTGCCCCT	0.517												
HNF4A	3172	broad.mit.edu	37	20	43034754	43034754	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:43034754G>A	uc002xma.2	+	2	261	c.172G>A	c.(172-174)GCC>ACC	p.A58T	HNF4A_uc010zwo.1_Silent_p.A48A|HNF4A_uc002xlt.2_Missense_Mutation_p.A36T|HNF4A_uc002xlu.2_Missense_Mutation_p.A36T|HNF4A_uc002xlv.2_Missense_Mutation_p.A36T|HNF4A_uc002xly.2_Missense_Mutation_p.A58T|HNF4A_uc002xlz.2_Missense_Mutation_p.A58T|HNF4A_uc010ggq.2_Missense_Mutation_p.A51T	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	58	Nuclear receptor.				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGGTGTCAGCGCCCTGTGTGC	0.627												
TTPAL	79183	broad.mit.edu	37	20	43108907	43108907	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:43108907T>C	uc002xmc.1	+	3	392	c.268T>C	c.(268-270)TTT>CTT	p.F90L	TTPAL_uc002xmd.1_Missense_Mutation_p.F90L|TTPAL_uc010ggr.1_5'UTR	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	90						intracellular	transporter activity			breast(1)	1						AGCCCGCAAGTTTGATTACGA	0.557												
ADA	100	broad.mit.edu	37	20	43251662	43251662	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:43251662C>T	uc002xmj.2	-	7	792	c.664G>A	c.(664-666)GAA>AAA	p.E222K	ADA_uc010ggt.2_RNA	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	222					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)	TTTACTACTTCGGCCGAGCCC	0.627									Adenosine_Deaminase_Deficiency			
PABPC1L	80336	broad.mit.edu	37	20	43559190	43559190	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:43559190C>T	uc010ggv.1	+	8	1144	c.1062C>T	c.(1060-1062)AAC>AAT	p.N354N	PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.2_5'Flank	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	354	RRM 4.						nucleotide binding|RNA binding			ovary(1)	1						CAGAGATGAACGGGCGCATCG	0.577												
KCNS1	3787	broad.mit.edu	37	20	43726483	43726483	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:43726483A>G	uc002xnc.2	-	4	1327	c.930T>C	c.(928-930)ATT>ATC	p.I310I	KCNS1_uc002xnd.2_Silent_p.I310I	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	310	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				GCACAGACACAATGTCGATGA	0.627												
ZNF335	63925	broad.mit.edu	37	20	44596190	44596190	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:44596190G>A	uc002xqw.2	-	6	1021	c.898C>T	c.(898-900)CCA>TCA	p.P300S	ZNF335_uc010zxk.1_Missense_Mutation_p.P145S|ZNF335_uc002xqx.1_Missense_Mutation_p.P268S|ZNF335_uc002xqy.2_Missense_Mutation_p.P145S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCCTCCTCTGGTCCCTCTTCC	0.572												
ZMYND8	23613	broad.mit.edu	37	20	45865224	45865224	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:45865224G>A	uc002xta.1	-	16	2896	c.2642C>T	c.(2641-2643)ACG>ATG	p.T881M	ZMYND8_uc010ghq.1_Missense_Mutation_p.T512M|ZMYND8_uc010ghr.1_Missense_Mutation_p.T810M|ZMYND8_uc002xst.1_Missense_Mutation_p.T763M|ZMYND8_uc002xsu.1_Missense_Mutation_p.T754M|ZMYND8_uc002xsv.1_Missense_Mutation_p.T809M|ZMYND8_uc002xsw.1_Missense_Mutation_p.T587M|ZMYND8_uc002xsx.1_Missense_Mutation_p.T587M|ZMYND8_uc002xsy.1_Missense_Mutation_p.T810M|ZMYND8_uc002xsz.1_Missense_Mutation_p.T772M|ZMYND8_uc010zxy.1_Missense_Mutation_p.T908M|ZMYND8_uc002xtb.1_Missense_Mutation_p.T855M|ZMYND8_uc002xss.2_Missense_Mutation_p.T881M|ZMYND8_uc010zxz.1_Missense_Mutation_p.T749M|ZMYND8_uc002xtc.1_Missense_Mutation_p.T855M|ZMYND8_uc002xtd.1_Missense_Mutation_p.T830M|ZMYND8_uc002xte.1_Missense_Mutation_p.T835M|ZMYND8_uc010zya.1_Missense_Mutation_p.T881M|ZMYND8_uc002xtf.1_Missense_Mutation_p.T901M|ZMYND8_uc002xsr.1_Translation_Start_Site	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	881							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GATGGTGGACGTGGATGGGCT	0.597												
KCNG1	3755	broad.mit.edu	37	20	49626482	49626482	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:49626482G>A	uc002xwa.3	-	2	689	c.394C>T	c.(394-396)CGC>TGC	p.R132C	KCNG1_uc002xwb.2_Missense_Mutation_p.R132C	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	132	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						TTGCCCGCGCGCAGGAAGGTC	0.647												
ZNF217	7764	broad.mit.edu	37	20	52199232	52199232	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:52199232A>G	uc002xwq.3	-	1	405	c.134T>C	c.(133-135)GTT>GCT	p.V45A	ZNF217_uc010gij.1_Missense_Mutation_p.V37A	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	45					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAATGGAACAACAGCGGTCCC	0.478												
CSTF1	1477	broad.mit.edu	37	20	54978601	54978601	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:54978601G>A	uc002xxl.1	+	6	1314	c.1114G>A	c.(1114-1116)GAC>AAC	p.D372N	CSTF1_uc002xxm.1_Missense_Mutation_p.D372N|CSTF1_uc002xxn.1_Missense_Mutation_p.D372N|CSTF1_uc002xxo.1_Missense_Mutation_p.D315N	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	372					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(1)	1			Colorectal(105;0.202)			GTTGCTGCCCGACGAGAGGAC	0.572												
ZNF831	128611	broad.mit.edu	37	20	57766849	57766849	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:57766849C>T	uc002yan.2	+	1	775	c.775C>T	c.(775-777)CTG>TTG	p.L259L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	259						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					TGCCAAGAACCTGGATGTGAG	0.662												
HRH3	11255	broad.mit.edu	37	20	60791216	60791216	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:60791216T>G	uc002ycf.2	-	3	1481	c.1184A>C	c.(1183-1185)GAA>GCA	p.E395A	HRH3_uc002ycg.2_Missense_Mutation_p.E315A|HRH3_uc002ych.2_Intron|HRH3_uc002yci.2_Missense_Mutation_p.E395A	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	395	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GAAGGAGGTTTCGTACCAGTA	0.622												
HRH3	11255	broad.mit.edu	37	20	60794884	60794884	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:60794884G>A	uc002ycf.2	-	1	440	c.143C>T	c.(142-144)ACG>ATG	p.T48M	HRH3_uc002ycg.2_Missense_Mutation_p.T48M|HRH3_uc002ych.2_Missense_Mutation_p.T48M|HRH3_uc002yci.2_Missense_Mutation_p.T48M	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	48	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GCCCAGCACCGTGGCCACGAT	0.522												
LAMA5	3911	broad.mit.edu	37	20	60887363	60887363	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:60887363C>T	uc002ycq.2	-	69	9437	c.9370G>A	c.(9370-9372)GCC>ACC	p.A3124T		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3124	Laminin G-like 3.				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)	AAAGTCATGGCGCGCCCCACC	0.692												
LAMA5	3911	broad.mit.edu	37	20	60904862	60904862	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:60904862G>A	uc002ycq.2	-	32	4157	c.4090C>T	c.(4090-4092)CGT>TGT	p.R1364C		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1364	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGGGCACACGCACGGTCACA	0.622												
LAMA5	3911	broad.mit.edu	37	20	60927304	60927304	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:60927304G>A	uc002ycq.2	-	4	748	c.681C>T	c.(679-681)AAC>AAT	p.N227N		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	227	Laminin N-terminal.				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)	ccacctctccGTTCTCCAGGG	0.328												
YTHDF1	54915	broad.mit.edu	37	20	61834233	61834233	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:61834233G>A	uc002yeh.2	-	4	1353	c.1059C>T	c.(1057-1059)AAC>AAT	p.N353N	YTHDF1_uc011aaq.1_Silent_p.N303N	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	353										ovary(2)	2						TAGGCTGGACGTTTCCAGGAG	0.592												
PTK6	5753	broad.mit.edu	37	20	62163960	62163960	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:62163960A>G	uc002yfg.2	-	5	791	c.751T>C	c.(751-753)TAC>CAC	p.Y251H	PTK6_uc011aay.1_Missense_Mutation_p.Y150H|PTK6_uc011aaz.1_Missense_Mutation_p.Y13H	NM_005975	NP_005966	Q13882	PTK6_HUMAN	PTK6 protein tyrosine kinase 6	251	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|kidney(1)	2	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			ACCACGGCGTACAGCGCCAGG	0.657												
PRIC285	85441	broad.mit.edu	37	20	62194212	62194212	+	Missense_Mutation	SNP	C	C	T	rs115251319	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:62194212C>T	uc002yfm.2	-	9	6855	c.5963G>A	c.(5962-5964)CGC>CAC	p.R1988H	PRIC285_uc002yfl.1_Missense_Mutation_p.R1419H	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1988					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)			GGCCTCCAGGCGGAAGGCGCC	0.677												
ZNF512B	57473	broad.mit.edu	37	20	62597930	62597930	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:62597930T>C	uc002yhl.1	-	5	652	c.598A>G	c.(598-600)ATT>GTT	p.I200V		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGTTTGCCAATAGTGACAGGT	0.622												
ADAMTS1	9510	broad.mit.edu	37	21	28213404	28213404	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:28213404C>T	uc002ymf.2	-	4	1746	c.1291G>A	c.(1291-1293)GCG>ACG	p.A431T		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	431	Peptidase M12B.				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)		AGCATTGACGCCATCATGTGG	0.483												
KRTAP23-1	337963	broad.mit.edu	37	21	31720883	31720883	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:31720883G>A	uc002yny.1	-	1	42	c.42C>T	c.(40-42)TCC>TCT	p.S14S		NM_181624	NP_853655	A1A580	KR231_HUMAN	keratin associated protein 23-1	14						intermediate filament					0						AGCCCTCACAGGAATGGGAGG	0.552												
TIAM1	7074	broad.mit.edu	37	21	32513685	32513685	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:32513685C>T	uc002yow.1	-	22	4085	c.3613G>A	c.(3613-3615)GCC>ACC	p.A1205T	TIAM1_uc011adk.1_Missense_Mutation_p.A1205T|TIAM1_uc011adl.1_Missense_Mutation_p.A1145T	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1205	DH.				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						TCGGTCAGGGCGAACAGCTCC	0.612												
SFRS15	57466	broad.mit.edu	37	21	33074095	33074095	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:33074095G>A	uc002ypd.2	-	6	1020	c.594C>T	c.(592-594)GGC>GGT	p.G198G	SFRS15_uc002ype.2_Silent_p.G198G|SFRS15_uc010glu.2_Silent_p.G183G|SFRS15_uc002ypf.1_5'UTR|SFRS15_uc002ypg.2_Silent_p.G198G	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	198						nucleus	nucleotide binding|RNA binding				0						TTACCTGTTGGCCTTGAGTTG	0.453												
TCP10L	140290	broad.mit.edu	37	21	33951127	33951127	+	Silent	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:33951127A>T	uc002ypw.3	-	4	491	c.375T>A	c.(373-375)GCT>GCA	p.A125A		NM_144659	NP_653260	Q9NV44	CU077_HUMAN	T-complex 10A-2	Error:Variant_position_missing_in_Q9NV44_after_alignment											0						TTTTTCCAAAAGCAGGTTCCA	0.373												
SON	6651	broad.mit.edu	37	21	34922824	34922824	+	Silent	SNP	G	G	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:34922824G>C	uc002yse.1	+	3	1336	c.1287G>C	c.(1285-1287)GGG>GGC	p.G429G	SON_uc002ysb.1_Silent_p.G429G|SON_uc002ysc.2_Silent_p.G429G|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	429					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						AGTTGCCAGGGCCCCCTGCGA	0.647												
MORC3	23515	broad.mit.edu	37	21	37709238	37709238	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:37709238A>G	uc002yvi.2	+	3	255	c.179A>G	c.(178-180)CAT>CGT	p.H60R		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	60					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						ATAAATGACCATATATGCTTG	0.328												
BRWD1	54014	broad.mit.edu	37	21	40570880	40570880	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:40570880T>A	uc002yxk.1	-	40	5601	c.5462A>T	c.(5461-5463)GAC>GTC	p.D1821V	BRWD1_uc010goc.1_Missense_Mutation_p.D464V|BRWD1_uc002yxl.2_Missense_Mutation_p.D1821V	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GTCTTCTGAGTCACTCAGAAT	0.378												
BACE2	25825	broad.mit.edu	37	21	42629207	42629207	+	Silent	SNP	C	C	T	rs146415207		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:42629207C>T	uc002yyw.2	+	8	1720	c.1257C>T	c.(1255-1257)TTC>TTT	p.F419F	BACE2_uc002yyx.2_Silent_p.F369F|BACE2_uc002yyy.2_Intron|BACE2_uc010goo.2_Intron	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	419	Extracellular (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				ACGTCATCTTCGACAGAGCCC	0.557												
RRP1	8568	broad.mit.edu	37	21	45217542	45217542	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:45217542G>A	uc002zds.2	+	7	676	c.583G>A	c.(583-585)GAC>AAC	p.D195N	RRP1_uc011aez.1_Missense_Mutation_p.D195N|RRP1_uc010gpk.1_Missense_Mutation_p.D45N|RRP1_uc010gpl.1_Missense_Mutation_p.D93N|RRP1_uc010gpm.1_Missense_Mutation_p.D62N	NM_003683	NP_003674	P56182	RRP1_HUMAN	ribosomal RNA processing 1 homolog	195					rRNA processing	nucleolus|preribosome, small subunit precursor					0				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GAAGTTCATCGACCCCTTCTG	0.612												
SLC19A1	6573	broad.mit.edu	37	21	46950869	46950869	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:46950869G>A	uc002zhl.1	-	4	1085	c.966C>T	c.(964-966)TTC>TTT	p.F322F	SLC19A1_uc010gpy.1_Silent_p.F322F|SLC19A1_uc011aft.1_Silent_p.F282F|SLC19A1_uc002zhm.1_Silent_p.F322F|SLC19A1_uc010gpz.1_Silent_p.F201F	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	322	Helical; (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		AGCCCGCGGCGAAGGACGTGA	0.701												
PRMT2	3275	broad.mit.edu	37	21	48063467	48063467	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:48063467C>T	uc002zjx.2	+	4	374	c.60C>T	c.(58-60)TGC>TGT	p.C20C	PRMT2_uc002zjw.2_Silent_p.C20C|PRMT2_uc002zjy.2_Silent_p.C20C|PRMT2_uc010gqm.2_Silent_p.C20C|PRMT2_uc011aga.1_Silent_p.C20C|PRMT2_uc011agb.1_Silent_p.C20C|PRMT2_uc011agc.1_Silent_p.C20C|PRMT2_uc002zjz.1_5'UTR	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	20					developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			ovary(1)	1	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		CTGCTGAGTGCAGTGAGGCCG	0.537												
SLC25A1	6576	broad.mit.edu	37	22	19163996	19163996	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:19163996C>T	uc002zoz.2	-	8	874	c.759G>A	c.(757-759)GCG>GCA	p.A253A	SLC25A1_uc002zoy.2_Silent_p.A150A|SLC25A1_uc002zpa.2_Silent_p.A201A	NM_005984	NP_005975	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier;	253	Solcar 3.				gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding				0	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		GGTATTTGTGCGCCTCCAGGC	0.657												
CCDC116	164592	broad.mit.edu	37	22	21988331	21988331	+	Silent	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:21988331A>T	uc002zve.2	+	3	186	c.93A>T	c.(91-93)CCA>CCT	p.P31P	CCDC116_uc011aih.1_Silent_p.P31P	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	31										ovary(1)|skin(1)	2	Colorectal(54;0.105)					CCAAGAAGCCACTGGTCCCAG	0.627												
MMP11	4320	broad.mit.edu	37	22	24122628	24122628	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:24122628A>C	uc002zxx.2	+	3	443	c.421A>C	c.(421-423)ACG>CCG	p.T141P	MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_5'Flank	NM_005940	NP_005931	P24347	MMP11_HUMAN	matrix metalloproteinase 11 preproprotein	141					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|large_intestine(1)	3		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				GAGCGATGTGACGCCACTCAC	0.622												
CABIN1	23523	broad.mit.edu	37	22	24468323	24468323	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:24468323C>T	uc002zzi.1	+	18	2622	c.2495C>T	c.(2494-2496)GCT>GTT	p.A832V	CABIN1_uc002zzj.1_Missense_Mutation_p.A782V|CABIN1_uc002zzl.1_Missense_Mutation_p.A832V	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	832					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TGCAGCATGGCTGTGCAGGAG	0.582												
MYO18B	84700	broad.mit.edu	37	22	26423136	26423136	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:26423136T>G	uc003abz.1	+	43	7446	c.7196T>G	c.(7195-7197)CTT>CGT	p.L2399R	MYO18B_uc003aca.1_Missense_Mutation_p.L2280R|MYO18B_uc010guy.1_Missense_Mutation_p.L2281R|MYO18B_uc010guz.1_Missense_Mutation_p.L2279R|MYO18B_uc011aka.1_Missense_Mutation_p.L1553R|MYO18B_uc011akb.1_Missense_Mutation_p.L1912R|MYO18B_uc010gva.1_Missense_Mutation_p.L382R|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2399						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						TGTCCAGACCTTGGAAAGGAG	0.602												
HPS4	89781	broad.mit.edu	37	22	26854542	26854542	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:26854542T>C	uc003acl.2	-	12	2374	c.1715A>G	c.(1714-1716)TAC>TGC	p.Y572C	HPS4_uc003aci.2_Missense_Mutation_p.Y567C|HPS4_uc003acj.2_Missense_Mutation_p.Y436C|HPS4_uc003ack.2_Missense_Mutation_p.Y363C|HPS4_uc003acn.2_Missense_Mutation_p.Y418C|HPS4_uc003ach.2_Missense_Mutation_p.Y307C	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	572					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						GCTGCTGTGGTACTGCAAAGG	0.532									Hermansky-Pudlak_syndrome			
ZNRF3	84133	broad.mit.edu	37	22	29444421	29444421	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:29444421C>T	uc003aeg.2	+	7	822	c.657C>T	c.(655-657)TGC>TGT	p.C219C	ZNRF3_uc003aeh.1_Silent_p.C219C	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	319	RING-type; atypical.|Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						ACAGGAAGTGCGTGGACCCCT	0.607												
RFPL1	5988	broad.mit.edu	37	22	29838103	29838103	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:29838103G>A	uc003afn.2	+	2	1155	c.946G>A	c.(946-948)GCC>ACC	p.A316T	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	316							zinc ion binding				0						TCCTGGGGAGGCCAAATAAGC	0.453												
NEFH	4744	broad.mit.edu	37	22	29879408	29879408	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:29879408G>A	uc003afo.2	+	2	999	c.928G>A	c.(928-930)GCT>ACT	p.A310T		NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	310	Coil 2B.|Rod.				cell death|nervous system development	neurofilament					0						GAACACAGACGCTATGCGCTC	0.592												
MTMR3	8897	broad.mit.edu	37	22	30403132	30403132	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:30403132G>A	uc003agv.3	+	10	1029	c.701G>A	c.(700-702)CGC>CAC	p.R234H	MTMR3_uc003agu.3_Missense_Mutation_p.R234H|MTMR3_uc003agw.3_Missense_Mutation_p.R234H	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	234	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTCATTGCCCGCTGTGGACAG	0.507												
SFI1	9814	broad.mit.edu	37	22	32010792	32010792	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:32010792C>T	uc003ale.2	+	28	3407	c.3014C>T	c.(3013-3015)GCG>GTG	p.A1005V	SFI1_uc003alf.2_Missense_Mutation_p.A974V|SFI1_uc003alg.2_Missense_Mutation_p.A923V|SFI1_uc011alp.1_Missense_Mutation_p.A911V|SFI1_uc011alq.1_Missense_Mutation_p.A950V|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_Missense_Mutation_p.A97V|SFI1_uc003alj.2_Nonsense_Mutation_p.R77*	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	1005					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						GCCCACTCAGCGAGGAAGCAG	0.632												
SLC5A1	6523	broad.mit.edu	37	22	32498181	32498181	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:32498181T>C	uc003amc.2	+	13	1854	c.1622T>C	c.(1621-1623)ATC>ACC	p.I541T	SLC5A1_uc011alz.1_Missense_Mutation_p.I414T	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	541	Helical; (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						TTCATCACCATCGTGGTCATC	0.488												
SLC5A4	6527	broad.mit.edu	37	22	32620257	32620257	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:32620257T>C	uc003ami.2	-	13	1664	c.1662A>G	c.(1660-1662)GTA>GTG	p.V554V		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	554	Cytoplasmic (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						CACTCACATGTACATCAGGAA	0.294												
C22orf28	51493	broad.mit.edu	37	22	32792083	32792083	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:32792083G>A	uc003amm.2	-	8	1099	c.968C>T	c.(967-969)TCC>TTC	p.S323F	C22orf28_uc011ama.1_RNA	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	hypothetical protein LOC51493	323					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding				0						GAAGGTCATGGAAGAGCGGTT	0.483												
MICALL1	85377	broad.mit.edu	37	22	38323791	38323791	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:38323791G>T	uc003aui.2	+	9	1923	c.1839G>T	c.(1837-1839)CCG>CCT	p.P613P		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	613	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					ACAGGAGCCCGGTGCCTTCCC	0.642												
MAFF	23764	broad.mit.edu	37	22	38610598	38610598	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:38610598G>A	uc011anp.1	+	3	546	c.208G>A	c.(208-210)GTG>ATG	p.V70M	MAFF_uc003avc.2_Missense_Mutation_p.V70M|MAFF_uc011anq.1_Missense_Mutation_p.V41M|MAFF_uc011anr.1_Missense_Mutation_p.V70M|MAFF_uc003avd.2_Missense_Mutation_p.R119H	NM_001161572	NP_001155044	Q9ULX9	MAFF_HUMAN	transcription factor MAFF isoform a	70	Basic motif.				blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Melanoma(58;0.045)					CAGCTGCCGCGTGAAGCGCGT	0.682												
GTPBP1	9567	broad.mit.edu	37	22	39122294	39122294	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:39122294T>C	uc003awg.2	+	8	1404	c.1250T>C	c.(1249-1251)CTG>CCG	p.L417P		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	417					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)					GGGACAACACTGAGAGGCCTG	0.577												
CACNA1I	8911	broad.mit.edu	37	22	40068244	40068244	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:40068244C>A	uc003ayc.2	+	27	4580	c.4580C>A	c.(4579-4581)ACC>AAC	p.T1527N	CACNA1I_uc003ayd.2_Missense_Mutation_p.T1492N|CACNA1I_uc003aye.2_Missense_Mutation_p.T1442N|CACNA1I_uc003ayf.2_Missense_Mutation_p.T1407N	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1527	Helical; Name=S2 of repeat IV; (Potential).|IV.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TATATGTTCACCACTGTCTTT	0.517												
TNRC6B	23112	broad.mit.edu	37	22	40681709	40681709	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:40681709G>A	uc011aor.1	+	12	3854	c.3643G>A	c.(3643-3645)GTG>ATG	p.V1215M	TNRC6B_uc003aym.2_Missense_Mutation_p.V411M|TNRC6B_uc003ayn.3_Missense_Mutation_p.V1105M|TNRC6B_uc003ayo.2_Missense_Mutation_p.V962M	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1215	Gln-rich.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						GCACACACCCGTGCAGCCACT	0.473												
EP300	2033	broad.mit.edu	37	22	41566520	41566520	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:41566520G>T	uc003azl.3	+	27	4792	c.4397G>T	c.(4396-4398)TGG>TTG	p.W1466L		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1466					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CTGCAGGAATGGTACAAAAAA	0.478			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome			
TTLL12	23170	broad.mit.edu	37	22	43576915	43576915	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:43576915G>A	uc003bdq.2	-	3	411	c.379C>T	c.(379-381)CGT>TGT	p.R127C	TTLL12_uc003bdr.1_Missense_Mutation_p.R127C	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	127					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)				TGCTCCACACGGCACGTCCAG	0.662												
PKDREJ	10343	broad.mit.edu	37	22	46657010	46657010	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:46657010A>T	uc003bhh.2	-	1	2210	c.2210T>A	c.(2209-2211)CTC>CAC	p.L737H		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	737	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTGATCGATGAGGTGTTTTCG	0.398												
BRD1	23774	broad.mit.edu	37	22	50217867	50217867	+	Silent	SNP	G	G	A	rs149523607	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:50217867G>A	uc003biv.2	-	1	586	c.99C>T	c.(97-99)TAC>TAT	p.Y33Y	BRD1_uc011arf.1_Translation_Start_Site|BRD1_uc011arg.1_Silent_p.Y33Y|BRD1_uc011arh.1_Silent_p.Y33Y|BRD1_uc003biu.3_Silent_p.Y33Y	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	33					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)		GAGCTTGAGCGTAGGTCAGCG	0.493												
CRELD2	79174	broad.mit.edu	37	22	50313464	50313464	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:50313464A>G	uc003bja.2	+	3	434	c.299A>G	c.(298-300)CAC>CGC	p.H100R	ALG12_uc003biy.2_5'Flank|CRELD2_uc003biz.3_Missense_Mutation_p.H100R|CRELD2_uc010haj.2_Missense_Mutation_p.H100R|CRELD2_uc010hal.2_Missense_Mutation_p.H100R|CRELD2_uc010hak.2_Missense_Mutation_p.H100R|CRELD2_uc010ham.2_Missense_Mutation_p.H100R	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2 isoform b	100						endoplasmic reticulum|extracellular region	calcium ion binding				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGAGGAGCACCTGGAGGCC	0.443												
IL17REL	400935	broad.mit.edu	37	22	50439591	50439591	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:50439591G>A	uc003bje.1	-	4	261	c.29C>T	c.(28-30)ACG>ATG	p.T10M		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	10										pancreas(1)	1		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGTGGAGGACGTCAGGGCCTC	0.642												
CHKB	1120	broad.mit.edu	37	22	51017908	51017908	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:51017908C>A	uc003bms.2	-	10	1278	c.1060G>T	c.(1060-1062)GGT>TGT	p.G354C	CPT1B_uc003bmk.3_5'Flank|CPT1B_uc003bml.2_5'Flank|CPT1B_uc003bmm.2_5'Flank|CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'UTR|CHKB-CPT1B_uc003bmt.1_Missense_Mutation_p.G145C|CHKB-CPT1B_uc003bmu.2_Missense_Mutation_p.G233C|CHKB_uc003bmv.2_Missense_Mutation_p.G354C	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	choline kinase beta	354					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GACCACAGACCCCAGAAGAAA	0.567												
EDEM1	9695	broad.mit.edu	37	3	5244703	5244703	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:5244703C>T	uc003bqi.2	+	5	1043	c.911C>T	c.(910-912)GCG>GTG	p.A304V	EDEM1_uc011asz.1_Missense_Mutation_p.A82V|EDEM1_uc003bqh.2_Missense_Mutation_p.A304V	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like	304	Lumenal (Potential).				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			ovary(2)|breast(1)	3				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		ACATGCACAGCGGGAGCCGGT	0.527												
LHFPL4	375323	broad.mit.edu	37	3	9547804	9547804	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:9547804C>T	uc003bry.2	-	3	776	c.490G>A	c.(490-492)GGG>AGG	p.G164R		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	164						integral to membrane				ovary(2)|skin(1)	3	Medulloblastoma(99;0.227)					GAGTACTTCCCCGTCTTGGCC	0.617												
FANCD2	2177	broad.mit.edu	37	3	10084268	10084268	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:10084268T>C	uc003buw.2	+	11	887	c.809T>C	c.(808-810)TTG>TCG	p.L270S	FANCD2_uc003bux.1_Missense_Mutation_p.L270S|FANCD2_uc003buy.1_Missense_Mutation_p.L270S	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	270	Interaction with FANCE.|Interaction with BRCA2.				DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATGGATAAGTTGTCGTCTATT	0.358			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
DAZL	1618	broad.mit.edu	37	3	16638359	16638359	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:16638359A>G	uc003cbb.2	-	6	690	c.396T>C	c.(394-396)AAT>AAC	p.N132N	DAZL_uc003cba.2_Silent_p.N152N	NM_001351	NP_001342	Q92904	DAZL_HUMAN	deleted in azoospermia-like	132	Homodimerization (By similarity).				germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity				0						GAGGAGGATGATTAAAAACCA	0.378												
ZNF385D	79750	broad.mit.edu	37	3	21467097	21467097	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:21467097C>T	uc003cce.2	-	6	1147	c.739G>A	c.(739-741)GCA>ACA	p.A247T		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	247						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						TTCACTCCTGCCCTAGGAAAG	0.398												
SLC4A7	9497	broad.mit.edu	37	3	27427494	27427494	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:27427494C>T	uc003cdv.2	-	23	3425	c.3354G>A	c.(3352-3354)GTG>GTA	p.V1118V	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Silent_p.V999V|SLC4A7_uc011aww.1_Silent_p.V1127V|SLC4A7_uc011awx.1_Silent_p.V1114V|SLC4A7_uc011awy.1_Silent_p.V1110V|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Silent_p.V999V|SLC4A7_uc011axb.1_Silent_p.V1114V|SLC4A7_uc010hfl.2_Silent_p.V668V|SLC4A7_uc003cdw.2_Silent_p.V994V	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	1118	Cytoplasmic (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5						TGAGTTTGCGCACAAACACTA	0.284												
OSBPL10	114884	broad.mit.edu	37	3	31774766	31774766	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:31774766A>C	uc003cev.2	-	7	1459	c.1078T>G	c.(1078-1080)TCA>GCA	p.S360A	OSBPL10_uc003ceu.1_Missense_Mutation_p.S117A|OSBPL10_uc011axf.1_Missense_Mutation_p.S296A	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	360					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		TCTGGCTGTGAGGTTTGTTCG	0.453												
ITGA9	3680	broad.mit.edu	37	3	37567542	37567542	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:37567542C>T	uc003chd.2	+	13	1406	c.1353C>T	c.(1351-1353)TCC>TCT	p.S451S	ITGA9_uc003chc.2_Silent_p.S451S	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	451	Extracellular (Potential).|FG-GAP 7.				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CCTTCATGTCCGACAGCGTGG	0.522												
SCN11A	11280	broad.mit.edu	37	3	38966983	38966983	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:38966983G>A	uc011ays.1	-	5	834	c.635C>T	c.(634-636)CCA>CTA	p.P212L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	212	Helical; Name=S3 of repeat I; (By similarity).|I.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGTGATTCCTGGAATATATGA	0.468												
TGM4	7047	broad.mit.edu	37	3	44943294	44943294	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:44943294C>T	uc003coc.3	+	8	915	c.842C>T	c.(841-843)GCG>GTG	p.A281V		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	281					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GTGCTGAGAGCGTTGGGCATC	0.582												
LARS2	23395	broad.mit.edu	37	3	45554625	45554625	+	Splice_Site	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:45554625A>C	uc003cop.1	+	16	1946	c.1761_splice	c.e16-2	p.R587_splice	LARS2_uc010hit.1_Splice_Site_p.R544_splice	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial						leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ATCTTTCCTCAGGGAGCCTTT	0.522												
SETD2	29072	broad.mit.edu	37	3	47098830	47098830	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:47098830T>C	uc003cqs.2	-	15	6497	c.6444A>G	c.(6442-6444)TCA>TCG	p.S2148S	SETD2_uc003cqv.2_Silent_p.S2215S|SETD2_uc003cqt.1_RNA	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2148	Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGGGCAGTGGTGATGTCATTC	0.517			N|F|S|Mis		clear cell renal carcinoma							
SMARCC1	6599	broad.mit.edu	37	3	47716999	47716999	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:47716999C>T	uc003crq.2	-	18	1923	c.1805G>A	c.(1804-1806)CGT>CAT	p.R602H	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.R493H	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	602					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AATGTCAGTACGGAGACCAAA	0.363												
DHX30	22907	broad.mit.edu	37	3	47887826	47887826	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:47887826C>T	uc003cru.2	+	11	1690	c.1264C>T	c.(1264-1266)CGG>TGG	p.R422W	DHX30_uc003crt.2_Missense_Mutation_p.R383W	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	422						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGAACTGTGGCGGCGGCGAGG	0.632												
CELSR3	1951	broad.mit.edu	37	3	48694142	48694142	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:48694142G>A	uc003cul.2	-	2	4669	c.4388C>T	c.(4387-4389)CCG>CTG	p.P1463L	CELSR3_uc003cuf.1_Missense_Mutation_p.P1533L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1463	Extracellular (Potential).|EGF-like 2; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTGAAGCGCGGGCGGCAGAC	0.687												
P4HTM	54681	broad.mit.edu	37	3	49042356	49042356	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:49042356T>C	uc003cvg.2	+	6	1299	c.950T>C	c.(949-951)GTT>GCT	p.V317A	P4HTM_uc003cvh.2_Missense_Mutation_p.V317A|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	317	Lumenal (Potential).|Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	CTGCAGGTTGTTCGATATGGT	0.637												
P4HTM	54681	broad.mit.edu	37	3	49042445	49042445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:49042445G>A	uc003cvg.2	+	6	1388	c.1039G>A	c.(1039-1041)GCC>ACC	p.A347T	P4HTM_uc003cvh.2_Missense_Mutation_p.A347T|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	347	Lumenal (Potential).|Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			skin(1)|pancreas(1)	2					Vitamin C(DB00126)	CAAGCTGGTAGCCAACGAGTC	0.587												
MST1	4485	broad.mit.edu	37	3	49724649	49724649	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:49724649A>G	uc003cxg.2	-	5	612	c.540T>C	c.(538-540)GGT>GGC	p.G180G	MST1_uc011bcs.1_Silent_p.G180G|MST1_uc010hkx.2_Silent_p.G101G|MST1_uc011bct.1_Silent_p.G180G|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	166	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGCACCAAGGACCTCCGGGGT	0.612												
UBA7	7318	broad.mit.edu	37	3	49846865	49846865	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:49846865A>G	uc003cxr.2	-	17	2292	c.2121T>C	c.(2119-2121)GGT>GGC	p.G707G		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	707					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACTGTTTGGGACCTGACCAGA	0.572												
RASSF1	11186	broad.mit.edu	37	3	50368024	50368024	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:50368024G>A	uc003dad.1	-	6	1154	c.1023C>T	c.(1021-1023)TGC>TGT	p.C341C	TUSC2_uc003czy.1_5'Flank|TUSC2_uc003czz.1_5'Flank|RASSF1_uc003daa.1_Silent_p.C186C|RASSF1_uc003dab.1_Silent_p.C267C|RASSF1_uc003dac.2_Silent_p.C186C|RASSF1_uc003dae.1_Silent_p.C337C|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Silent_p.C186C	NM_170714	NP_733832	Q9NS23	RASF1_HUMAN	Ras association domain family 1 isoform D	341	SARAH.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACCCAAGGGGGCAGGCGTGCA	0.632												
PARP3	10039	broad.mit.edu	37	3	51978458	51978458	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:51978458A>G	uc003dby.2	+	4	736	c.365A>G	c.(364-366)AAG>AGG	p.K122R	RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Missense_Mutation_p.K129R	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	122					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAAGATGCAAAGAAGGACTTT	0.507												
DNAH1	25981	broad.mit.edu	37	3	52433185	52433185	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:52433185A>G	uc011bef.1	+	76	12670	c.12409A>G	c.(12409-12411)ATC>GTC	p.I4137V	DNAH1_uc003ddv.2_Missense_Mutation_p.I995V	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4202					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAATTTGTCATCTCCATTGA	0.532												
NT5DC2	64943	broad.mit.edu	37	3	52561640	52561640	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:52561640G>A	uc003deo.2	-	9	1343	c.919C>T	c.(919-921)CGG>TGG	p.R307W	NT5DC2_uc003dem.2_Missense_Mutation_p.R177W|NT5DC2_uc003den.2_Missense_Mutation_p.R344W|NT5DC2_uc010hmi.2_Missense_Mutation_p.R319W|NT5DC2_uc010hmj.2_Missense_Mutation_p.R123W	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	307							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)		TACTTGCGCCGGTCAGTGAAG	0.617												
RFT1	91869	broad.mit.edu	37	3	53145912	53145912	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:53145912A>C	uc003dgj.2	-	7	763	c.709T>G	c.(709-711)TGG>GGG	p.W237G	RFT1_uc003dgk.2_Missense_Mutation_p.W198G	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	RFT1 homolog	237					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GCCTCTTTCCAGTTTATAAAC	0.398												
LRIG1	26018	broad.mit.edu	37	3	66467669	66467669	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:66467669G>A	uc003dmx.2	-	4	401	c.387C>T	c.(385-387)AGC>AGT	p.S129S	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Silent_p.S129S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	129	Extracellular (Potential).|LRR 3.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCCCTCCACGCTGCGAATCT	0.488												
ROBO1	6091	broad.mit.edu	37	3	78766489	78766489	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:78766489C>T	uc003dqe.2	-	7	1061	c.853G>A	c.(853-855)GCC>ACC	p.A285T	ROBO1_uc003dqb.2_Missense_Mutation_p.A246T|ROBO1_uc003dqc.2_Missense_Mutation_p.A246T|ROBO1_uc003dqd.2_Missense_Mutation_p.A246T|ROBO1_uc003dqf.1_5'Flank	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	285	Extracellular (Potential).|Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCACCTCGGGCCTCACATTTA	0.423												
FILIP1L	11259	broad.mit.edu	37	3	99568802	99568802	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:99568802G>A	uc003dtm.2	-	5	2181	c.1718C>T	c.(1717-1719)GCG>GTG	p.A573V	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.A573V|FILIP1L_uc010hpf.2_Missense_Mutation_p.A149V|FILIP1L_uc010hpg.2_Missense_Mutation_p.A333V|FILIP1L_uc003dtn.2_Missense_Mutation_p.A333V|FILIP1L_uc003dtp.1_Missense_Mutation_p.A333V	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	573	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						CTCTTCTTCCGCTTTCAATTT	0.348												
FILIP1L	11259	broad.mit.edu	37	3	99569758	99569758	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:99569758G>T	uc003dtm.2	-	5	1225	c.762C>A	c.(760-762)ACC>ACA	p.T254T	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Silent_p.T254T|FILIP1L_uc010hpf.2_Intron|FILIP1L_uc010hpg.2_Silent_p.T14T|FILIP1L_uc003dtn.2_Silent_p.T14T|FILIP1L_uc003dtp.1_Silent_p.T14T	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	254	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						GTCTTTGAAGGGTGAGCTGTG	0.493												
RPL24	6152	broad.mit.edu	37	3	101399981	101399981	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:101399981A>G	uc003dvh.1	-	6	515	c.472T>C	c.(472-474)TAA>CAA	p.*158Q	RPL24_uc003dvi.1_3'UTR	NM_000986	NP_000977	P83731	RL24_HUMAN	ribosomal protein L24	158					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						CTGCCAGTTTAGCGTTTTCCA	0.378												
CCDC37	348807	broad.mit.edu	37	3	126137556	126137556	+	Missense_Mutation	SNP	G	G	A	rs149511023	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:126137556G>A	uc003eiu.1	+	7	688	c.589G>A	c.(589-591)GCC>ACC	p.A197T	CCDC37_uc010hsg.1_Missense_Mutation_p.A198T	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	197	Potential.									ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.166)		GGAGAAGGACGCCGCCTTGTT	0.657												
PLXNA1	5361	broad.mit.edu	37	3	126733136	126733136	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:126733136A>G	uc003ejg.2	+	11	2457	c.2453A>G	c.(2452-2454)CAC>CGC	p.H818R		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	841	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)		TCCCTGCGACACCACTGCGCT	0.706												
PLXNA1	5361	broad.mit.edu	37	3	126741635	126741635	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:126741635A>G	uc003ejg.2	+	22	4271	c.4267A>G	c.(4267-4269)ACC>GCC	p.T1423A		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1446	Cytoplasmic (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)		TAACTGGTTCACCTTCCTCTT	0.562												
RUVBL1	8607	broad.mit.edu	37	3	127783899	127783899	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:127783899C>A	uc003eke.2	-	5	668	c.404G>T	c.(403-405)GGG>GTG	p.G135V	RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekb.2_Intron|SEC61A1_uc003ekc.2_Intron|SEC61A1_uc003ekd.2_Intron|SEC61A1_uc003ekg.2_5'UTR	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	Error:Variant_position_missing_in_Q9Y265_after_alignment					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		AGATCCAACCCCAGGGAGTTT	0.493												
COPG	22820	broad.mit.edu	37	3	128979638	128979638	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:128979638G>A	uc003els.2	+	12	1216	c.1116G>A	c.(1114-1116)TCG>TCA	p.S372S	COPG_uc010htb.2_Silent_p.S278S	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	372	HEAT 4.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						CAGAAATCTCGGATGAATTCA	0.597												
PLXND1	23129	broad.mit.edu	37	3	129284282	129284282	+	Silent	SNP	C	C	T	rs138273738		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:129284282C>T	uc003emx.2	-	25	4522	c.4422G>A	c.(4420-4422)TCG>TCA	p.S1474S	PLXND1_uc011blb.1_Silent_p.S142S	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1474	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						TCTTGGCGGCCGAGGCGTCAA	0.607												
BFSP2	8419	broad.mit.edu	37	3	133185682	133185682	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:133185682A>G	uc003epn.1	+	5	1040	c.902A>G	c.(901-903)GAG>GGG	p.E301G		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	phakinin	301	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens				0						CAACAGGCGGAGGTGGCCCAC	0.577												
BFSP2	8419	broad.mit.edu	37	3	133191257	133191257	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:133191257C>T	uc003epn.1	+	6	1230	c.1092C>T	c.(1090-1092)GGC>GGT	p.G364G		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	phakinin	364	Rod.|Potential.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens				0						AGAACCTGGGCGCTGTGGTCG	0.642												
EPHB1	2047	broad.mit.edu	37	3	134960032	134960032	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:134960032G>A	uc003eqt.2	+	13	2609	c.2389G>A	c.(2389-2391)GCC>ACC	p.A797T	EPHB1_uc003equ.2_Missense_Mutation_p.A358T	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	797	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						AGAGGCCATCGCCTACCGCAA	0.522												
CHST2	9435	broad.mit.edu	37	3	142840223	142840223	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:142840223G>A	uc003evm.2	+	2	1454	c.565G>A	c.(565-567)GAG>AAG	p.E189K		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	189	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						CCAGAATCCCGAGGTGTTCTT	0.627												
TSC22D2	9819	broad.mit.edu	37	3	150128353	150128353	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:150128353G>C	uc003exv.2	+	1	1566	c.1216G>C	c.(1216-1218)GCC>CCC	p.A406P	TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Missense_Mutation_p.A406P	NM_014779	NP_055594	O75157	T22D2_HUMAN	TSC22 domain family, member 2	406							sequence-specific DNA binding transcription factor activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGCGAGCCCCGCCACGGCGGC	0.751												
SERP1	27230	broad.mit.edu	37	3	150263978	150263978	+	Translation_Start_Site	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:150263978C>A	uc003exy.2	-	1	451	c.-55G>T	c.(-57--53)GAGGC>GATGC		SERP1_uc003exz.2_RNA|EIF2A_uc003eya.2_5'Flank|EIF2A_uc003eyb.2_5'Flank|EIF2A_uc003eyc.2_5'Flank|EIF2A_uc011bnv.1_5'Flank|EIF2A_uc011bnw.1_5'Flank	NM_014445	NP_055260	Q9Y6X1	SERP1_HUMAN	stress-associated endoplasmic reticulum protein						plasma membrane organization|protein glycosylation|protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane|ribosome					0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACTCGCCTGCCTCCTCTGGAG	0.716												
GPR87	53836	broad.mit.edu	37	3	151012788	151012788	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:151012788G>A	uc003eyt.2	-	3	607	c.246C>T	c.(244-246)AAC>AAT	p.N82N	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	82	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAACCACTATGTTTTTGAGAT	0.383												
SHOX2	6474	broad.mit.edu	37	3	157815997	157815997	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:157815997G>A	uc003fbr.2	-	5	954	c.815C>T	c.(814-816)GCG>GTG	p.A272V	SHOX2_uc003fbs.2_Missense_Mutation_p.A296V|SHOX2_uc010hvw.2_Missense_Mutation_p.A260V	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	272					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CATGTAGGGCGCGTGCGCGGC	0.701												
ABCC5	10057	broad.mit.edu	37	3	183665113	183665113	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:183665113T>C	uc003fmg.2	-	23	3578	c.3413A>G	c.(3412-3414)CAG>CGG	p.Q1138R	ABCC5_uc011bqt.1_Missense_Mutation_p.Q666R|ABCC5_uc010hxl.2_Missense_Mutation_p.Q1095R	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1138	ABC transmembrane type-1 2.|Helical; (Potential).					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAGACTGACCTGGACAGCATA	0.557												
C3orf59	151963	broad.mit.edu	37	3	192516463	192516463	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:192516463G>A	uc011bsp.1	-	2	1509	c.1188C>T	c.(1186-1188)CAC>CAT	p.H396H		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	396											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)		GCTTCCGGGCGTGAAGCATGA	0.557												
ATP13A3	79572	broad.mit.edu	37	3	194158117	194158117	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:194158117A>G	uc003fty.3	-	18	2324	c.1922T>C	c.(1921-1923)GTG>GCG	p.V641A	ATP13A3_uc003ftz.1_Missense_Mutation_p.V347A	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	641					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATCCCCCAGCACCCTGGCAAC	0.468												
TNK2	10188	broad.mit.edu	37	3	195594422	195594422	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:195594422G>A	uc003fvu.1	-	12	3245	c.2702C>T	c.(2701-2703)GCC>GTC	p.A901V	TNK2_uc003fvq.1_Missense_Mutation_p.A308V|TNK2_uc003fvr.1_Missense_Mutation_p.A426V|TNK2_uc003fvs.1_Missense_Mutation_p.A933V|TNK2_uc003fvt.1_Missense_Mutation_p.A979V|TNK2_uc010hzw.1_RNA	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	901	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	ggcggcgggggctggggtgct	0.453												
SENP5	205564	broad.mit.edu	37	3	196613205	196613205	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:196613205A>G	uc003fwz.3	+	2	1402	c.1153A>G	c.(1153-1155)ATG>GTG	p.M385V	SENP5_uc011bty.1_Missense_Mutation_p.M385V	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	385					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			breast(2)|lung(1)	3	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TTCTAATACCATGTTCATTTC	0.443												
SLC26A1	10861	broad.mit.edu	37	4	985400	985400	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:985400A>G	uc003gcb.2	-	3	470	c.92T>C	c.(91-93)CTG>CCG	p.L31P	SLC26A1_uc003gbx.2_Missense_Mutation_p.L31P|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Missense_Mutation_p.L31P	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	31						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCTGGCCTTCAGCATCTCACG	0.711												
FGFRL1	53834	broad.mit.edu	37	4	1018157	1018157	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:1018157C>T	uc003gce.2	+	6	938	c.777C>T	c.(775-777)GAC>GAT	p.D259D	FGFRL1_uc003gcf.2_Silent_p.D259D|FGFRL1_uc003gcg.2_Silent_p.D259D|FGFRL1_uc010ibo.2_Silent_p.D259D	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	259	Ig-like C2-type 3.|Extracellular (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGACGGTGGACTTCGGGGGGA	0.697												
MAEA	10296	broad.mit.edu	37	4	1316173	1316173	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:1316173T>C	uc003gda.2	+	4	491	c.461T>C	c.(460-462)CTA>CCA	p.L154P	MAEA_uc010ibs.1_Intron|MAEA_uc003gdb.2_Intron|MAEA_uc011bvb.1_Missense_Mutation_p.L86P|MAEA_uc003gdc.2_Intron|MAEA_uc003gdd.2_Intron|MAEA_uc011bvc.1_Missense_Mutation_p.L153P|MAEA_uc011bvd.1_Missense_Mutation_p.L106P|MAEA_uc010ibt.2_Intron	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	154					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			TCTAAGGACCTAGTGAATATT	0.602												
WHSC1	7468	broad.mit.edu	37	4	1932443	1932443	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:1932443C>T	uc003gdz.3	+	6	1677	c.1501C>T	c.(1501-1503)CGC>TGC	p.R501C	WHSC1_uc003geb.3_Missense_Mutation_p.R501C|WHSC1_uc003gec.3_Missense_Mutation_p.R501C|WHSC1_uc003ged.3_Missense_Mutation_p.R501C|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdy.1_Missense_Mutation_p.R501C|WHSC1_uc010icd.1_Missense_Mutation_p.R501C|WHSC1_uc003gea.1_Missense_Mutation_p.R501C|WHSC1_uc010ice.1_Missense_Mutation_p.R501C|WHSC1_uc003geh.1_Missense_Mutation_p.R501C	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	501	HMG box.				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)		GCAGAGAGCACGCTACAACAC	0.532			T	IGH@	MM							
POLN	353497	broad.mit.edu	37	4	2178053	2178053	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:2178053A>G	uc003ger.2	-	7	1188	c.1188T>C	c.(1186-1188)AAT>AAC	p.N396N	POLN_uc010ich.1_Intron|POLN_uc011bvi.1_Silent_p.N396N	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	396					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)			TCTCACGTACATTCTGATTCT	0.373								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
SH3BP2	6452	broad.mit.edu	37	4	2822459	2822459	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:2822459A>G	uc003gfi.3	+	2	235	c.115A>G	c.(115-117)ACC>GCC	p.T39A	SH3BP2_uc010icn.2_Missense_Mutation_p.T39A|SH3BP2_uc011bvp.1_Missense_Mutation_p.T67A|SH3BP2_uc003gfj.3_Missense_Mutation_p.T96A|SH3BP2_uc003gfk.3_Missense_Mutation_p.T39A|SH3BP2_uc003gfl.3_5'UTR	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	39	PH.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GAAGGGCGGTACCCAGCTGCA	0.597									Cherubism			
SH3BP2	6452	broad.mit.edu	37	4	2828969	2828969	+	Silent	SNP	G	G	A	rs145235325	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:2828969G>A	uc003gfi.3	+	6	561	c.441G>A	c.(439-441)TCG>TCA	p.S147S	SH3BP2_uc011bvp.1_Silent_p.S175S|SH3BP2_uc003gfj.3_Silent_p.S204S|SH3BP2_uc003gfk.3_Silent_p.S147S|SH3BP2_uc003gfl.3_Silent_p.S80S|SH3BP2_uc003gfm.3_Silent_p.S122S	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a	147					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACTCCAGCTCGGACACAGACA	0.532									Cherubism			
HTT	3064	broad.mit.edu	37	4	3219640	3219640	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:3219640C>T	uc011bvq.1	+	53	7354	c.7209C>T	c.(7207-7209)CGC>CGT	p.R2403R		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2401	Nuclear export signal (By similarity).				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCCTGGCCCGCCTGCCCCTTG	0.582												
RGS12	6002	broad.mit.edu	37	4	3417718	3417718	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:3417718C>T	uc003ggw.2	+	7	3201	c.2297C>T	c.(2296-2298)GCC>GTC	p.A766V	RGS12_uc003ggu.2_Missense_Mutation_p.A766V|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.A766V|RGS12_uc003ggy.1_Missense_Mutation_p.A164V|RGS12_uc010ict.1_Missense_Mutation_p.A118V|RGS12_uc003ggz.2_Missense_Mutation_p.A118V|RGS12_uc010icu.1_5'UTR|RGS12_uc011bvs.1_Missense_Mutation_p.A108V|RGS12_uc003gha.2_Missense_Mutation_p.A108V|RGS12_uc010icv.2_5'UTR|RGS12_uc003ghb.2_5'UTR	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	766	RGS.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCTACAGGGCCCGGGAGATT	0.637												
LYAR	55646	broad.mit.edu	37	4	4285410	4285410	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:4285410C>A	uc011bvy.1	-	3	203	c.60G>T	c.(58-60)AAG>AAT	p.K20N	LYAR_uc003ght.2_Missense_Mutation_p.K20N	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive homolog	20	C2HC-type 1.					nucleolus	metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGACACATGCTTTTCCACTT	0.358												
AFAP1	60312	broad.mit.edu	37	4	7844918	7844918	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:7844918C>T	uc003gkg.1	-	5	767	c.494G>A	c.(493-495)CGG>CAG	p.R165Q	AFAP1_uc011bwk.1_Missense_Mutation_p.R165Q	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	165	PH 1.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						CTGGCCGAACCGCTTCTTCCG	0.547												
ABLIM2	84448	broad.mit.edu	37	4	8037891	8037891	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:8037891C>T	uc003gko.2	-	10	1175	c.1032G>A	c.(1030-1032)AGG>AGA	p.R344R	ABLIM2_uc003gkl.2_Silent_p.R94R|ABLIM2_uc003gkj.3_Silent_p.R344R|ABLIM2_uc003gkm.3_Silent_p.R344R|ABLIM2_uc003gkp.2_Silent_p.R344R|ABLIM2_uc003gkq.2_Silent_p.R344R|ABLIM2_uc003gkr.2_Silent_p.R344R|ABLIM2_uc003gks.3_Silent_p.R344R|ABLIM2_uc011bwl.1_Silent_p.R349R	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	344					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						CGTAGCTCTGCCTGTCCCCTG	0.597												
ABLIM2	84448	broad.mit.edu	37	4	8098904	8098904	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:8098904T>C	uc003gko.2	-	3	403	c.260A>G	c.(259-261)GAC>GGC	p.D87G	ABLIM2_uc003gkj.3_Missense_Mutation_p.D87G|ABLIM2_uc003gkm.3_Missense_Mutation_p.D87G|ABLIM2_uc003gkp.2_Missense_Mutation_p.D87G|ABLIM2_uc003gkq.2_Missense_Mutation_p.D87G|ABLIM2_uc003gkr.2_Missense_Mutation_p.D87G|ABLIM2_uc003gks.3_Missense_Mutation_p.D87G|ABLIM2_uc011bwl.1_Missense_Mutation_p.D92G	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	87	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						AATGAACTGGTCGCAGCTGAA	0.657												
SH3TC1	54436	broad.mit.edu	37	4	8229582	8229582	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:8229582T>C	uc003gkv.3	+	12	2262	c.2161T>C	c.(2161-2163)TGC>CGC	p.C721R	SH3TC1_uc003gkw.3_Missense_Mutation_p.C645R|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	721							binding			large_intestine(2)|pancreas(1)	3						CAGCCGCAAGTGCCTGCCCCA	0.642												
GPR78	27201	broad.mit.edu	37	4	8588806	8588806	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:8588806A>G	uc003glk.2	+	3	1227	c.808A>G	c.(808-810)ACC>GCC	p.T270A	CPZ_uc003gll.2_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	270	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6						GCCCTTCGTCACCGTGAACGC	0.662												
FBXL5	26234	broad.mit.edu	37	4	15642491	15642491	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:15642491A>G	uc003goc.1	-	3	419	c.316T>C	c.(316-318)TTA>CTA	p.L106L	FBXL5_uc010idw.1_Intron|FBXL5_uc003gob.1_5'UTR|FBXL5_uc010idx.1_Silent_p.L106L|FBXL5_uc003god.1_Silent_p.L89L|FBXL5_uc010idy.1_Silent_p.L106L	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	106	Hemerythrin-like.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0						GCATAATTTAACTGTTCATAT	0.308												
CCKAR	886	broad.mit.edu	37	4	26483534	26483534	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:26483534T>C	uc003gse.1	-	5	1166	c.1013A>G	c.(1012-1014)TAC>TGC	p.Y338C		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	338	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	GGCGGTGTCGTAGGCCCGCCA	0.602												
CCKAR	886	broad.mit.edu	37	4	26487447	26487447	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:26487447G>A	uc003gse.1	-	3	591	c.438C>T	c.(436-438)CCC>CCT	p.P146P		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	146	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	GGGACTGTAAGGGTTTGCAAA	0.468												
TBC1D1	23216	broad.mit.edu	37	4	38022259	38022259	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:38022259C>T	uc003gtb.2	+	5	1363	c.1020C>T	c.(1018-1020)TCC>TCT	p.S340S	TBC1D1_uc011byd.1_Silent_p.S340S|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.S211S	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	340	PID.					nucleus	Rab GTPase activator activity			ovary(1)	1						GGGAGTCTTCCGGAGGTGGCG	0.493												
KLB	152831	broad.mit.edu	37	4	39450263	39450263	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:39450263T>C	uc003gua.2	+	5	3189	c.3092T>C	c.(3091-3093)TTA>TCA	p.L1031S	KLB_uc011byj.1_Missense_Mutation_p.L1022S	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	1031	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						GCAAAAAACTTACAACACATA	0.373												
TEC	7006	broad.mit.edu	37	4	48169970	48169970	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:48169970G>A	uc003gxz.2	-	7	587	c.496C>T	c.(496-498)CGA>TGA	p.R166*		NM_003215	NP_003206	P42680	TEC_HUMAN	tec protein tyrosine kinase	166					intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R166G(1)		lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						GGAGGCCTTCGCTAGACAAGG	0.378												
EPHA5	2044	broad.mit.edu	37	4	66230798	66230798	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:66230798C>T	uc003hcy.2	-	12	2366	c.2173G>A	c.(2173-2175)GCA>ACA	p.A725T	EPHA5_uc003hcx.2_Missense_Mutation_p.A657T|EPHA5_uc003hcz.2_Missense_Mutation_p.A703T|EPHA5_uc011cah.1_Missense_Mutation_p.A726T|EPHA5_uc011cai.1_Missense_Mutation_p.A704T|EPHA5_uc003hda.2_Missense_Mutation_p.A726T	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	725	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						ATGATACTTGCTTCACCTAGG	0.388										TSP Lung(17;0.13)		
PARM1	25849	broad.mit.edu	37	4	75937954	75937954	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:75937954G>A	uc003hih.1	+	2	603	c.363G>A	c.(361-363)ACG>ACA	p.T121T		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	prostatic androgen-repressed message-1	121	Extracellular (Potential).				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				ovary(1)	1						TAACAACCACGTTGGAGGAAC	0.582												
SHROOM3	57619	broad.mit.edu	37	4	77675534	77675534	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:77675534G>A	uc011cbx.1	+	7	4851	c.3898G>A	c.(3898-3900)GGT>AGT	p.G1300S	SHROOM3_uc003hkg.2_Missense_Mutation_p.G1078S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1300					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			CCCTCGTTGGGGTGGTTCAGG	0.562												
PLAC8	51316	broad.mit.edu	37	4	84026148	84026148	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:84026148C>T	uc003hoe.2	-	3	305	c.144G>A	c.(142-144)CCG>CCA	p.P48P	PLAC8_uc011cco.1_Silent_p.P48P|PLAC8_uc010ijy.2_RNA|PLAC8_uc010ijz.2_Intron|PLAC8_uc003hod.2_Silent_p.P48P	NM_001130716	NP_001124188	Q9NZF1	PLAC8_HUMAN	placenta-specific 8	48										ovary(1)	1		Hepatocellular(203;0.114)				ACCCAAGGCACGGGAAACAAA	0.498												
WDFY3	23001	broad.mit.edu	37	4	85750185	85750185	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:85750185A>G	uc003hpd.2	-	9	1336	c.928T>C	c.(928-930)TAT>CAT	p.Y310H	WDFY3_uc003hpf.2_Missense_Mutation_p.Y310H	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	310						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAAAATTATATCCTTGCCAT	0.343												
MEPE	56955	broad.mit.edu	37	4	88766641	88766641	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:88766641A>G	uc003hqy.2	+	4	660	c.621A>G	c.(619-621)CCA>CCG	p.P207P	MEPE_uc010ikn.2_Silent_p.P94P	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	207					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)|skin(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAAAAGTCCAGTAAAAAGCA	0.388												
HERC5	51191	broad.mit.edu	37	4	89415439	89415439	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:89415439C>T	uc003hrt.2	+	18	2554	c.2401C>T	c.(2401-2403)CCA>TCA	p.P801S	HERC5_uc011cdm.1_Missense_Mutation_p.P439S	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	801	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GGACCAAATGCCATCATTGGA	0.393												
GRID2	2895	broad.mit.edu	37	4	94693552	94693552	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:94693552G>T	uc011cdt.1	+	16	3185	c.2927G>T	c.(2926-2928)AGG>ATG	p.R976M	GRID2_uc011cdu.1_Missense_Mutation_p.R881M	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	976	Cytoplasmic (Potential).|Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGCTTTTTCAGGAGTCCTATA	0.493												
MTTP	4547	broad.mit.edu	37	4	100540226	100540226	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:100540226T>C	uc003hvc.3	+	17	2569	c.2313T>C	c.(2311-2313)TAT>TAC	p.Y771Y	MTTP_uc011cej.1_Silent_p.Y798Y	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	771					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GCTTGTGGTATCGTGAGTCTA	0.353												
PPA2	27068	broad.mit.edu	37	4	106345393	106345393	+	Silent	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:106345393A>T	uc003hxl.2	-	7	635	c.615T>A	c.(613-615)ATT>ATA	p.I205I	PPA2_uc003hxm.2_Silent_p.I187I|PPA2_uc003hxn.2_Silent_p.I176I|PPA2_uc003hxo.2_Silent_p.I103I|PPA2_uc003hxp.2_Intron|PPA2_uc003hxq.2_Silent_p.I112I|PPA2_uc003hxr.2_Silent_p.I112I|PPA2_uc011cfa.1_Silent_p.I112I	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	inorganic pyrophosphatase 2 isoform 1 precursor	205					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)		CATTGATAGCAATTAATTTCC	0.338												
PPA2	27068	broad.mit.edu	37	4	106345398	106345398	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:106345398A>T	uc003hxl.2	-	7	630	c.610T>A	c.(610-612)TTA>ATA	p.L204I	PPA2_uc003hxm.2_Missense_Mutation_p.L186I|PPA2_uc003hxn.2_Missense_Mutation_p.L175I|PPA2_uc003hxo.2_Missense_Mutation_p.L102I|PPA2_uc003hxp.2_Intron|PPA2_uc003hxq.2_Missense_Mutation_p.L111I|PPA2_uc003hxr.2_Missense_Mutation_p.L111I|PPA2_uc011cfa.1_Missense_Mutation_p.L111I	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	inorganic pyrophosphatase 2 isoform 1 precursor	204					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)		ATAGCAATTAATTTCCAATCT	0.333												
SEC24B	10427	broad.mit.edu	37	4	110448544	110448544	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:110448544C>T	uc003hzk.2	+	18	3087	c.3032C>T	c.(3031-3033)GCG>GTG	p.A1011V	SEC24B_uc003hzl.2_Missense_Mutation_p.A976V|SEC24B_uc011cfp.1_Missense_Mutation_p.A1041V|SEC24B_uc011cfq.1_Missense_Mutation_p.A1010V|SEC24B_uc011cfr.1_Missense_Mutation_p.A975V	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	1011					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GATGTATATGCGGGAGTGGAT	0.368												
EGF	1950	broad.mit.edu	37	4	110915959	110915959	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:110915959T>C	uc003hzy.3	+	20	3380	c.2928T>C	c.(2926-2928)TGT>TGC	p.C976C	EGF_uc011cfu.1_Silent_p.C934C|EGF_uc011cfv.1_Silent_p.C935C|EGF_uc010imk.2_Silent_p.C124C	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	976	EGF-like 9.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ACTCTGAATGTCCCCTGTCCC	0.443												
ANK2	287	broad.mit.edu	37	4	114254212	114254212	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:114254212C>A	uc003ibe.3	+	29	3327	c.3227C>A	c.(3226-3228)CCT>CAT	p.P1076H	ANK2_uc003ibd.3_Missense_Mutation_p.P1067H|ANK2_uc003ibf.3_Missense_Mutation_p.P1076H|ANK2_uc011cgc.1_Missense_Mutation_p.P252H|ANK2_uc003ibg.3_Missense_Mutation_p.P71H|ANK2_uc003ibc.2_Missense_Mutation_p.P1052H|ANK2_uc011cgb.1_Missense_Mutation_p.P1091H	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1043	ZU5.|Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TATGTCAGGCCTGTGATCGTG	0.507												
UGT8	7368	broad.mit.edu	37	4	115597177	115597177	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:115597177T>C	uc003ibs.2	+	6	1881	c.1359T>C	c.(1357-1359)CGT>CGC	p.R453R	UGT8_uc003ibt.2_Silent_p.R453R|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	453					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		ATATTATTCGTCACAATGGAG	0.443												
PRDM5	11107	broad.mit.edu	37	4	121843735	121843735	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:121843735A>G	uc003idn.2	-	1	279	c.29T>C	c.(28-30)TTC>TCC	p.F10S	PRDM5_uc003ido.2_Missense_Mutation_p.F10S|PRDM5_uc010ine.2_Missense_Mutation_p.F10S|PRDM5_uc010inf.2_Missense_Mutation_p.F10S|PRDM5_uc003idp.1_Missense_Mutation_p.F10S	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	10	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						CTTCAGGGAGAACCTGTCCGG	0.587												
BBS12	166379	broad.mit.edu	37	4	123664360	123664360	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:123664360A>G	uc003ieu.2	+	2	1506	c.1313A>G	c.(1312-1314)AAT>AGT	p.N438S		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	438					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						GGCTCAGTGAATGGCAGTGTG	0.483									Bardet-Biedl_syndrome			
MAB21L2	10586	broad.mit.edu	37	4	151504409	151504409	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:151504409G>T	uc003ilw.2	+	1	1333	c.228G>T	c.(226-228)GTG>GTT	p.V76V	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	76					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		AATTTGAGGTGGTGCTCTACC	0.607												
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			Mis|N|D|F		colorectal|endometrial|T-ALL							
TRIM2	23321	broad.mit.edu	37	4	154216859	154216859	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:154216859C>T	uc003ing.2	+	6	1301	c.1100C>T	c.(1099-1101)GCC>GTC	p.A367V	TRIM2_uc003inh.2_Missense_Mutation_p.A394V	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	367	Filamin.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TACCTCACCGCCGAACTGAGC	0.602												
PDGFC	56034	broad.mit.edu	37	4	157688944	157688944	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:157688944A>G	uc003iph.1	-	5	1393	c.902T>C	c.(901-903)GTT>GCT	p.V301A	PDGFC_uc003ipi.1_Missense_Mutation_p.V138A|PDGFC_uc011cis.1_Missense_Mutation_p.V138A|PDGFC_uc011cir.1_Missense_Mutation_p.V145A	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	301					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TTTTTTAGTAACTTTGCTTGG	0.398												
FAM198B	51313	broad.mit.edu	37	4	159092074	159092074	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:159092074G>A	uc003ipp.3	-	2	906	c.454C>T	c.(454-456)CCG>TCG	p.P152S	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.P152S|FAM198B_uc003ipr.3_Missense_Mutation_p.P152S|FAM198B_uc003ips.2_Missense_Mutation_p.P152S|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	152	Extracellular (Potential).					Golgi membrane|integral to membrane					0						GCTTCCTGCGGCTGAAGGGAT	0.617												
NPY5R	4889	broad.mit.edu	37	4	164271917	164271917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:164271917G>A	uc003iqn.2	+	4	674	c.492G>A	c.(490-492)TGG>TGA	p.W164*		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	164	Helical; Name=4; (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				CTACTGTCTGGACACTAGGTT	0.378												
TLL1	7092	broad.mit.edu	37	4	167022027	167022027	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:167022027A>G	uc003irh.1	+	21	3688	c.3041A>G	c.(3040-3042)TAA>TGA	p.*1014*	TLL1_uc011cjn.1_Silent_p.*1037*|TLL1_uc011cjo.1_Silent_p.*838*	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	1014					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACCAAAAAATAACACCAAAAC	0.313												
ODZ3	55714	broad.mit.edu	37	4	183710387	183710387	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:183710387C>T	uc003ivd.1	+	24	5483	c.5446C>T	c.(5446-5448)CTG>TTG	p.L1816L		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1816	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AAGCAGCAAGCTGATGGCCGT	0.512												
ODZ3	55714	broad.mit.edu	37	4	183721042	183721042	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:183721042G>A	uc003ivd.1	+	27	7675	c.7638G>A	c.(7636-7638)ACG>ACA	p.T2546T		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2546	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCAAGGACACGCACTACTTCA	0.612												
C4orf41	60684	broad.mit.edu	37	4	184614279	184614279	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:184614279T>C	uc003ivx.2	+	20	2392	c.2216T>C	c.(2215-2217)ATT>ACT	p.I739T	C4orf41_uc003ivw.2_Missense_Mutation_p.I739T|C4orf41_uc010isc.2_Missense_Mutation_p.I83T|C4orf41_uc003ivy.2_Missense_Mutation_p.I345T	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	739				Missing (in Ref. 3; BAB14556).							0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		TGGGACAGCATTATAATTCAG	0.378												
CASP3	836	broad.mit.edu	37	4	185552304	185552304	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:185552304C>T	uc003iwh.2	-	7	754	c.491G>A	c.(490-492)CGT>CAT	p.R164H	CASP3_uc003iwg.2_Intron|CASP3_uc003iwi.2_Missense_Mutation_p.R164H	NM_004346	NP_004337	P42574	CASP3_HUMAN	caspase 3 preproprotein	164					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			kidney(1)	1		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	TTCTGTACCACGGCAGGCCTG	0.373												
SLC6A19	340024	broad.mit.edu	37	5	1212549	1212549	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:1212549T>C	uc003jbw.3	+	4	669	c.613T>C	c.(613-615)TGG>CGG	p.W205R		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	205	Helical; Name=4; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCCTGCGCATGGAGCGTCCT	0.642												
LPCAT1	79888	broad.mit.edu	37	5	1463936	1463936	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:1463936A>G	uc003jcm.2	-	14	1552	c.1435T>C	c.(1435-1437)TTT>CTT	p.F479L	LPCAT1_uc003jcl.2_Missense_Mutation_p.F53L	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	479	Lumenal (Potential).|EF-hand 2.				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ATTTCTGCAAACCTGTGGAAG	0.532												
IRX2	153572	broad.mit.edu	37	5	2748625	2748625	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:2748625G>A	uc003jda.2	-	3	1439	c.1197C>T	c.(1195-1197)AAC>AAT	p.N399N	IRX2_uc003jdb.2_Silent_p.N399N	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	399						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		GCAGCGCCGCGTTCAAGTTCC	0.711												
SEMA5A	9037	broad.mit.edu	37	5	9154802	9154802	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:9154802C>T	uc003jek.2	-	12	1991	c.1279G>A	c.(1279-1281)GGA>AGA	p.G427R		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	427	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TTAATGGTTCCGTAATCTATG	0.498												
CDH10	1008	broad.mit.edu	37	5	24487830	24487830	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:24487830G>C	uc003jgr.1	-	12	2641	c.2309C>G	c.(2308-2310)CCT>CGT	p.P770R	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	770	Cytoplasmic (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)		ATTAAACCGAGGGCCCCATTC	0.408										HNSCC(23;0.051)		
CDH10	1008	broad.mit.edu	37	5	24492959	24492959	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:24492959C>T	uc003jgr.1	-	10	1923	c.1591G>A	c.(1591-1593)GTC>ATC	p.V531I	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	531	Cadherin 5.|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)		TTTGGATTGACAGCAGCTAAA	0.338										HNSCC(23;0.051)		
CDH6	1004	broad.mit.edu	37	5	31313439	31313439	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:31313439G>A	uc003jhe.1	+	8	1594	c.1268G>A	c.(1267-1269)CGA>CAA	p.R423Q	CDH6_uc003jhd.1_Missense_Mutation_p.R423Q	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	423	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						TCTGTAGATCGACACACAGAT	0.363												
C5orf22	55322	broad.mit.edu	37	5	31534463	31534463	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:31534463G>T	uc003jhj.3	+	2	293	c.166G>T	c.(166-168)GAC>TAC	p.D56Y	RNASEN_uc003jhh.2_5'Flank|RNASEN_uc003jhg.2_5'Flank|RNASEN_uc003jhi.2_5'Flank|C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	56										ovary(2)	2						CTCACATCCAGACCTCCTTAT	0.398												
ADAMTS12	81792	broad.mit.edu	37	5	33881309	33881309	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:33881309G>A	uc003jia.1	-	2	567	c.404C>T	c.(403-405)TCT>TTT	p.S135F	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S135F|ADAMTS12_uc003jib.1_Missense_Mutation_p.S135F	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	135					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GAGGGGGGCAGAGGAAGCCAT	0.522										HNSCC(64;0.19)		
RAI14	26064	broad.mit.edu	37	5	34823885	34823885	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:34823885C>T	uc003jir.2	+	15	2134	c.1938C>T	c.(1936-1938)AGC>AGT	p.S646S	RAI14_uc010iur.2_Silent_p.S617S|RAI14_uc011coj.1_Silent_p.S646S|RAI14_uc003jis.2_Silent_p.S649S|RAI14_uc003jit.2_Silent_p.S646S|RAI14_uc011cok.1_Silent_p.S638S	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	646	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					AACAGGTGAGCGAGCTGTCAC	0.443												
NIPBL	25836	broad.mit.edu	37	5	37027460	37027460	+	Splice_Site	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:37027460G>T	uc003jkl.3	+	32	6308	c.5809_splice	c.e32-1	p.V1937_splice	NIPBL_uc003jkk.3_Splice_Site_p.V1937_splice	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A						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)			ATCACCCTTAGGTTGCAGCAT	0.323												
NUP155	9631	broad.mit.edu	37	5	37309266	37309266	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:37309266A>G	uc003jku.1	-	24	2850	c.2732T>C	c.(2731-2733)GTG>GCG	p.V911A	NUP155_uc003jkt.1_Missense_Mutation_p.V852A|NUP155_uc010iuz.1_Missense_Mutation_p.V847A	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	911					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAAGGTCCACTTGATTGCT	0.328												
DAB2	1601	broad.mit.edu	37	5	39376883	39376883	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:39376883C>T	uc003jlx.2	-	12	2537	c.2006G>A	c.(2005-2007)CGG>CAG	p.R669Q	DAB2_uc003jlw.2_Missense_Mutation_p.R648Q	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	669	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			CTCTCCCTTCCGCGCGGGCAC	0.498											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NNT	23530	broad.mit.edu	37	5	43653189	43653189	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:43653189C>T	uc003joe.2	+	14	2188	c.1933C>T	c.(1933-1935)CGT>TGT	p.R645C	NNT_uc003jof.2_Missense_Mutation_p.R645C	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	645					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGGAACAGCACGTCTTGGCAA	0.542												
ADAMTS6	11174	broad.mit.edu	37	5	64510656	64510656	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:64510656T>C	uc003jtp.2	-	20	3354	c.2540A>G	c.(2539-2541)CAG>CGG	p.Q847R	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.Q468R	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	847	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TGACCAAGGCTGATGATTCCA	0.458												
TMEM171	134285	broad.mit.edu	37	5	72424344	72424344	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:72424344T>A	uc003kcm.2	+	3	972	c.768T>A	c.(766-768)AGT>AGA	p.S256R	TMEM171_uc003kcn.3_Missense_Mutation_p.S256R	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	256						integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		CATATTACAGTATTTTCAACT	0.448												
GFM2	84340	broad.mit.edu	37	5	74028896	74028896	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:74028896T>C	uc003kdh.1	-	16	1842	c.1538A>G	c.(1537-1539)CAG>CGG	p.Q513R	GFM2_uc003kdi.1_Missense_Mutation_p.Q466R|GFM2_uc010izj.1_Missense_Mutation_p.Q545R|GFM2_uc010izk.1_RNA	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	513					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		ATCTTCACGCTGAAGACATTT	0.289												
COL4A3BP	10087	broad.mit.edu	37	5	74712780	74712780	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:74712780G>A	uc011csu.1	-	7	1180	c.758C>T	c.(757-759)GCT>GTT	p.A253V	COL4A3BP_uc003kds.2_Missense_Mutation_p.A253V|COL4A3BP_uc003kdt.2_Missense_Mutation_p.A381V|COL4A3BP_uc003kdu.2_Missense_Mutation_p.A253V	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	alpha 3 type IV collagen binding protein isoform	253					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			skin(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		AAGGATTCCAGCAGTAGTTGC	0.363												
IQGAP2	10788	broad.mit.edu	37	5	75954396	75954396	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:75954396A>G	uc003kek.2	+	21	2655	c.2433A>G	c.(2431-2433)GTA>GTG	p.V811V	IQGAP2_uc010izv.2_Silent_p.V364V|IQGAP2_uc011csv.1_Silent_p.V307V|IQGAP2_uc003kel.2_Silent_p.V307V	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	811					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GGGAAGAAGTAGTGACCAAGA	0.448												
CMYA5	202333	broad.mit.edu	37	5	79034641	79034641	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:79034641T>C	uc003kgc.2	+	2	10125	c.10053T>C	c.(10051-10053)CGT>CGC	p.R3351R		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3351						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCTGGAGCGTGCAGATGAAG	0.488												
GPR98	84059	broad.mit.edu	37	5	89949699	89949699	+	Silent	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:89949699C>A	uc003kju.2	+	20	4404	c.4308C>A	c.(4306-4308)ATC>ATA	p.I1436I	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1436	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)		ATGGTATAATCGAATTCTACC	0.423												
MCC	4163	broad.mit.edu	37	5	112824010	112824010	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:112824010G>A	uc003kql.3	-	1	518	c.102C>T	c.(100-102)ACC>ACT	p.T34T		NM_001085377	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 1	562					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)		CCTCCTCGCCGGTGCTGGACG	0.378												
GRAMD3	65983	broad.mit.edu	37	5	125819169	125819169	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:125819169A>T	uc003ktu.2	+	9	1180	c.750A>T	c.(748-750)GAA>GAT	p.E250D	GRAMD3_uc011cwt.1_Missense_Mutation_p.E265D|GRAMD3_uc011cwv.1_Missense_Mutation_p.E258D|GRAMD3_uc011cww.1_Missense_Mutation_p.E146D|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.E141D|GRAMD3_uc011cwz.1_Missense_Mutation_p.E234D|GRAMD3_uc011cwu.1_Missense_Mutation_p.E234D	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3 isoform 2	250										central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		TCAATGATGAATTCTCAGATC	0.438												
GRAMD3	65983	broad.mit.edu	37	5	125821457	125821457	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:125821457T>C	uc003ktu.2	+	11	1480	c.1050T>C	c.(1048-1050)TAT>TAC	p.Y350Y	GRAMD3_uc011cwt.1_Silent_p.Y365Y|GRAMD3_uc011cwv.1_Silent_p.Y358Y|GRAMD3_uc011cww.1_Silent_p.Y246Y|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Silent_p.Y241Y|GRAMD3_uc011cwz.1_Silent_p.Y334Y	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3 isoform 2	350										central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		TTATATTCTATGCAATTGTGT	0.358												
MEGF10	84466	broad.mit.edu	37	5	126783248	126783248	+	Splice_Site	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:126783248G>T	uc003kuh.3	+	22	3091	c.2729_splice	c.e22-1	p.G910_splice	MEGF10_uc003kui.3_Splice_Site_p.G910_splice	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor						cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CCTTCTTGCAGGAACCCTTCC	0.423												
CHSY3	337876	broad.mit.edu	37	5	129243911	129243911	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:129243911T>C	uc003kvd.2	+	2	944	c.944T>C	c.(943-945)ATG>ACG	p.M315T		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	315	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GGACCTGGCATGATCTTTAGC	0.502												
SEPT8	23176	broad.mit.edu	37	5	132096635	132096635	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:132096635C>T	uc003kxr.2	-	9	1383	c.1145G>A	c.(1144-1146)CGC>CAC	p.R382H	SEPT8_uc003kxs.1_Missense_Mutation_p.R382H|SEPT8_uc003kxu.2_Missense_Mutation_p.R382H|SEPT8_uc011cxi.1_Missense_Mutation_p.R380H|SEPT8_uc003kxv.2_Missense_Mutation_p.R380H|SEPT8_uc003kxt.2_Missense_Mutation_p.R322H	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	septin 8 isoform a	382	Potential.				cell cycle	septin complex	GTP binding|protein binding			ovary(2)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCCACCTTGCGCTTCTCCTC	0.627												
SEC24A	10802	broad.mit.edu	37	5	133996998	133996998	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:133996998T>C	uc003kzs.2	+	2	575	c.287T>C	c.(286-288)GTG>GCG	p.V96A	SEC24A_uc011cxu.1_5'UTR	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	96	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTAATCCAGTGACACCTTCG	0.493												
TGFBI	7045	broad.mit.edu	37	5	135382977	135382977	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:135382977C>T	uc003lbf.3	+	6	800	c.639C>T	c.(637-639)AAC>AAT	p.N213N	TGFBI_uc003lbg.3_5'UTR|TGFBI_uc003lbh.3_Silent_p.N39N|TGFBI_uc011cyb.1_Silent_p.N39N|TGFBI_uc010jed.2_5'Flank	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	213	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAACTGTGAACTGTGCCCGGC	0.522												
CDC23	8697	broad.mit.edu	37	5	137537824	137537824	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:137537824G>A	uc003lcl.2	-	4	424	c.393C>T	c.(391-393)GAC>GAT	p.D131D		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	131					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGTTTCATCGTCCTTCTTTT	0.254												
GFRA3	2676	broad.mit.edu	37	5	137610052	137610052	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:137610052A>G	uc003lcn.2	-	1	202	c.62T>C	c.(61-63)CTG>CCG	p.L21P	GFRA3_uc003lco.2_Missense_Mutation_p.L21P	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	21					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			cgacggcggcagcagcagcag	0.473												
CTNNA1	1495	broad.mit.edu	37	5	138118937	138118937	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:138118937T>C	uc003ldh.2	+	3	272	c.177T>C	c.(175-177)CAT>CAC	p.H59H	CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_5'UTR|CTNNA1_uc003ldi.2_Missense_Mutation_p.M1T|CTNNA1_uc003ldj.2_Silent_p.H59H	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	59	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	p.H59Y(1)		breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAAGGCCCATGTTTTGGCTG	0.418												
LRRTM2	26045	broad.mit.edu	37	5	138209437	138209437	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:138209437T>C	uc011cyz.1	-	2	1270	c.813A>G	c.(811-813)ACA>ACG	p.T271T	CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Silent_p.T137T|CTNNA1_uc003ldl.2_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	271	LRR 9.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTCAAACACTGTCAAGTCGA	0.423												
SLC4A9	83697	broad.mit.edu	37	5	139742537	139742537	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:139742537A>T	uc003lfm.2	+	7	955	c.920A>T	c.(919-921)GAC>GTC	p.D307V	SLC4A9_uc003lfj.2_Missense_Mutation_p.D283V|SLC4A9_uc011czg.1_Missense_Mutation_p.D283V|SLC4A9_uc003lfl.2_Missense_Mutation_p.D283V|SLC4A9_uc003lfk.2_Missense_Mutation_p.D283V	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	307	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)			AACCTTCATGACCTTCTGGCA	0.572											OREG0016461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139893056	139893056	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:139893056C>A	uc003lfs.1	+	24	4433	c.4309C>A	c.(4309-4311)CTG>ATG	p.L1437M	ANKHD1_uc003lfq.1_Missense_Mutation_p.L1456M|ANKHD1_uc003lfr.2_Missense_Mutation_p.L1437M|ANKHD1_uc003lft.1_Missense_Mutation_p.L648M|ANKHD1_uc003lfu.1_Missense_Mutation_p.L917M|ANKHD1_uc003lfv.1_Missense_Mutation_p.L514M|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.L176M|ANKHD1_uc003lfw.2_Missense_Mutation_p.L75M	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1437						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACTTGATCTGGAAAAGGT	0.284												
CD14	929	broad.mit.edu	37	5	140012551	140012551	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140012551G>C	uc003lgi.1	-	2	372	c.18C>G	c.(16-18)TGC>TGG	p.C6W	CD14_uc003lgj.1_Missense_Mutation_p.C6W	NM_000591	NP_000582	P08571	CD14_HUMAN	CD14 antigen precursor	6					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCAACAAGCAGGACGCGC	0.632												
WDR55	54853	broad.mit.edu	37	5	140044509	140044509	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140044509T>C	uc003lgr.3	+	1	126	c.12T>C	c.(10-12)ACT>ACC	p.T4T		NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	4					rRNA processing	cytoplasm|nucleolus				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCGCACTTGTGAGGAGA	0.662												
PCDHA4	56144	broad.mit.edu	37	5	140188560	140188560	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140188560G>A	uc003lhi.2	+	1	1889	c.1788G>A	c.(1786-1788)GCG>GCA	p.A596A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A596A|PCDHA4_uc011daa.1_Silent_p.A596A	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	596	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCGCGGTGGATGCTG	0.697												
PCDHA8	56140	broad.mit.edu	37	5	140221266	140221266	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140221266C>T	uc003lhs.2	+	1	360	c.360C>T	c.(358-360)GAC>GAT	p.D120D	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.D120D	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	120	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCATGTGGACGTGGAGGTGA	0.567												
PCDHA8	56140	broad.mit.edu	37	5	140221296	140221296	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140221296G>A	uc003lhs.2	+	1	390	c.390G>A	c.(388-390)CCG>CCA	p.P130P	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.P130P	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	130	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAACCCGCCAGTGTTCC	0.562												
PCDHA8	56140	broad.mit.edu	37	5	140222880	140222880	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140222880G>A	uc003lhs.2	+	1	1974	c.1974G>A	c.(1972-1974)GCG>GCA	p.A658A	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.A658A	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	658	Cadherin 6.|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)			GTGAACCTGCGCTGACCGCCA	0.652												
PCDHB3	56132	broad.mit.edu	37	5	140481379	140481379	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140481379G>A	uc003lio.2	+	1	1146	c.1146G>A	c.(1144-1146)ATG>ATA	p.M382I	uc003lin.2_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	382	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAGTGATGTGTTCCATTG	0.473												
PCDHB5	26167	broad.mit.edu	37	5	140516594	140516594	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140516594C>T	uc003liq.2	+	1	1795	c.1578C>T	c.(1576-1578)TTC>TTT	p.F526F		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	526	Extracellular (Potential).|Cadherin 5.				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)			TGCAGGCGTTCGAGTTCCGCG	0.687												
PCDHB9	56127	broad.mit.edu	37	5	140569068	140569068	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140569068C>T	uc003liw.1	+	3	2177	c.2177C>T	c.(2176-2178)TCG>TTG	p.S726L	PCDHB10_uc003lix.2_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	726	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCGCTGCTCGGTGCCCGAG	0.657												
PCDHB11	56125	broad.mit.edu	37	5	140581656	140581656	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140581656T>C	uc003liy.2	+	1	2309	c.2309T>C	c.(2308-2310)GTT>GCT	p.V770A	PCDHB11_uc011daj.1_Missense_Mutation_p.V405A	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	770	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAAAACCGGTTATCCCTAAT	0.443												
PCDHGB4	8641	broad.mit.edu	37	5	140768044	140768044	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140768044C>T	uc003lkc.1	+	1	593	c.593C>T	c.(592-594)ACA>ATA	p.T198I	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.T198I	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	198	Extracellular (Potential).|Cadherin 2.				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)			GTATTGAAGACACCTTTGGAC	0.433												
PCDHGB4	8641	broad.mit.edu	37	5	140768489	140768489	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140768489A>G	uc003lkc.1	+	1	1038	c.1038A>G	c.(1036-1038)ATA>ATG	p.I346M	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.I346M	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	346	Cadherin 4.|Extracellular (Potential).				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)			CAGAAGTGATATTCCAGTCTC	0.468												
PCDHGB5	56101	broad.mit.edu	37	5	140779134	140779134	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140779134C>T	uc003lkf.1	+	1	1440	c.1440C>T	c.(1438-1440)AAC>AAT	p.N480N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.N480N	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	480	Extracellular (Potential).|Cadherin 5.				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)			TGGGGTTGAACGGCCAAGTCT	0.597												
PCDHGA12	26025	broad.mit.edu	37	5	140812079	140812079	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140812079G>A	uc003lkt.1	+	1	1922	c.1753G>A	c.(1753-1755)GGC>AGC	p.G585S	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_uc011dba.1_Missense_Mutation_p.G585S	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	585	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGAGCCCGGCTACCTGGT	0.677												
GRXCR2	643226	broad.mit.edu	37	5	145246164	145246164	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:145246164T>G	uc003lns.1	-	2	464	c.464A>C	c.(463-465)GAG>GCG	p.E155A		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	155											0						CATCAGAGACTCTTCCTCAGC	0.443												
GRXCR2	643226	broad.mit.edu	37	5	145246209	145246209	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:145246209T>C	uc003lns.1	-	2	419	c.419A>G	c.(418-420)GAT>GGT	p.D140G		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	140											0						CCTCACAAAATCTCTCTTGTC	0.418												
TCERG1	10915	broad.mit.edu	37	5	145838519	145838519	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:145838519T>C	uc003lob.2	+	4	551	c.511T>C	c.(511-513)TCA>CCA	p.S171P	TCERG1_uc003loc.2_Missense_Mutation_p.S171P|TCERG1_uc011dbt.1_Missense_Mutation_p.S171P	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	171	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TATTCAGCAATCAGAACTGAC	0.259												
ADRB2	154	broad.mit.edu	37	5	148206692	148206692	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:148206692A>G	uc003lpr.1	+	1	537	c.298A>G	c.(298-300)ACT>GCT	p.T100A	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	100	Extracellular.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GAAAATGTGGACTTTTGGCAA	0.532												
IL17B	27190	broad.mit.edu	37	5	148754068	148754068	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:148754068C>T	uc003lqo.2	-	3	457	c.407G>A	c.(406-408)CGC>CAC	p.R136H		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	136					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	p.R136C(1)		central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCATGCTGCGGTCCTCCTG	0.692												
NDST1	3340	broad.mit.edu	37	5	149900850	149900850	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:149900850C>T	uc003lsk.3	+	2	536	c.34C>T	c.(34-36)CGG>TGG	p.R12W	NDST1_uc011dcj.1_Missense_Mutation_p.R12W|NDST1_uc003lsl.2_Missense_Mutation_p.R12W	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	12	Cytoplasmic (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGCTGTGTCGGCACGTGTC	0.642												
SYNPO	11346	broad.mit.edu	37	5	150029322	150029322	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:150029322C>T	uc003lsn.2	+	3	2591	c.2217C>T	c.(2215-2217)GTC>GTT	p.V739V	SYNPO_uc003lso.3_Silent_p.V495V|SYNPO_uc003lsp.2_Silent_p.V495V	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	739					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAATATGTCATCGAGTCTT	0.622												
SLC36A1	206358	broad.mit.edu	37	5	150867571	150867571	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:150867571T>C	uc003luc.2	+	11	1404	c.1187T>C	c.(1186-1188)CTG>CCG	p.L396P	GM2A_uc011dcs.1_Intron	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	396	Extracellular (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	ATCCCCCGCCTGGACCTGGTC	0.612												
FAT2	2196	broad.mit.edu	37	5	150945734	150945734	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:150945734T>C	uc003lue.3	-	1	2772	c.2759A>G	c.(2758-2760)GAC>GGC	p.D920G	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.D920G	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	920	Extracellular (Potential).|Cadherin 7.				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)			GGGAGAGTTGTCGTTGACATC	0.547												
KIF4B	285643	broad.mit.edu	37	5	154394309	154394309	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:154394309T>C	uc010jih.1	+	1	1050	c.890T>C	c.(889-891)CTG>CCG	p.L297P		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	297	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTCGACTGCTGCAAGATTCT	0.463												
ADAM19	8728	broad.mit.edu	37	5	156918635	156918635	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:156918635T>C	uc003lwz.2	-	18	2147	c.2083A>G	c.(2083-2085)ATG>GTG	p.M695V	ADAM19_uc003lww.1_Missense_Mutation_p.M428V|ADAM19_uc003lwy.2_Missense_Mutation_p.M294V|ADAM19_uc011ddr.1_Missense_Mutation_p.M626V	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	695	Extracellular (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)			TCAGGGGGCATAGGCCCACTG	0.637												
SOX30	11063	broad.mit.edu	37	5	157078216	157078216	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:157078216G>T	uc003lxb.1	-	1	1213	c.871C>A	c.(871-873)CTG>ATG	p.L291M	SOX30_uc003lxc.1_Missense_Mutation_p.L291M|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	291					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTGGTGTCAGGGGGACCTTG	0.547												
WWC1	23286	broad.mit.edu	37	5	167887732	167887732	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:167887732C>T	uc003lzu.2	+	20	2994	c.2901C>T	c.(2899-2901)AGC>AGT	p.S967S	WWC1_uc003lzv.2_Silent_p.S967S|WWC1_uc011den.1_Silent_p.S967S|WWC1_uc003lzw.2_Silent_p.S766S|WWC1_uc010jjf.1_Silent_p.S239S	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	967	Interaction with PRKCZ.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGCGACGCAGCGTCCGGATGA	0.517												
DOCK2	1794	broad.mit.edu	37	5	169141166	169141166	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:169141166T>C	uc003maf.2	+	18	1874	c.1794T>C	c.(1792-1794)GAT>GAC	p.D598D	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.D90D|DOCK2_uc010jjl.1_Silent_p.D116D	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	598	DHR-1.				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)			GCTCCCGGGATGTGTTCTCCA	0.502												
DOCK2	1794	broad.mit.edu	37	5	169435557	169435557	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:169435557G>A	uc003maf.2	+	31	3209	c.3129G>A	c.(3127-3129)CAG>CAA	p.Q1043Q	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.Q535Q	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1043	Interaction with CRKL.				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)			ATTCTCTGCAGCTGGAGCAGT	0.448												
LCP2	3937	broad.mit.edu	37	5	169679461	169679461	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:169679461C>T	uc003man.1	-	19	1507	c.1300G>A	c.(1300-1302)GCT>ACT	p.A434T	C5orf58_uc003mal.2_RNA|LCP2_uc011des.1_Missense_Mutation_p.A229T|LCP2_uc011det.1_Missense_Mutation_p.A263T	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	434	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CTAAGAGCAGCTTCTGCCTCT	0.333												
NPM1	4869	broad.mit.edu	37	5	170827872	170827872	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:170827872A>G	uc011dex.1	+	9	747	c.612A>G	c.(610-612)GCA>GCG	p.A204A	NPM1_uc003mbh.2_Silent_p.A204A|NPM1_uc003mbi.2_Silent_p.A204A|NPM1_uc003mbj.2_Intron	NM_002520	NP_002511	P06748	NPM_HUMAN	nucleophosmin 1 isoform 1	204					anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	haematopoietic_and_lymphoid_tissue(3109)|skin(1)	3110	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAAAAATGCACAAAAGTCAA	0.398			T|F 	ALK|RARA|MLF1	NHL|APL|AML							
NKX2-5	1482	broad.mit.edu	37	5	172660103	172660103	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:172660103C>T	uc003mcm.1	-	2	620	c.444G>A	c.(442-444)GCG>GCA	p.A148A	NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	148	Homeobox.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CATAGACCTGCGCCTGCGAGA	0.697												
CPEB4	80315	broad.mit.edu	37	5	173317507	173317507	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:173317507T>C	uc003mcs.3	+	1	2177	c.771T>C	c.(769-771)CAT>CAC	p.H257H	CPEB4_uc010jju.1_Silent_p.H257H|CPEB4_uc010jjv.2_Silent_p.H257H|CPEB4_uc011dfg.1_Silent_p.H257H|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	257							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCAGTCCCCATCCCCCACCCT	0.542												
DOK3	79930	broad.mit.edu	37	5	176931771	176931771	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:176931771G>T	uc003mhk.2	-	5	791	c.786C>A	c.(784-786)CAC>CAA	p.H262Q	DOK3_uc003mhh.3_Missense_Mutation_p.H92Q|DOK3_uc003mhi.3_Missense_Mutation_p.H206Q|DOK3_uc003mhj.3_Missense_Mutation_p.H104Q|DOK3_uc003mhl.2_Missense_Mutation_p.H206Q	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	docking protein 3 isoform 1	262	IRS-type PTB.					cytoplasm|plasma membrane	insulin receptor binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)|Epithelial(233;0.191)			TGCGCAGGAAGTGGTAGGGCC	0.682												
AGXT2L2	85007	broad.mit.edu	37	5	177651531	177651531	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:177651531C>T	uc003miz.2	-	6	788	c.536G>A	c.(535-537)CGG>CAG	p.R179Q	AGXT2L2_uc003miy.2_5'UTR|AGXT2L2_uc003mjc.2_Missense_Mutation_p.R138Q|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_Intron|AGXT2L2_uc003mjd.1_Missense_Mutation_p.R37Q	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	alanine-glyoxylate aminotransferase 2-like 2	179						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)	GTGGTCCTCCCGGTAGGGGCC	0.627												
LYRM4	57128	broad.mit.edu	37	6	5216852	5216852	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:5216852T>G	uc003mwp.2	-	2	408	c.206A>C	c.(205-207)CAG>CCG	p.Q69P	LYRM4_uc010jnu.2_Missense_Mutation_p.Q69P|LYRM4_uc003mwq.2_Intron|uc003mwn.1_Intron	NM_020408	NP_065141	Q9HD34	LYRM4_HUMAN	LYR motif containing 4 isoform 1	69						mitochondrion|nucleus					0	Ovarian(93;0.11)	all_hematologic(90;0.0901)				CCATCTTACCTGTCGACGAAT	0.373												
BMP6	654	broad.mit.edu	37	6	7727352	7727352	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:7727352A>C	uc003mxu.3	+	1	342	c.164A>C	c.(163-165)CAG>CCG	p.Q55P		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	55					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					CGCACGGAGCAGCCGCCGCCG	0.547												
NEDD9	4739	broad.mit.edu	37	6	11193914	11193914	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:11193914G>A	uc003mzv.2	-	3	638	c.471C>T	c.(469-471)CCC>CCT	p.P157P	NEDD9_uc010joz.2_Silent_p.P157P|NEDD9_uc003mzw.3_Silent_p.P11P	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	157	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CTGTCCTCACGGGGGTTATCA	0.507												
MYLIP	29116	broad.mit.edu	37	6	16145267	16145267	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:16145267T>C	uc003nbq.2	+	6	1204	c.967T>C	c.(967-969)TAT>CAT	p.Y323H	MYLIP_uc003nbr.2_Missense_Mutation_p.Y142H	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	323					cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			AAAGGAGGTGTATGACCATGC	0.458												
HFE	3077	broad.mit.edu	37	6	26093138	26093138	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:26093138C>T	uc003nfx.1	+	4	1002	c.842C>T	c.(841-843)ACG>ATG	p.T281M	HFE_uc003nfy.1_Missense_Mutation_p.T258M|HFE_uc010jqe.1_Missense_Mutation_p.T278M|HFE_uc003nfz.1_Missense_Mutation_p.T193M|HFE_uc003ngd.1_Missense_Mutation_p.T179M|HFE_uc003nga.1_Missense_Mutation_p.T267M|HFE_uc003ngb.1_Missense_Mutation_p.T175M|HFE_uc003ngc.1_Missense_Mutation_p.T189M|HFE_uc003nge.1_Missense_Mutation_p.T101M|HFE_uc003ngf.1_Intron	NM_000410	NP_000401	Q30201	HFE_HUMAN	hemochromatosis protein isoform 1 precursor	281	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding				0						CAGAGATATACGTGCCAGGTG	0.552									Hemochromatosis			
HIST1H1E	3008	broad.mit.edu	37	6	26156700	26156700	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:26156700G>T	uc003ngq.2	+	1	142	c.82G>T	c.(82-84)GCA>TCA	p.A28S	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	28					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						CCGCAAGTCTGCAGGTGCGGC	0.657												
HIST1H2BE	8344	broad.mit.edu	37	6	26184252	26184252	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:26184252G>A	uc003ngt.2	+	1	229	c.229G>A	c.(229-231)GAG>AAG	p.E77K		NM_003523	NP_003514	P62807	H2B1C_HUMAN	histone cluster 1, H2be	77					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0						CATCGCCGGCGAGGCTTCCCG	0.612												
HIST1H4E	8367	broad.mit.edu	37	6	26205129	26205129	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:26205129A>G	uc003ngy.2	+	1	257	c.257A>G	c.(256-258)GAT>GGT	p.D86G		NM_003545	NP_003536	P62805	H4_HUMAN	histone cluster 1, H4e	86					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)				ACAGCGATGGATGTGGTCTAC	0.532												
ABT1	29777	broad.mit.edu	37	6	26598802	26598802	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:26598802C>A	uc003nii.2	+	3	779	c.748C>A	c.(748-750)CTG>ATG	p.L250M		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	250					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			ovary(1)	1						CAAAGGGCTCCTGGCCAGGAT	0.652												
HIST1H2BJ	8970	broad.mit.edu	37	6	27100151	27100151	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:27100151A>G	uc003niv.2	-	1	425	c.379T>C	c.(379-381)TAA>CAA	p.*127Q	HIST1H2BJ_uc003niu.1_Intron|HIST1H2AG_uc003niw.2_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	histone cluster 1, H2bj	127					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						CTCACTGTTTACTTAGCGCTG	0.557												
SCAND3	114821	broad.mit.edu	37	6	28541255	28541255	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:28541255C>A	uc003nlo.2	-	4	3029	c.2411G>T	c.(2410-2412)AGC>ATC	p.S804I		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	804					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ctttggttggcttttcaattc	0												
MAS1L	116511	broad.mit.edu	37	6	29454570	29454570	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:29454570C>T	uc011dlq.1	-	1	1110	c.1110G>A	c.(1108-1110)AGG>AGA	p.R370R		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	370	Cytoplasmic (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(7)|lung(2)	9						CCCTGTGCTCCCTGGGAAGAA	0.507												
TRIM10	10107	broad.mit.edu	37	6	30121844	30121844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:30121844G>A	uc003npo.3	-	7	1424	c.1348C>T	c.(1348-1350)CGA>TGA	p.R450*	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	450	B30.2/SPRY.					cytoplasm	zinc ion binding				0						ATGGGCTCTCGGGTGACAGCG	0.602												
PPP1R10	5514	broad.mit.edu	37	6	30575625	30575625	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:30575625T>C	uc003nqn.1	-	6	926	c.374A>G	c.(373-375)GAG>GGG	p.E125G	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	125	Interaction with TOX4 (By similarity).|TFIIS N-terminal.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						ACCTTCATCCTCACTTGACTT	0.438												
LST1	7940	broad.mit.edu	37	6	31556429	31556429	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:31556429C>T	uc003num.2	+	5	491	c.269C>T	c.(268-270)GCA>GTA	p.A90V	LST1_uc003nun.2_Silent_p.C44C|LST1_uc003nuo.2_Missense_Mutation_p.A35V|LST1_uc003nup.2_Silent_p.C32C|LST1_uc010jss.1_RNA|LST1_uc003nuq.2_Missense_Mutation_p.A45V|LST1_uc010jst.1_RNA|LST1_uc010jsu.1_RNA|LST1_uc003nus.2_RNA|LST1_uc010jsx.2_RNA|LST1_uc003nuu.2_RNA|LST1_uc003nut.2_RNA|LST1_uc010jsw.2_Missense_Mutation_p.A81V	NM_007161	NP_009092	O00453	LST1_HUMAN	leukocyte specific transcript 1 isoform 1	Error:Variant_position_missing_in_O00453_after_alignment					cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding				0						ACTATGCCTGCATTGCTGAGA	0.597												
C6orf10	10665	broad.mit.edu	37	6	32261427	32261427	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:32261427A>G	uc011dpy.1	-	12	1196	c.1023T>C	c.(1021-1023)AGT>AGC	p.S341S	C6orf10_uc011dpx.1_Silent_p.S123S	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	341						integral to membrane				skin(1)	1						CACCTGACTCACTCTTCTTTA	0.463												
TAP2	6891	broad.mit.edu	37	6	32798079	32798079	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:32798079T>C	uc003occ.2	-	8	1631	c.1600A>G	c.(1600-1602)ATC>GTC	p.I534V	TAP2_uc011dqf.1_Missense_Mutation_p.I534V|TAP2_uc003ocb.1_Missense_Mutation_p.I534V|TAP2_uc003ocd.2_Missense_Mutation_p.I534V	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	534	ABC transporter.|Cytoplasmic (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						TACTGTGAGATGGGCTTTTCA	0.587												
BAK1	578	broad.mit.edu	37	6	33543097	33543097	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:33543097A>G	uc003oes.2	-	4	628	c.328T>C	c.(328-330)TAC>CAC	p.Y110H	BAK1_uc003oer.2_Missense_Mutation_p.Y40H|BAK1_uc003oet.2_RNA|BAK1_uc010jvb.2_Missense_Mutation_p.Y110H|BAK1_uc003oeu.2_Missense_Mutation_p.Y51H|BAK1_uc011drj.1_Missense_Mutation_p.Y110H	NM_001188	NP_001179	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	110					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			ovary(1)	1						TTGGTGAAGTACTCATAGGCA	0.567												
ITPR3	3710	broad.mit.edu	37	6	33636774	33636774	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:33636774C>G	uc011drk.1	+	18	2249	c.2030C>G	c.(2029-2031)GCC>GGC	p.A677G		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	677	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						AAGGAGATGGCCCAATCCCAC	0.592												
SPDEF	25803	broad.mit.edu	37	6	34512185	34512185	+	Silent	SNP	G	G	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:34512185G>C	uc003ojq.1	-	2	463	c.48C>G	c.(46-48)CTC>CTG	p.L16L	SPDEF_uc011dsq.1_Silent_p.L16L	NM_012391	NP_036523	O95238	SPDEF_HUMAN	SAM pointed domain containing ets transcription	16					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(3)|ovary(1)|central_nervous_system(1)	5						GGGGCAGCAGGAGGTGGCTGG	0.677												
C6orf106	64771	broad.mit.edu	37	6	34574621	34574621	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:34574621A>G	uc003ojr.2	-	4	817	c.572T>C	c.(571-573)CTG>CCG	p.L191P	C6orf106_uc003ojs.2_Missense_Mutation_p.L125P	NM_024294	NP_077270	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106 isoform a	191										skin(2)|ovary(1)	3						AAAAGATGACAGCTGCTGCGT	0.458												
CLPS	1208	broad.mit.edu	37	6	35762936	35762936	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:35762936C>T	uc003ole.1	-	3	363	c.326G>A	c.(325-327)CGC>CAC	p.R109H	CLPS_uc003olf.1_Missense_Mutation_p.R68H	NM_001832	NP_001823	P04118	COL_HUMAN	colipase preproprotein	109					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region					0						CTGCTTGGAGCGTCCAGCGTC	0.607												
CPNE5	57699	broad.mit.edu	37	6	36767803	36767803	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:36767803G>A	uc003omr.1	-	4	295	c.228C>T	c.(226-228)TTC>TTT	p.F76F	CPNE5_uc003oms.1_Silent_p.F38F	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	76	C2 1.									skin(1)	1						ACTTGCGCACGAAGTCAGGAT	0.552												
KCNK5	8645	broad.mit.edu	37	6	39161960	39161960	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:39161960C>T	uc003oon.2	-	4	983	c.619G>A	c.(619-621)GGT>AGT	p.G207S		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	207					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						ACAAAGTCACCGAAGCCGATG	0.552												
PPP2R5D	5528	broad.mit.edu	37	6	42975937	42975937	+	Splice_Site	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:42975937A>G	uc003oth.2	+	8	944	c.858_splice	c.e8-2	p.R286_splice	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Splice_Site_p.R254_splice|PPP2R5D_uc010jyd.2_Splice_Site_p.R180_splice|PPP2R5D_uc011dva.1_Splice_Site_p.R135_splice|PPP2R5D_uc003oti.2_Splice_Site_p.R135_splice|PPP2R5D_uc003otj.2_Splice_Site_p.R135_splice	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein						nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTCTTCCCTCAGGTTCATCTA	0.577												
MRPL2	51069	broad.mit.edu	37	6	43023644	43023644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:43023644G>A	uc003ots.1	-	5	745	c.622C>T	c.(622-624)CGA>TGA	p.R208*	CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.1_3'UTR	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2 precursor	208					translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CCTGCAGCTCGGATATATTGG	0.562												
PTK7	5754	broad.mit.edu	37	6	43098273	43098273	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:43098273T>C	uc003oub.1	+	5	884	c.686T>C	c.(685-687)CTG>CCG	p.L229P	PTK7_uc003ouc.1_Missense_Mutation_p.L229P|PTK7_uc003oud.1_Missense_Mutation_p.L229P|PTK7_uc003oue.1_Missense_Mutation_p.L229P|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.L237P|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.2_Missense_Mutation_p.L229P	NM_002821	NP_002812	Q13308	PTK7_HUMAN	PTK7 protein tyrosine kinase 7 isoform a	229	Ig-like C2-type 3.|Extracellular (Potential).				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|large_intestine(1)	3			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGGGTGGTGCTGGCACCCCAG	0.617												
ZNF318	24149	broad.mit.edu	37	6	43325442	43325442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:43325442G>A	uc003oux.2	-	3	688	c.610C>T	c.(610-612)CGA>TGA	p.R204*	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	204					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GAAATATATCGCTCAAGACCC	0.468												
C6orf154	221424	broad.mit.edu	37	6	43475025	43475025	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:43475025A>G	uc003ovk.1	-	6	1803	c.902T>C	c.(901-903)CTA>CCA	p.L301P	C6orf154_uc003ovj.1_Missense_Mutation_p.L110P	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	hypothetical protein LOC221424	301											0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TGACGTCATTAGCACCATCTG	0.537											OREG0017453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SUPT3H	8464	broad.mit.edu	37	6	44988338	44988338	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:44988338C>T	uc003oxo.2	-	6	569	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	SUPT3H_uc003oxn.1_Missense_Mutation_p.R73Q|SUPT3H_uc011dvv.1_5'UTR|SUPT3H_uc003oxp.2_Missense_Mutation_p.R73Q|SUPT3H_uc011dvw.1_5'UTR	NM_181356	NP_852001	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog isoform 2	155					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			ovary(2)|breast(1)	3						CCTTGCTCCCCGCAGCTGAGA	0.318												
GPR111	222611	broad.mit.edu	37	6	47647856	47647856	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:47647856T>C	uc010jzj.1	+	5	522	c.521T>C	c.(520-522)GTA>GCA	p.V174A	GPR111_uc010jzk.1_Missense_Mutation_p.V106A|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	174	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						AAAATAAGTGTATATACTGGA	0.313												
MUT	4594	broad.mit.edu	37	6	49407996	49407996	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:49407996G>T	uc003ozg.3	-	11	2134	c.1879C>A	c.(1879-1881)CAT>AAT	p.H627N		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	627	B12-binding.	Cobalt (cobalamin axial ligand) (By similarity).	H -> R (in MMAM; mut0).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTCTGTCATGGCCATCTTGT	0.408												
TRAM2	9697	broad.mit.edu	37	6	52370497	52370497	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:52370497T>C	uc003paq.2	-	9	924	c.775A>G	c.(775-777)ATC>GTC	p.I259V	EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_RNA	NM_012288	NP_036420	Q15035	TRAM2_HUMAN	translocation-associated membrane protein 2	259	TLC.|Helical; (Potential).				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding				0	Lung NSC(77;0.109)					AGGGTGAGGATGAAGAGGCGG	0.527												
DST	667	broad.mit.edu	37	6	56394279	56394279	+	Silent	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:56394279A>T	uc003pdf.2	-	60	11233	c.11205T>A	c.(11203-11205)ACT>ACA	p.T3735T	DST_uc003pcz.3_Silent_p.T3557T|DST_uc011dxj.1_Silent_p.T3586T|DST_uc011dxk.1_Silent_p.T3597T|DST_uc003pcy.3_Silent_p.T3231T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5643					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATAGCCCCTCAGTGCTGTAAT	0.353												
KIAA1586	57691	broad.mit.edu	37	6	56918192	56918192	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:56918192A>G	uc003pdj.2	+	4	1065	c.895A>G	c.(895-897)ATG>GTG	p.M299V	KIAA1586_uc011dxm.1_Missense_Mutation_p.M272V	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	299							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGCAAAAGAAATGAAGATGAA	0.323												
LMBRD1	55788	broad.mit.edu	37	6	70428896	70428896	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:70428896A>G	uc003pfa.2	-	8	829	c.714T>C	c.(712-714)ACT>ACC	p.T238T	LMBRD1_uc003pey.2_Silent_p.T34T|LMBRD1_uc003pez.2_Silent_p.T165T|LMBRD1_uc010kal.2_Silent_p.T165T|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	238	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						CAATGTCTTCAGTGTTTTCCA	0.348												
RIMS1	22999	broad.mit.edu	37	6	72892051	72892051	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:72892051G>A	uc003pga.2	+	6	954	c.877G>A	c.(877-879)GTG>ATG	p.V293M	RIMS1_uc011dyb.1_Translation_Start_Site|RIMS1_uc003pgc.2_Translation_Start_Site|RIMS1_uc003pgb.3_Translation_Start_Site	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	293					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCGGAAACGCGTGCCAAAGAC	0.562												
HTR1B	3351	broad.mit.edu	37	6	78172894	78172894	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:78172894C>T	uc003pil.1	-	1	227	c.227G>A	c.(226-228)CGG>CAG	p.R76Q		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	76	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)	TTTCCGGGTCCGGTACACTGT	0.567												
PHIP	55023	broad.mit.edu	37	6	79726328	79726328	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:79726328G>A	uc003pir.2	-	13	1394	c.1168C>T	c.(1168-1170)CGT>TGT	p.R390C	PHIP_uc011dyp.1_Missense_Mutation_p.R390C	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	390	WD 5.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGCCAAATACGTGCTGTCCCA	0.393												
TBX18	9096	broad.mit.edu	37	6	85446984	85446984	+	Missense_Mutation	SNP	C	C	T	rs145891330	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:85446984C>T	uc003pkl.1	-	8	1243	c.1243G>A	c.(1243-1245)GCT>ACT	p.A415T	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	415					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)		GAATAGTCAGCAGGGGCCAGA	0.592												
CGA	1081	broad.mit.edu	37	6	87797872	87797872	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:87797872G>A	uc003plj.1	-	2	148	c.47C>T	c.(46-48)TCG>TTG	p.S16L		NM_000735	NP_000726	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	16					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)	1		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		CAGAAACACCGACAATGTGAC	0.403												
ZNF292	23036	broad.mit.edu	37	6	87967380	87967380	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:87967380A>T	uc003plm.3	+	8	4074	c.4033A>T	c.(4033-4035)AAA>TAA	p.K1345*		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAAAGTTAAAAAAGACCGTGG	0.433												
C6orf165	154313	broad.mit.edu	37	6	88144681	88144681	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:88144681C>A	uc003plv.2	+	11	1496	c.1404C>A	c.(1402-1404)GAC>GAA	p.D468E	SLC35A1_uc003plx.2_5'Flank|C6orf165_uc003plw.2_Missense_Mutation_p.D280E|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.D468E	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	468										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ATTATATTGACATAGTTAGAG	0.289												
SFRS18	25957	broad.mit.edu	37	6	99856034	99856034	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:99856034A>T	uc003ppo.3	-	7	1015	c.787T>A	c.(787-789)TTG>ATG	p.L263M	SFRS18_uc003ppp.3_Missense_Mutation_p.L263M|SFRS18_uc011eag.1_Missense_Mutation_p.L263M|SFRS18_uc003ppr.2_Missense_Mutation_p.L263M	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	263	Potential.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		TTTTTGGACAATTGTGAACGT	0.418												
GRIK2	2898	broad.mit.edu	37	6	102074414	102074414	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:102074414G>A	uc003pqp.3	+	3	692	c.443G>A	c.(442-444)AGT>AAT	p.S148N	GRIK2_uc003pqn.2_Missense_Mutation_p.S148N|GRIK2_uc003pqo.3_Missense_Mutation_p.S148N|GRIK2_uc010kcw.2_Missense_Mutation_p.S148N	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	148	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTCTATGTCAGTCTCTACCCA	0.502												
C6orf203	51250	broad.mit.edu	37	6	107361107	107361107	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:107361107C>T	uc003prq.2	+	2	224	c.143C>T	c.(142-144)ACC>ATC	p.T48I	C6orf203_uc011eaj.1_Missense_Mutation_p.T53I|C6orf203_uc010kde.2_Missense_Mutation_p.T48I	NM_016487	NP_057571	Q9P0P8	CF203_HUMAN	hypothetical protein LOC51250 isoform a	48											0	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		TTTTCTAGTACCAAGTTACGT	0.393												
LACE1	246269	broad.mit.edu	37	6	108616409	108616409	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:108616409G>T	uc003psj.2	+	1	312	c.126G>T	c.(124-126)AAG>AAT	p.K42N		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	lactation elevated 1	42							ATP binding			central_nervous_system(1)	1		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CCCCTGGGAAGCCCTTTTGGA	0.627												
AKD1	221264	broad.mit.edu	37	6	109863251	109863251	+	Missense_Mutation	SNP	G	G	A	rs139150987	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:109863251G>A	uc003ptn.2	-	27	3426	c.3349C>T	c.(3349-3351)CGT>TGT	p.R1117C	AKD1_uc011eat.1_Missense_Mutation_p.R196C	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1117					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TTAAGATACCGTATTGGTTCC	0.289												
SLC22A16	85413	broad.mit.edu	37	6	110746270	110746270	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:110746270C>T	uc003puf.2	-	8	1607	c.1540G>A	c.(1540-1542)GCC>ACC	p.A514T	SLC22A16_uc003pue.2_Missense_Mutation_p.A495T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	514	Helical; (Potential).				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CTCAGGAGGGCCATAGTCCCA	0.423												
REV3L	5980	broad.mit.edu	37	6	111688943	111688943	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:111688943G>A	uc003puy.3	-	14	6371	c.6048C>T	c.(6046-6048)TAC>TAT	p.Y2016Y	REV3L_uc003pux.3_Silent_p.Y1938Y|REV3L_uc003puz.3_Silent_p.Y1938Y|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2016					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGGAACGTTCGTATTCTTCTT	0.423								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
RFX6	222546	broad.mit.edu	37	6	117240336	117240336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:117240336G>A	uc003pxm.2	+	11	1122	c.1059G>A	c.(1057-1059)TGG>TGA	p.W353*		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	353					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						CTAAAAATTGGGAACAGTGGG	0.323												
C6orf170	221322	broad.mit.edu	37	6	121625975	121625975	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:121625975C>T	uc003pyo.1	-	6	763	c.695G>A	c.(694-696)CGG>CAG	p.R232Q	C6orf170_uc003pyq.1_RNA	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	232					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		TTTTAAAATCCGGTCCTACGG	0.299												
BCLAF1	9774	broad.mit.edu	37	6	136599301	136599301	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:136599301A>G	uc003qgx.1	-	4	971	c.718T>C	c.(718-720)TCA>CCA	p.S240P	BCLAF1_uc003qgw.1_Missense_Mutation_p.S240P|BCLAF1_uc003qgy.1_Missense_Mutation_p.S238P|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S238P	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	240					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAGCAAGATGAACTCTGACTA	0.458												
KIAA1244	57221	broad.mit.edu	37	6	138640990	138640990	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:138640990A>C	uc003qhu.2	+	28	4625	c.4625A>C	c.(4624-4626)GAG>GCG	p.E1542A		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1542					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGGTGGTGGAGCACATTCAA	0.493												
GRM1	2911	broad.mit.edu	37	6	146350787	146350787	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:146350787T>C	uc010khw.1	+	2	604	c.134T>C	c.(133-135)GTC>GCC	p.V45A	GRM1_uc010khu.1_Missense_Mutation_p.V45A|GRM1_uc010khv.1_Missense_Mutation_p.V45A|GRM1_uc003qll.2_Missense_Mutation_p.V45A|GRM1_uc011edz.1_Missense_Mutation_p.V45A|GRM1_uc011eea.1_Missense_Mutation_p.V45A	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	45	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GACGGAGATGTCATCATTGGA	0.592												
GRM1	2911	broad.mit.edu	37	6	146625839	146625839	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:146625839G>T	uc010khw.1	+	4	1513	c.1043G>T	c.(1042-1044)AGG>ATG	p.R348M	GRM1_uc010khv.1_Missense_Mutation_p.R348M|GRM1_uc003qll.2_Missense_Mutation_p.R348M|GRM1_uc011edz.1_Missense_Mutation_p.R348M|GRM1_uc011eea.1_Missense_Mutation_p.R348M	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	348	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCAGAGGTCAGGTCATTTGAT	0.488												
GRM1	2911	broad.mit.edu	37	6	146755301	146755301	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:146755301C>T	uc010khw.1	+	9	3424	c.2954C>T	c.(2953-2955)GCG>GTG	p.A985V	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	985	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)	GTGCCAAGCGCGGCGACCACT	0.662												
GRM1	2911	broad.mit.edu	37	6	146755495	146755495	+	Missense_Mutation	SNP	G	G	A	rs140795616		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:146755495G>A	uc010khw.1	+	9	3618	c.3148G>A	c.(3148-3150)GCG>ACG	p.A1050T	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	1050	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)	GGATTTTCACGCGGTGCTGGC	0.667												
SASH1	23328	broad.mit.edu	37	6	148848672	148848672	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:148848672A>G	uc003qme.1	+	12	1843	c.1368A>G	c.(1366-1368)TCA>TCG	p.S456S	SASH1_uc011eeb.1_Silent_p.S217S|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	456							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGGTGAAATCAGTGAAAGAGA	0.413												
NUP43	348995	broad.mit.edu	37	6	150048223	150048223	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:150048223A>G	uc003qmz.2	-	8	1082	c.1025T>C	c.(1024-1026)ATC>ACC	p.I342T	NUP43_uc003qmx.3_RNA|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Missense_Mutation_p.I246T	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	342					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			upper_aerodigestive_tract(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		TAAGCTTGTGATTTCAATTCG	0.413												
T	6862	broad.mit.edu	37	6	166572000	166572000	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:166572000G>T	uc003quu.1	-	9	1604	c.1111C>A	c.(1111-1113)CTG>ATG	p.L371M	T_uc003qut.1_Missense_Mutation_p.L372M|T_uc003quv.1_Missense_Mutation_p.L313M	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	371					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGGGCCCCCAGCCCGTTGGAC	0.677									Chordoma_Familial_Clustering_of			
RPS6KA2	6196	broad.mit.edu	37	6	166831826	166831826	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:166831826T>C	uc003qvb.1	-	19	2044	c.1825A>G	c.(1825-1827)ACC>GCC	p.T609A	RPS6KA2_uc011ego.1_Missense_Mutation_p.T520A|RPS6KA2_uc010kkl.1_Missense_Mutation_p.T520A|RPS6KA2_uc003qvc.1_Missense_Mutation_p.T617A|RPS6KA2_uc003qvd.1_Missense_Mutation_p.T634A|RPS6KA2_uc010kkk.1_Missense_Mutation_p.T41A	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	609	Protein kinase 2.				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|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCAAAAGGGGTAAATCTGTAT	0.438												
SUN1	23353	broad.mit.edu	37	7	905639	905639	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:905639G>A	uc011jvp.1	+	17	1994	c.1915G>A	c.(1915-1917)GCG>ACG	p.A639T	GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.A556T|SUN1_uc011jvq.1_Missense_Mutation_p.A536T|SUN1_uc003sjg.2_Missense_Mutation_p.A544T|SUN1_uc011jvr.1_Missense_Mutation_p.A437T|SUN1_uc003sji.2_Missense_Mutation_p.A477T|SUN1_uc003sjk.2_Missense_Mutation_p.A278T	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	666	Perinuclear space.|SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						AACCAAAACGGCGCTGATGAG	0.552												
GET4	51608	broad.mit.edu	37	7	933435	933435	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:933435G>T	uc003sjl.1	+	7	897	c.805G>T	c.(805-807)GAC>TAC	p.D269Y	GET4_uc003sjj.1_RNA	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	hypothetical protein LOC51608	269					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding				0						CCTCCGGCGGGACCCCATGTA	0.642												
FTSJ2	29960	broad.mit.edu	37	7	2274830	2274830	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:2274830C>T	uc003slm.2	-	3	697	c.668G>A	c.(667-669)AGC>AAC	p.S223N	MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.2_5'Flank|FTSJ2_uc003slk.2_Missense_Mutation_p.S69N|FTSJ2_uc003sll.2_Missense_Mutation_p.S69N|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_Missense_Mutation_p.S69N	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	FtsJ homolog 2	223					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CTCTTTCCTGCTGGCTTCAGG	0.468												
SDK1	221935	broad.mit.edu	37	7	3678636	3678637	+	Missense_Mutation	DNP	GT	GT	AC			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:3678636_3678637GT>AC	uc003smx.2	+	3	598_599	c.459_460GT>AC	c.(457-462)AAGTAC>AAACAC	p.Y154H		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	154	Ig-like C2-type 1.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TATTCAACAGGTACATTATTCC	0.401												
SDK1	221935	broad.mit.edu	37	7	4056808	4056808	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:4056808G>A	uc003smx.2	+	17	2565	c.2426G>A	c.(2425-2427)CGC>CAC	p.R809H	SDK1_uc010kso.2_Missense_Mutation_p.R85H	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	809	Fibronectin type-III 2.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGCAGGTACCGCCTGGCTGGC	0.567												
SDK1	221935	broad.mit.edu	37	7	4249683	4249683	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:4249683T>G	uc003smx.2	+	38	5567	c.5428T>G	c.(5428-5430)TTC>GTC	p.F1810V	SDK1_uc010kso.2_Missense_Mutation_p.F1066V|SDK1_uc003smy.2_Missense_Mutation_p.F297V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1810	Fibronectin type-III 12.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTTCTGGCGTTCTCAGAAAT	0.577												
PMS2	5395	broad.mit.edu	37	7	6029582	6029582	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:6029582G>A	uc003spl.2	-	10	1080	c.993C>T	c.(991-993)TGC>TGT	p.C331C	PMS2_uc003spj.2_Silent_p.C225C|PMS2_uc003spk.2_Silent_p.C196C|PMS2_uc011jwl.1_Silent_p.C196C|PMS2_uc010ktg.2_Silent_p.C20C|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Silent_p.C331C	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	331					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGATATCAACGCATTCTAAGG	0.219			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
THSD7A	221981	broad.mit.edu	37	7	11501698	11501698	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:11501698C>T	uc003ssf.3	-	10	2693	c.2441G>A	c.(2440-2442)TGC>TAC	p.C814Y		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	814	TSP type-1 8.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGGATCTGTGCAGTCTCGGCC	0.537										HNSCC(18;0.044)		
CDCA7L	55536	broad.mit.edu	37	7	21946038	21946038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:21946038G>A	uc010kuk.2	-	6	910	c.790C>T	c.(790-792)CAG>TAG	p.Q264*	CDCA7L_uc003sve.3_Nonsense_Mutation_p.Q230*|CDCA7L_uc010kul.2_Nonsense_Mutation_p.Q218*|CDCA7L_uc003svf.3_Nonsense_Mutation_p.Q263*	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	264					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						CGCGTGATCTGTCCCTCCGAG	0.542												
IGF2BP3	10643	broad.mit.edu	37	7	23509592	23509592	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:23509592G>A	uc003swg.2	-	1	404	c.138C>T	c.(136-138)GAC>GAT	p.D46D	IGF2BP3_uc003swh.1_RNA	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	46	RRM 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2						CCCAGCTCTCGTCCGGGCAGT	0.697												
HOXA2	3199	broad.mit.edu	37	7	27140534	27140534	+	Silent	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:27140534A>C	uc003syh.2	-	2	1217	c.942T>G	c.(940-942)CCT>CCG	p.P314P		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	314						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CAAGGGCCTCAGGACTGTCAT	0.502												
HOXA7	3204	broad.mit.edu	37	7	27195865	27195865	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:27195865G>T	uc003sys.2	-	1	432	c.300C>A	c.(298-300)GCC>GCA	p.A100A		NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	100					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding				0						TCTTGTCGCAGGCGCCTTTGG	0.682												
AQP1	358	broad.mit.edu	37	7	30963164	30963164	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:30963164G>A	uc003tbv.1	+	4	787	c.730G>A	c.(730-732)GTG>ATG	p.V244M	AQP1_uc011kac.1_Missense_Mutation_p.V304M|AQP1_uc010kwf.1_Missense_Mutation_p.V161M|AQP1_uc010kwg.1_Missense_Mutation_p.V125M|AQP1_uc010kwh.1_Missense_Mutation_p.V193M	NM_198098	NP_932766	P29972	AQP1_HUMAN	aquaporin 1	244	Cytoplasmic.				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity				0		Melanoma(862;0.16)			Acetazolamide(DB00819)	CCGCGTGAAGGTGTGGACCAG	0.602												
EPDR1	54749	broad.mit.edu	37	7	37960770	37960770	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:37960770C>T	uc003tfp.2	+	1	608	c.589C>T	c.(589-591)CGG>TGG	p.R197W	EPDR1_uc003tfq.2_Missense_Mutation_p.R197W|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	77					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						CCAGCGCGTGCGGGTGCTGGA	0.706												
VPS41	27072	broad.mit.edu	37	7	38794339	38794339	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:38794339A>C	uc003tgy.2	-	21	1777	c.1751T>G	c.(1750-1752)GTG>GGG	p.V584G	VPS41_uc003tgz.2_Missense_Mutation_p.V559G|VPS41_uc010kxn.2_Missense_Mutation_p.V495G	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	584	Clathrin.				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						CAATTCTTCCACTACCTTTTT	0.413												
ZMIZ2	83637	broad.mit.edu	37	7	44805082	44805082	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:44805082G>A	uc003tlr.2	+	16	2269	c.2146G>A	c.(2146-2148)GTG>ATG	p.V716M	ZMIZ2_uc003tlq.2_Missense_Mutation_p.V658M|ZMIZ2_uc003tls.2_Missense_Mutation_p.V690M|ZMIZ2_uc003tlt.2_Missense_Mutation_p.V339M|ZMIZ2_uc010kyj.2_Missense_Mutation_p.V238M|ZMIZ2_uc003tlu.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	716					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CATGCCCAGCGTGATGGAGAT	0.697												
POM121L12	285877	broad.mit.edu	37	7	53103659	53103659	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:53103659C>T	uc003tpz.2	+	1	311	c.295C>T	c.(295-297)CGC>TGC	p.R99C		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	99											0						GGGCTGGAGGCGCCCTGCCCT	0.721												
ZNF92	168374	broad.mit.edu	37	7	64864403	64864403	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:64864403G>A	uc003ttz.2	+	4	1519	c.1376G>A	c.(1375-1377)GGC>GAC	p.G459D	ZNF92_uc003tua.2_Missense_Mutation_p.G390D|ZNF92_uc010kzu.2_Missense_Mutation_p.G427D|ZNF92_uc003tub.2_Missense_Mutation_p.G383D	NM_152626	NP_689839	Q03936	ZNF92_HUMAN	zinc finger protein 92 isoform 2	459	C2H2-type 12.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Lung NSC(55;0.159)				GAAGAATGTGGCAAAGCCTTT	0.353												
AUTS2	26053	broad.mit.edu	37	7	69064751	69064751	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:69064751G>A	uc003tvw.3	+	1	855	c.112G>A	c.(112-114)GGC>AGC	p.G38S	AUTS2_uc003tvv.3_Missense_Mutation_p.G38S|AUTS2_uc003tvx.3_Missense_Mutation_p.G38S	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	38										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ggccggcggcggcggggctgg	0.498												
WBSCR17	64409	broad.mit.edu	37	7	70800611	70800611	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:70800611C>T	uc003tvy.2	+	2	314	c.314C>T	c.(313-315)CCG>CTG	p.P105L	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	105	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACTCTTTCCCCGGCTGAAGAA	0.473												
WBSCR22	114049	broad.mit.edu	37	7	73106939	73106939	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:73106939G>A	uc003tyt.2	+	7	531	c.473G>A	c.(472-474)CGA>CAA	p.R158Q	WBSCR22_uc010lbi.1_RNA|WBSCR22_uc003tyu.2_Missense_Mutation_p.R158Q|WBSCR22_uc003tyv.2_Missense_Mutation_p.R120Q|WBSCR22_uc003tyw.1_Missense_Mutation_p.R21Q	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	158						nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				CGGGGATCCCGAGCTGTCCTG	0.522												
EIF4H	7458	broad.mit.edu	37	7	73609551	73609551	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:73609551G>A	uc003uad.1	+	7	668	c.660G>A	c.(658-660)ACG>ACA	p.T220T	RFC2_uc011kfa.1_Intron|EIF4H_uc010lbm.2_Intron|EIF4H_uc003uae.1_Silent_p.T200T|EIF4H_uc003uaf.1_RNA	NM_022170	NP_071496	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	220					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0						CAGTCGCGACGCCCCTCAATC	0.532												
SEMA3D	223117	broad.mit.edu	37	7	84642151	84642151	+	Missense_Mutation	SNP	C	C	T	rs150646719	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:84642151C>T	uc003uic.2	-	15	1755	c.1715G>A	c.(1714-1716)CGC>CAC	p.R572H	SEMA3D_uc010led.2_Missense_Mutation_p.R572H|SEMA3D_uc003uib.2_Missense_Mutation_p.R211H	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	572	PSI.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						TACATCTTGGCGTCTAGCTCT	0.408												
GRM3	2913	broad.mit.edu	37	7	86394652	86394652	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:86394652G>A	uc003uid.2	+	2	1290	c.191G>A	c.(190-192)CGA>CAA	p.R64Q	GRM3_uc010lef.2_Missense_Mutation_p.R62Q|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	64	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AATGAAGACCGAGGGATTCAA	0.418												
GRM3	2913	broad.mit.edu	37	7	86479839	86479839	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:86479839A>G	uc003uid.2	+	5	3644	c.2545A>G	c.(2545-2547)ACT>GCT	p.T849A	GRM3_uc010lef.2_Missense_Mutation_p.N491S|GRM3_uc010leg.2_Missense_Mutation_p.T721A|GRM3_uc010leh.2_Missense_Mutation_p.T441A	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	849	Cytoplasmic (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)	TGTCAGTGGAACTGGGACCAC	0.478												
ABCB1	5243	broad.mit.edu	37	7	87148696	87148696	+	Missense_Mutation	SNP	C	C	T	rs144369247		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:87148696C>T	uc003uiz.1	-	24	3291	c.2873G>A	c.(2872-2874)CGG>CAG	p.R958Q	ABCB1_uc011khc.1_Missense_Mutation_p.R894Q	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	958	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGCTCCAAACCGGAAACATCC	0.323												
ABCB1	5243	broad.mit.edu	37	7	87165820	87165820	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:87165820C>T	uc003uiz.1	-	21	2853	c.2435G>A	c.(2434-2436)GGA>GAA	p.G812E	ABCB1_uc011khc.1_Missense_Mutation_p.G748E	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	812	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGTCAATGCTCCAGTGGTGTT	0.398												
DLX6	1750	broad.mit.edu	37	7	96639203	96639203	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:96639203G>A	uc003uom.2	+	4	642	c.642G>A	c.(640-642)GCG>GCA	p.A214A	DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	distal-less homeobox 6	124					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	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)					AGGGCTCGGCGGCCCTGTCGC	0.577												
NPTX2	4885	broad.mit.edu	37	7	98254285	98254285	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:98254285G>A	uc003upl.2	+	3	872	c.695G>A	c.(694-696)CGC>CAC	p.R232H		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	232	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCCACTCCGCACAAACTAC	0.597												
TRRAP	8295	broad.mit.edu	37	7	98574685	98574685	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:98574685G>A	uc003upp.2	+	55	8559	c.8350G>A	c.(8350-8352)GGG>AGG	p.G2784R	TRRAP_uc011kis.1_Missense_Mutation_p.G2766R|TRRAP_uc003upr.2_Missense_Mutation_p.G2483R	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2784	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGAGCAGCACGGGTTCTTTGA	0.488												
ZNF789	285989	broad.mit.edu	37	7	99084582	99084582	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:99084582G>A	uc003uqq.1	+	5	968	c.749G>A	c.(748-750)TGT>TAT	p.C250Y	ZNF789_uc010lfw.1_Missense_Mutation_p.C155Y|ZNF789_uc003uqr.1_Missense_Mutation_p.C192Y	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN	zinc finger protein 789 isoform 1	250	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	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)					CATAAACAGTGTCACCTGCAA	0.428												
ZNF394	84124	broad.mit.edu	37	7	99092122	99092122	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:99092122T>C	uc003uqs.2	-	3	877	c.716A>G	c.(715-717)CAT>CGT	p.H239R	ZNF394_uc003uqt.2_Missense_Mutation_p.H32R	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	239					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	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)					CCTGTCCTCATGGGTACTGCC	0.498												
GAL3ST4	79690	broad.mit.edu	37	7	99764249	99764249	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:99764249C>T	uc003utt.2	-	2	1322	c.305G>A	c.(304-306)CGC>CAC	p.R102H	GAL3ST4_uc003utu.2_Missense_Mutation_p.R102H|GAL3ST4_uc010lgq.2_Intron	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	102	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAACTGGTAGCGGGCAGGGAG	0.612												
PLOD3	8985	broad.mit.edu	37	7	100849593	100849593	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:100849593C>T	uc003uyd.2	-	19	2642	c.2186G>A	c.(2185-2187)CGC>CAC	p.R729H	PLOD3_uc010lhs.2_Missense_Mutation_p.R294H	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	729	Fe2OG dioxygenase.	Potential.			protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CATGATGTAGCGTGTGCCCCA	0.637												
CUX1	1523	broad.mit.edu	37	7	101837135	101837135	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:101837135A>G	uc003uyx.3	+	13	1128	c.1090A>G	c.(1090-1092)ATG>GTG	p.M364V	CUX1_uc003uys.3_Missense_Mutation_p.M375V|CUX1_uc003uyt.2_Missense_Mutation_p.M375V|CUX1_uc011kkn.1_Missense_Mutation_p.M336V|CUX1_uc003uyw.2_Missense_Mutation_p.M329V|CUX1_uc003uyv.2_Missense_Mutation_p.M359V|CUX1_uc003uyu.2_Missense_Mutation_p.M373V	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	364					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						TCTGAAGTCCATGGAGTTTGC	0.398												
MLL5	55904	broad.mit.edu	37	7	104753084	104753084	+	Silent	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:104753084C>A	uc003vcm.2	+	27	5415	c.4881C>A	c.(4879-4881)CCC>CCA	p.P1627P	MLL5_uc010ljc.2_Silent_p.P1627P|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Silent_p.P361P	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	1627	Pro-rich.				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						CCGTAGTCCCCCCTCCTCCTC	0.552												
NRCAM	4897	broad.mit.edu	37	7	107807391	107807391	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:107807391T>C	uc003vfb.2	-	30	3912	c.3441A>G	c.(3439-3441)TCA>TCG	p.S1147S	NRCAM_uc003vfc.2_Intron|NRCAM_uc011kmk.1_Intron|NRCAM_uc003vfd.2_Intron|NRCAM_uc003vfe.2_Intron|NRCAM_uc011kmj.1_Intron	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	1147	Fibronectin type-III 5.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						ACACATCCTCTGAACTCACAA	0.552												
LRRN3	54674	broad.mit.edu	37	7	110763371	110763371	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:110763371T>C	uc003vft.3	+	4	1589	c.543T>C	c.(541-543)AGT>AGC	p.S181S	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.S181S|LRRN3_uc003vfs.3_Silent_p.S181S	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	181	Extracellular (Potential).|LRR 5.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TGATCAACAGTAAGTGGTTTG	0.358												
MET	4233	broad.mit.edu	37	7	116381068	116381068	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:116381068G>A	uc003vij.2	+	5	1877	c.1690G>A	c.(1690-1692)GCA>ACA	p.A564T	MET_uc010lkh.2_Missense_Mutation_p.A564T|MET_uc011knc.1_Missense_Mutation_p.A564T|MET_uc011knd.1_Missense_Mutation_p.A564T|MET_uc011kne.1_Missense_Mutation_p.A536T|MET_uc011knf.1_Missense_Mutation_p.A564T|MET_uc011kng.1_Missense_Mutation_p.A564T|MET_uc011knh.1_Missense_Mutation_p.A564T|MET_uc011kni.1_Missense_Mutation_p.A564T|MET_uc011knj.1_Missense_Mutation_p.A134T|MET_uc011knb.1_Missense_Mutation_p.A564T	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	564	Extracellular (Potential).|IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTGTCTGCCTGCAATCTACAA	0.373			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)			
GPR37	2861	broad.mit.edu	37	7	124404154	124404154	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:124404154G>A	uc003vli.2	-	1	1528	c.877C>T	c.(877-879)CGG>TGG	p.R293W		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	293	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						GAGATGCTCCGCATGTAGTAG	0.557												
LRRC4	64101	broad.mit.edu	37	7	127669309	127669309	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:127669309G>A	uc003vmk.2	-	2	1522	c.1385C>T	c.(1384-1386)ACG>ATG	p.T462M	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	462	Thr-rich.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		CGAGATCTCCGTGGTCTCCAC	0.547												
LRRC4	64101	broad.mit.edu	37	7	127669674	127669674	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:127669674G>A	uc003vmk.2	-	2	1157	c.1020C>T	c.(1018-1020)CTC>CTT	p.L340L	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	340	Extracellular (Potential).|LRRCT.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		CCACCTCCACGAGGTAGCGGC	0.572												
ATP6V1F	9296	broad.mit.edu	37	7	128505608	128505608	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:128505608G>A	uc003voc.1	+	2	397	c.336G>A	c.(334-336)ATG>ATA	p.M112I	KCP_uc003vob.1_Intron	NM_004231	NP_004222	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kD, V1	112					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						CCAGGGGCATGTTCACTGCCG	0.622												
NUP205	23165	broad.mit.edu	37	7	135269586	135269586	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:135269586C>A	uc003vsw.2	+	8	1080	c.1049C>A	c.(1048-1050)GCA>GAA	p.A350E	NUP205_uc011kqa.1_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	350					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						CTAGCTCTGGCAGAATTCACA	0.383												
HIPK2	28996	broad.mit.edu	37	7	139285327	139285327	+	Silent	SNP	G	G	A	rs144631225	by1000genomes	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:139285327G>A	uc003vvf.3	-	11	2445	c.2271C>T	c.(2269-2271)CAC>CAT	p.H757H	HIPK2_uc003vvd.3_Silent_p.H730H	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	757	Interaction with SKI and SMAD1.|Interaction with POU4F1 (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					AATGGCTTCCGTGAGCATGCG	0.498												
AGK	55750	broad.mit.edu	37	7	141352635	141352635	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:141352635C>T	uc003vwi.2	+	16	1351	c.1180C>T	c.(1180-1182)CCT>TCT	p.P394S		NM_018238	NP_060708	Q53H12	AGK_HUMAN	acylglycerol kinase precursor	394					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			ovary(1)|breast(1)	2	Melanoma(164;0.0171)					TGAAGCGATGCCTGTGGAGGT	0.522												
ZYX	7791	broad.mit.edu	37	7	143085726	143085726	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:143085726C>A	uc003wcw.2	+	7	1444	c.1289C>A	c.(1288-1290)GCG>GAG	p.A430E	ZYX_uc011ktd.1_Missense_Mutation_p.A273E|ZYX_uc003wcx.2_Missense_Mutation_p.A430E|ZYX_uc011kte.1_Missense_Mutation_p.A399E|ZYX_uc011ktf.1_Missense_Mutation_p.A273E	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	430	LIM zinc-binding 1.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					CTGGAGGGGGCGCCGTACTGC	0.547												
EPHA1	2041	broad.mit.edu	37	7	143096798	143096798	+	Missense_Mutation	SNP	G	G	A	rs140233341	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:143096798G>A	uc003wcz.2	-	4	868	c.781C>T	c.(781-783)CGG>TGG	p.R261W		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	261	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAGTGGCACCGTCCTACAGGC	0.657												
LRRC61	65999	broad.mit.edu	37	7	150034380	150034380	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:150034380C>A	uc003wgv.2	+	3	1104	c.430C>A	c.(430-432)CCC>ACC	p.P144T	LRRC61_uc003wgx.2_Missense_Mutation_p.P144T|LRRC61_uc003wgw.2_Missense_Mutation_p.P144T|LRRC61_uc003wgz.3_Missense_Mutation_p.P144T	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	144	LRRCT.										0			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CTGTGCCAACCCCTCCTACTG	0.657												
DPP6	1804	broad.mit.edu	37	7	154672632	154672632	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:154672632C>T	uc003wlk.2	+	21	2242	c.2113C>T	c.(2113-2115)CGC>TGC	p.R705C	DPP6_uc003wli.2_Missense_Mutation_p.R641C|DPP6_uc003wlm.2_Missense_Mutation_p.R643C|DPP6_uc011kvq.1_Missense_Mutation_p.R598C	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	705	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGACAGGACGCGCGTGGCCGT	0.557												
RBM33	155435	broad.mit.edu	37	7	155538000	155538000	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:155538000C>T	uc010lqk.1	+	14	3051	c.2683C>T	c.(2683-2685)CCA>TCA	p.P895S	RBM33_uc011kvv.1_Missense_Mutation_p.P704S|RBM33_uc003wmg.2_5'Flank	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	895							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CAATTTTGTACCATCCAGTGC	0.433												
ERICH1	157697	broad.mit.edu	37	8	623502	623502	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:623502G>A	uc003wph.2	-	4	915	c.850C>T	c.(850-852)CGG>TGG	p.R284W	ERICH1_uc011kwh.1_Missense_Mutation_p.R284W|ERICH1_uc003wpe.1_Missense_Mutation_p.R190W|ERICH1_uc003wpi.2_Missense_Mutation_p.R96W	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	284	Glu-rich.									large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCCCCGGCCCGTGTCAGGTCT	0.642												
ERICH1	157697	broad.mit.edu	37	8	642608	642608	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:642608A>G	uc003wph.2	-	3	239	c.174T>C	c.(172-174)ACT>ACC	p.T58T	ERICH1_uc011kwh.1_Silent_p.T58T|ERICH1_uc003wpe.1_Intron	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	58										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCTCAGAGCCAGTGTCTGCAA	0.537												
MYOM2	9172	broad.mit.edu	37	8	2005503	2005503	+	Silent	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:2005503C>A	uc003wpx.3	+	4	439	c.301C>A	c.(301-303)CGA>AGA	p.R101R	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	101					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGAGGCCAAGCGACAGCGCTT	0.622												
CSMD1	64478	broad.mit.edu	37	8	2944619	2944619	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:2944619C>A	uc011kwk.1	-	49	7867	c.7477G>T	c.(7477-7479)GCT>TCT	p.A2493S	CSMD1_uc011kwj.1_Missense_Mutation_p.A1822S|CSMD1_uc010lrg.2_Missense_Mutation_p.A561S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2493	Sushi 14.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATTTCTTACCCTGGCAGAGT	0.463												
CSMD1	64478	broad.mit.edu	37	8	3263588	3263588	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:3263588C>T	uc011kwk.1	-	15	2620	c.2230G>A	c.(2230-2232)GGG>AGG	p.G744R	CSMD1_uc011kwj.1_Missense_Mutation_p.G136R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	744	Sushi 4.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCACGTTCCCGTCTTGCAGT	0.552												
SGK223	157285	broad.mit.edu	37	8	8234511	8234511	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:8234511C>T	uc003wsh.3	-	2	1408	c.1408G>A	c.(1408-1410)GCC>ACC	p.A470T		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	470							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GTGATGGTGGCTGACACCTGG	0.657												
MFHAS1	9258	broad.mit.edu	37	8	8748510	8748510	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:8748510C>T	uc003wsj.1	-	1	2622	c.2059G>A	c.(2059-2061)GCG>ACG	p.A687T		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	687											0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCCAAGCGCGCCGAGTCCCAC	0.612												
FGF20	26281	broad.mit.edu	37	8	16850775	16850775	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:16850775A>G	uc003wxc.1	-	3	575	c.442T>C	c.(442-444)TAT>CAT	p.Y148H	FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_3'UTR	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	148					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			lung(1)	1				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TAGGTGTTATACCAGTTCTCT	0.383												
MTUS1	57509	broad.mit.edu	37	8	17542011	17542011	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:17542011G>A	uc003wxv.2	-	7	3138	c.2664C>T	c.(2662-2664)ATC>ATT	p.I888I	MTUS1_uc003wxt.2_Silent_p.I135I|MTUS1_uc011kyg.1_Silent_p.I33I|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.I834I|MTUS1_uc003wxs.2_Silent_p.I54I|hsa-mir-548v|MI0014174_5'Flank	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	888						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		TCTGTGGCTGGATACATAAGC	0.408												
MTUS1	57509	broad.mit.edu	37	8	17611350	17611350	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:17611350A>G	uc003wxv.2	-	2	2441	c.1967T>C	c.(1966-1968)GTT>GCT	p.V656A	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.V656A|MTUS1_uc010lsz.2_Missense_Mutation_p.V656A	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	656						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		AATGTTGGGAACATAGGTCAT	0.408												
CSGALNACT1	55790	broad.mit.edu	37	8	19363078	19363078	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:19363078T>C	uc011kyn.1	-	4	1332	c.268A>G	c.(268-270)AGT>GGT	p.S90G	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.S90G|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.S89G|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	90	Lumenal (Potential).|Potential.				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		AGCTGCTCACTCCTCTCCTGC	0.632												
XPO7	23039	broad.mit.edu	37	8	21859729	21859729	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:21859729G>T	uc003xaa.3	+	25	2991	c.2889G>T	c.(2887-2889)CAG>CAT	p.Q963H	XPO7_uc010lti.2_Missense_Mutation_p.Q972H|XPO7_uc010ltk.2_Missense_Mutation_p.Q964H	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	963					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCCTGAACCAGGAGAGCGACC	0.552												
PHYHIP	9796	broad.mit.edu	37	8	22085854	22085854	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:22085854G>A	uc003xbk.3	-	3	711	c.17C>T	c.(16-18)ACG>ATG	p.T6M	PHYHIP_uc003xbj.3_Missense_Mutation_p.T6M	NM_001099335	NP_001092805	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	6	Fibronectin type-III.										0				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GCTGTGGGGCGTGGACAGCAG	0.577												
PPP3CC	5533	broad.mit.edu	37	8	22332491	22332491	+	Missense_Mutation	SNP	G	G	A	rs138834215		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:22332491G>A	uc003xbs.2	+	2	401	c.74G>A	c.(73-75)CGG>CAG	p.R25Q	PPP3CC_uc003xbr.1_Missense_Mutation_p.R25Q|PPP3CC_uc011kzi.1_Missense_Mutation_p.R25Q|PPP3CC_uc003xbt.2_Missense_Mutation_p.R25Q	NM_005605	NP_005596	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma	25					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		CCAACCCAACGGCTTACTTTC	0.323												
KIAA1967	57805	broad.mit.edu	37	8	22476529	22476529	+	Splice_Site	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:22476529G>A	uc003xch.2	+	19	2658	c.2521_splice	c.e19+1	p.E841_splice	KIAA1967_uc003xci.2_Splice_Site_p.E841_splice|KIAA1967_uc003xcj.1_Splice_Site_p.E510_splice	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein						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)		CTGAAGCTGGGTGAGGGCCTG	0.632												
EGR3	1960	broad.mit.edu	37	8	22550321	22550321	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:22550321T>C	uc003xcm.1	-	1	495	c.137A>G	c.(136-138)TAC>TGC	p.Y46C	EGR3_uc011kzn.1_5'Flank|EGR3_uc011kzo.1_5'Flank	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	46					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CATCTGATTGTAATGGACTAC	0.358												
ADAM7	8756	broad.mit.edu	37	8	24333965	24333965	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:24333965C>A	uc003xeb.2	+	8	766	c.653C>A	c.(652-654)CCT>CAT	p.P218H	ADAM7_uc003xec.2_5'UTR	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	218	Peptidase M12B.|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)		AATGGTCATCCTCACAATAAA	0.299												
DOCK5	80005	broad.mit.edu	37	8	25158099	25158099	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:25158099T>C	uc003xeg.2	+	9	909	c.772T>C	c.(772-774)TAT>CAT	p.Y258H	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Intron|DOCK5_uc003xef.2_Missense_Mutation_p.Y258H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	258						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGTGAGAACTATCTAATTCG	0.433												
EXTL3	2137	broad.mit.edu	37	8	28575186	28575186	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:28575186G>A	uc003xgz.1	+	3	2203	c.1610G>A	c.(1609-1611)CGC>CAC	p.R537H		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	537	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ATTAGGACTCGCATCCAGATC	0.577												
RBPMS	11030	broad.mit.edu	37	8	30402081	30402081	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:30402081G>A	uc003xic.1	+	6	1133	c.468G>A	c.(466-468)GCG>GCA	p.A156A	RBPMS_uc003xid.1_Silent_p.A156A|RBPMS_uc003xie.1_Silent_p.A156A|RBPMS_uc003xif.1_RNA|RBPMS_uc011lba.1_Silent_p.A156A|RBPMS_uc003xib.2_Silent_p.A156A|RBPMS_uc010lvh.1_Silent_p.A52A	NM_006867	NP_006858	Q93062	RBPMS_HUMAN	RNA-binding protein with multiple splicing	156					positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TGTACCCAGCGGAGTTAGCGC	0.547												
NRG1	3084	broad.mit.edu	37	8	32463104	32463104	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:32463104A>G	uc003xiv.2	+	3	820	c.303A>G	c.(301-303)AAA>AAG	p.K101K	NRG1_uc003xip.2_Silent_p.K316K|NRG1_uc003xir.2_Silent_p.K101K|NRG1_uc010lvl.2_Silent_p.K101K|NRG1_uc010lvm.2_Silent_p.K101K|NRG1_uc010lvn.2_Silent_p.K101K|NRG1_uc003xis.2_Silent_p.K101K|NRG1_uc011lbf.1_Silent_p.K101K|NRG1_uc010lvo.2_Silent_p.K101K|NRG1_uc003xiu.2_Silent_p.K101K|NRG1_uc003xiw.2_Silent_p.K101K|NRG1_uc003xit.2_Silent_p.K101K|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Silent_p.K67K|NRG1_uc010lvq.2_Silent_p.K67K|NRG1_uc003xix.2_5'UTR	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	101	Extracellular (Potential).|Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCATTAACAAAGCATCACTGG	0.383												
NRG1	3084	broad.mit.edu	37	8	32613931	32613931	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:32613931A>G	uc003xiv.2	+	9	1331	c.814A>G	c.(814-816)AAA>GAA	p.K272E	NRG1_uc011lbf.1_Missense_Mutation_p.K269E|NRG1_uc010lvo.2_Missense_Mutation_p.K269E|NRG1_uc003xiu.2_Missense_Mutation_p.K277E|NRG1_uc003xiw.2_Missense_Mutation_p.K269E|NRG1_uc003xit.2_Missense_Mutation_p.K272E|NRG1_uc010lvr.2_Missense_Mutation_p.K14E|NRG1_uc010lvs.2_Missense_Mutation_p.K14E|NRG1_uc010lvp.2_Missense_Mutation_p.K226E|NRG1_uc010lvq.2_Missense_Mutation_p.K209E|NRG1_uc011lbg.1_Missense_Mutation_p.K118E|NRG1_uc011lbh.1_Missense_Mutation_p.K115E|NRG1_uc003xja.2_Missense_Mutation_p.K83E	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	272	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAAACAGCGGAAAAAGCTGCA	0.428												
KCNU1	157855	broad.mit.edu	37	8	36694371	36694371	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:36694371G>C	uc010lvw.2	+	14	1513	c.1426G>C	c.(1426-1428)GCT>CCT	p.A476P	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	476	RCK N-terminal.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CATCTGCTTTGCTGAATTAAA	0.428												
ERLIN2	11160	broad.mit.edu	37	8	37609162	37609162	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:37609162A>G	uc003xke.3	+	10	783	c.668A>G	c.(667-669)CAG>CGG	p.Q223R		NM_007175	NP_009106	O94905	ERLN2_HUMAN	ER lipid raft associated 2 isoform 1	223	Interaction with ERLIN1.|Lumenal (Potential).				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding				0		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AAAGTGGCCCAGGTGGCTGAG	0.468												
GPR124	25960	broad.mit.edu	37	8	37672412	37672412	+	Splice_Site	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:37672412A>G	uc003xkj.2	+	2	630	c.267_splice	c.e2-2	p.L89_splice	GPR124_uc003xki.2_Splice_Site_p.L89_splice|GPR124_uc010lvy.2_Splice_Site_p.L89_splice	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor						central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTGTCTCTTCAGGCTCTTGAG	0.562												
RAB11FIP1	80223	broad.mit.edu	37	8	37730469	37730469	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:37730469G>A	uc003xkm.1	-	4	1895	c.1851C>T	c.(1849-1851)CTC>CTT	p.L617L	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	617					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCCTGTCTACGAGAGGCCAGC	0.517												
ADRB3	155	broad.mit.edu	37	8	37823533	37823533	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:37823533C>T	uc003xkr.1	-	1	652	c.455G>A	c.(454-456)CGC>CAC	p.R152H		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	152	Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			lung(2)	2	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	CCGGGCGCAGCGCTTGGTGAC	0.687												
FGFR1	2260	broad.mit.edu	37	8	38282121	38282121	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:38282121C>T	uc003xlp.2	-	7	1784	c.842G>A	c.(841-843)AGT>AAT	p.S281N	FGFR1_uc011lbo.1_Missense_Mutation_p.S279N|FGFR1_uc011lbp.1_Missense_Mutation_p.S192N|FGFR1_uc011lbq.1_Missense_Mutation_p.S190N|FGFR1_uc010lwk.2_Missense_Mutation_p.S273N|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.S121N|FGFR1_uc011lbt.1_Missense_Mutation_p.S190N|FGFR1_uc011lbu.1_Missense_Mutation_p.S312N|FGFR1_uc011lbv.1_Missense_Mutation_p.S279N|FGFR1_uc011lbw.1_Missense_Mutation_p.S192N|FGFR1_uc011lbx.1_Missense_Mutation_p.S192N|FGFR1_uc003xlv.2_Missense_Mutation_p.S192N|FGFR1_uc003xlu.2_Missense_Mutation_p.S190N	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	281	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CTGCGGGTCACTGTACACCTT	0.562		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome					
TACC1	6867	broad.mit.edu	37	8	38677178	38677178	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:38677178C>A	uc010lwp.2	+	3	795	c.416C>A	c.(415-417)CCT>CAT	p.P139H	TACC1_uc011lby.1_Translation_Start_Site|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_Translation_Start_Site|TACC1_uc003xmc.3_Translation_Start_Site|TACC1_uc011lbz.1_Missense_Mutation_p.P155H|TACC1_uc003xmb.3_Missense_Mutation_p.P94H|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.3_Intron|TACC1_uc011lca.1_Missense_Mutation_p.P139H|TACC1_uc011lcb.1_Translation_Start_Site|TACC1_uc011lcc.1_Translation_Start_Site|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Translation_Start_Site|TACC1_uc010lwq.2_Translation_Start_Site	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	139					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)			AGAGAAGAACCTGAACATGAT	0.408												
ADAM9	8754	broad.mit.edu	37	8	38913110	38913110	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:38913110T>C	uc003xmr.2	+	14	1488	c.1410T>C	c.(1408-1410)GGT>GGC	p.G470G	ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	470	Extracellular (Potential).|Disintegrin.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTCCAGGAGGTACTTTATGCC	0.363												
ST18	9705	broad.mit.edu	37	8	53025828	53025828	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:53025828C>A	uc003xqz.2	-	21	3230	c.3074G>T	c.(3073-3075)CGG>CTG	p.R1025L	ST18_uc011ldq.1_Missense_Mutation_p.R672L|ST18_uc011ldr.1_Missense_Mutation_p.R990L|ST18_uc011lds.1_Missense_Mutation_p.R930L|ST18_uc003xra.2_Missense_Mutation_p.R1025L	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	1025						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGAATAGTCCCGTTCCAGATT	0.443												
TGS1	96764	broad.mit.edu	37	8	56725669	56725669	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:56725669A>G	uc003xsj.3	+	12	2818	c.2431A>G	c.(2431-2433)ATT>GTT	p.I811V	TGS1_uc010lyh.2_Missense_Mutation_p.I637M	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	811	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			AAATGCTGATATTGACCAGGT	0.333												
MOS	4342	broad.mit.edu	37	8	57026167	57026167	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:57026167C>T	uc011leb.1	-	1	375	c.375G>A	c.(373-375)ACG>ACA	p.T125T		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	125	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)			CGGGCGTGCGCGTGCTGGCAG	0.612												
MOS	4342	broad.mit.edu	37	8	57026186	57026186	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:57026186C>T	uc011leb.1	-	1	356	c.356G>A	c.(355-357)CGC>CAC	p.R119H		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	119	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)			AGCCACCACGCGCACGATGTT	0.557												
CYP7A1	1581	broad.mit.edu	37	8	59409279	59409279	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:59409279A>G	uc003xtm.3	-	3	855	c.792T>C	c.(790-792)AAT>AAC	p.N264N		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	264					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ACAAAGTGTCATTGAGAAACA	0.522									Neonatal_Giant_Cell_Hepatitis			
MTFR1	9650	broad.mit.edu	37	8	66621267	66621267	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:66621267A>G	uc003xvm.2	+	8	1202	c.990A>G	c.(988-990)GTA>GTG	p.V330V	MTFR1_uc003xvn.2_Silent_p.V297V|MTFR1_uc003xvo.1_Intron	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	330						mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TTGAAAATGTATCAGACTCCT	0.368												
CA2	760	broad.mit.edu	37	8	86377546	86377546	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:86377546G>A	uc003ydk.2	+	2	260	c.80G>A	c.(79-81)CGC>CAC	p.R27H		NM_000067	NP_000058	P00918	CAH2_HUMAN	carbonic anhydrase II	27					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(1)	1					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	AAGGGAGAGCGCCAGTCCCCT	0.542												
CPNE3	8895	broad.mit.edu	37	8	87543456	87543456	+	Missense_Mutation	SNP	C	C	T	rs76328401	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:87543456C>T	uc003ydv.2	+	5	548	c.386C>T	c.(385-387)ACG>ATG	p.T129M		NM_003909	NP_003900	O75131	CPNE3_HUMAN	copine III	129	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			ovary(1)|skin(1)	2						GGGAGCATTACGGTAAAAATA	0.388												
FAM92A1	137392	broad.mit.edu	37	8	94713595	94713595	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:94713595C>T	uc010maq.2	+	2	273	c.170C>T	c.(169-171)GCG>GTG	p.A57V	FAM92A1_uc003yfu.1_RNA|FAM92A1_uc003yfv.3_RNA	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	hypothetical protein LOC137392	57											0	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GAAATTAACGCGTATGCTGCT	0.478												
RBM12B	389677	broad.mit.edu	37	8	94747361	94747361	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:94747361A>G	uc003yfz.2	-	3	1471	c.1278T>C	c.(1276-1278)GCT>GCC	p.A426A		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	426	RRM 3.						nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGTCATCCTCAGCAAGAAGAA	0.373												
RAD54B	25788	broad.mit.edu	37	8	95411754	95411754	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:95411754A>G	uc003ygk.2	-	8	1364	c.1266T>C	c.(1264-1266)AAT>AAC	p.N422N	RAD54B_uc010may.1_Silent_p.N229N|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)			CAAATTTTATATTCTTAATTT	0.348								Direct_reversal_of_damage|Homologous_recombination				
INTS8	55656	broad.mit.edu	37	8	95877854	95877854	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:95877854C>T	uc003yhb.2	+	17	2323	c.2197C>T	c.(2197-2199)CGA>TGA	p.R733*	INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Nonsense_Mutation_p.R560*	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	733					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					TCAGCACAAACGAGGAAATGA	0.403												
GDF6	392255	broad.mit.edu	37	8	97156989	97156989	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:97156989C>T	uc003yhp.2	-	2	1270	c.1170G>A	c.(1168-1170)CCG>CCA	p.P390P		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	390					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GCGAGCGCAGCGGGAAGTCGC	0.647												
POP1	10940	broad.mit.edu	37	8	99146847	99146847	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:99146847G>A	uc003yij.3	+	7	1071	c.971G>A	c.(970-972)AGC>AAC	p.S324N	POP1_uc011lgv.1_Missense_Mutation_p.S324N|POP1_uc003yik.2_Missense_Mutation_p.S324N	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	324					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CCTTCTGAGAGCAGGCAGCTG	0.473												
POP1	10940	broad.mit.edu	37	8	99158813	99158813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:99158813C>T	uc003yij.3	+	12	1712	c.1612C>T	c.(1612-1614)CAG>TAG	p.Q538*	POP1_uc011lgv.1_Nonsense_Mutation_p.Q538*|POP1_uc003yik.2_Nonsense_Mutation_p.Q538*	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	538					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GAAAGTTAGACAGCTGCTTCT	0.413												
STK3	6788	broad.mit.edu	37	8	99761554	99761554	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:99761554A>G	uc003yip.2	-	4	442	c.301T>C	c.(301-303)TAC>CAC	p.Y101H	STK3_uc003yio.2_Missense_Mutation_p.Y129H|STK3_uc010mbm.1_Missense_Mutation_p.Y101H	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	101	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GCGCCACAGTACTCCATAACA	0.299												
RGS22	26166	broad.mit.edu	37	8	101084439	101084439	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:101084439C>T	uc003yjb.1	-	5	554	c.359G>A	c.(358-360)GGT>GAT	p.G120D	RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Missense_Mutation_p.G120D|RGS22_uc011lgz.1_5'Flank|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	120					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCACTTAATACCTTCTTCACG	0.323												
TM7SF4	81501	broad.mit.edu	37	8	105361304	105361304	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:105361304T>C	uc003ylx.1	+	2	573	c.524T>C	c.(523-525)CTT>CCT	p.L175P		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	175					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCAGTCTCTCTTTTCAGTCCC	0.473												
PKHD1L1	93035	broad.mit.edu	37	8	110499026	110499026	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:110499026A>G	uc003yne.2	+	59	9960	c.9856A>G	c.(9856-9858)ACT>GCT	p.T3286A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3286	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGCTCATTCACTGAAAATAT	0.368										HNSCC(38;0.096)		
TRPS1	7227	broad.mit.edu	37	8	116426822	116426822	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:116426822T>C	uc003ynz.2	-	6	3734	c.3275A>G	c.(3274-3276)TAC>TGC	p.Y1092C	TRPS1_uc011lhy.1_Missense_Mutation_p.Y1096C|TRPS1_uc003yny.2_Missense_Mutation_p.Y1105C|TRPS1_uc010mcy.2_Missense_Mutation_p.Y1092C	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1092	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AAAAAGTGGGTACTGGTACTT	0.453									Langer-Giedion_syndrome			
TAF2	6873	broad.mit.edu	37	8	120800681	120800681	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:120800681G>A	uc003you.2	-	14	1960	c.1690C>T	c.(1690-1692)CTT>TTT	p.L564F		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	564					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTCACTTTAAGTGGTCCCTTT	0.323												
WDYHV1	55093	broad.mit.edu	37	8	124449570	124449570	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:124449570T>C	uc003yqn.1	+	5	629	c.504T>C	c.(502-504)ACT>ACC	p.T168T	WDYHV1_uc011lij.1_Silent_p.T108T|WDYHV1_uc003yqo.1_RNA	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	168					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			ovary(1)|skin(1)	2						GCATTGAGACTGGAGGTGAGC	0.463												
FER1L6	654463	broad.mit.edu	37	8	124989707	124989707	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:124989707G>T	uc003yqw.2	+	10	1127	c.921G>T	c.(919-921)CAG>CAT	p.Q307H		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	307	C2 2.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGCATGAACAGGTGATCTTCA	0.512												
MTSS1	9788	broad.mit.edu	37	8	125565673	125565673	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:125565673G>T	uc003yrk.2	-	14	2362	c.1828C>A	c.(1828-1830)CCC>ACC	p.P610T	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.P259T|MTSS1_uc011lin.1_Missense_Mutation_p.P384T|MTSS1_uc011lio.1_Missense_Mutation_p.P500T|MTSS1_uc003yri.2_Missense_Mutation_p.P328T|MTSS1_uc003yrj.2_Missense_Mutation_p.P585T|MTSS1_uc003yrl.2_Missense_Mutation_p.P614T	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	610	Pro-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTCTTGATGGGGATGGGACCA	0.637												
ADCY8	114	broad.mit.edu	37	8	132051861	132051861	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:132051861G>A	uc003ytd.3	-	1	975	c.719C>T	c.(718-720)ACG>ATG	p.T240M	ADCY8_uc010mds.2_Missense_Mutation_p.T240M	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	240					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGCAGGTACGTGTGGGAGGT	0.647										HNSCC(32;0.087)		
KCNQ3	3786	broad.mit.edu	37	8	133152330	133152330	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:133152330C>A	uc003ytj.2	-	11	1786	c.1561G>T	c.(1561-1563)GCC>TCC	p.A521S	KCNQ3_uc010mdt.2_Missense_Mutation_p.A521S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	521					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)			TACCTGACGGCTCGGATGGCG	0.597												
SLC45A4	57210	broad.mit.edu	37	8	142225974	142225974	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:142225974C>T	uc003ywd.1	-	6	1980	c.1672G>A	c.(1672-1674)GCC>ACC	p.A558T	SLC45A4_uc003ywc.1_Missense_Mutation_p.A558T|SLC45A4_uc010meq.1_Missense_Mutation_p.A556T	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	609	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGAAACATGGCCATCACGGCT	0.587												
ARC	23237	broad.mit.edu	37	8	143695260	143695260	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:143695260G>A	uc003ywn.1	-	1	574	c.373C>T	c.(373-375)CGC>TGC	p.R125C		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	125					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)				TCGGCCCAGCGCTCCAGGCGG	0.701												
EPPK1	83481	broad.mit.edu	37	8	144943163	144943163	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:144943163C>T	uc003zaa.1	-	1	4272	c.4259G>A	c.(4258-4260)CGC>CAC	p.R1420H		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1420	Plectin 25.					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)			GCACACGCAGCGCTCCCTGAG	0.607												
PLEC	5339	broad.mit.edu	37	8	145004449	145004449	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:145004449A>G	uc003zaf.1	-	21	3056	c.2886T>C	c.(2884-2886)GGT>GGC	p.G962G	PLEC_uc003zab.1_Silent_p.G825G|PLEC_uc003zac.1_Silent_p.G829G|PLEC_uc003zad.2_Silent_p.G825G|PLEC_uc003zae.1_Silent_p.G793G|PLEC_uc003zag.1_Silent_p.G803G|PLEC_uc003zah.2_Silent_p.G811G|PLEC_uc003zaj.2_Silent_p.G852G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	962	Globular 1.				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						GGCACTCGTCACCCTTGTGCA	0.711												
CPSF1	29894	broad.mit.edu	37	8	145624857	145624857	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:145624857T>C	uc003zcj.2	-	13	1354	c.1279A>G	c.(1279-1281)ACG>GCG	p.T427A		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	427					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)			CAGCCGGCCGTCGCATCCACT	0.672												
SLC39A4	55630	broad.mit.edu	37	8	145640211	145640211	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:145640211C>T	uc003zcq.2	-	5	974	c.874G>A	c.(874-876)GCC>ACC	p.A292T	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_Missense_Mutation_p.A16T|SLC39A4_uc003zcp.2_Missense_Mutation_p.A267T	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	292	Extracellular (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TGGGCCCAGGCCTCCGGGGTC	0.677												
PPP1R16A	84988	broad.mit.edu	37	8	145722764	145722764	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:145722764C>T	uc003zdd.2	+	2	1100	c.187C>T	c.(187-189)CTC>TTC	p.L63F	uc003zde.1_Missense_Mutation_p.S117N|PPP1R16A_uc003zdf.2_Missense_Mutation_p.L63F	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	63				Missing (in Ref. 1; BAC03452).		plasma membrane	protein binding				0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGCCAAGGGCTCCTGAAGCA	0.652												
DMRT3	58524	broad.mit.edu	37	9	990229	990229	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:990229G>A	uc003zgw.1	+	2	681	c.643G>A	c.(643-645)GAG>AAG	p.E215K		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	215					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGGCAACCCCGAGAGCCGCCC	0.587												
FREM1	158326	broad.mit.edu	37	9	14819329	14819329	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:14819329G>A	uc003zlm.2	-	14	3039	c.2449C>T	c.(2449-2451)CGG>TGG	p.R817W	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	817	CSPG 5.				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)		GGCAATTCCCGCAGGGAGAGG	0.478												
CNTLN	54875	broad.mit.edu	37	9	17394904	17394904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:17394904C>T	uc003zmz.2	+	15	2478	c.2452C>T	c.(2452-2454)CGA>TGA	p.R818*	CNTLN_uc003zmy.2_Nonsense_Mutation_p.R818*|CNTLN_uc010mio.2_Nonsense_Mutation_p.R497*	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	818						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		GAGATCTGGACGATATGATTG	0.418												
C9orf82	79886	broad.mit.edu	37	9	26842399	26842399	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:26842399A>C	uc003zqc.2	-	6	998	c.986T>G	c.(985-987)GTT>GGT	p.V329G	C9orf82_uc003zqb.2_Missense_Mutation_p.V184G	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN	hypothetical protein LOC79886	329											0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AGAAGGTTGAACATCTTCTGG	0.473												
TEK	7010	broad.mit.edu	37	9	27212816	27212816	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:27212816C>T	uc003zqi.3	+	17	3240	c.2798C>T	c.(2797-2799)GCG>GTG	p.A933V	TEK_uc011lno.1_Missense_Mutation_p.A890V|TEK_uc011lnp.1_Missense_Mutation_p.A785V	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	933	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AATAGCACCGCGTCCACACTG	0.592												
DDX58	23586	broad.mit.edu	37	9	32481366	32481366	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:32481366G>A	uc003zra.2	-	11	1768	c.1610C>T	c.(1609-1611)GCC>GTC	p.A537V	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.A492V|DDX58_uc011lnr.1_Missense_Mutation_p.A334V|DDX58_uc010mji.2_Missense_Mutation_p.A466V	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	537					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)		TAAAAACAGGGCTTTACAAAT	0.433												
VCP	7415	broad.mit.edu	37	9	35062113	35062113	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:35062113C>T	uc003zvy.2	-	9	1357	c.968G>A	c.(967-969)CGC>CAC	p.R323H	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.R278H	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	323					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGATACAATGCGCCGCTCCAC	0.537												
FAM166B	730112	broad.mit.edu	37	9	35563010	35563010	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:35563010A>G	uc010mkr.2	-	3	425	c.354T>C	c.(352-354)AGT>AGC	p.S118S	FAM166B_uc011lov.1_Silent_p.S118S|FAM166B_uc011low.1_Silent_p.S118S|FAM166B_uc003zwy.2_Silent_p.S118S	NM_001164310	NP_001157782	A8MTA8	F166B_HUMAN	hypothetical protein LOC730112 isoform 1	118											0						GAGTAAAGTCACTCAGAGCCT	0.552												
ZBTB5	9925	broad.mit.edu	37	9	37442081	37442081	+	Silent	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:37442081T>C	uc003zzx.2	-	2	668	c.468A>G	c.(466-468)TCA>TCG	p.S156S		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		AATTGAGGGCTGAGCTCACGA	0.627												
FRMPD1	22844	broad.mit.edu	37	9	37744566	37744566	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:37744566A>G	uc004aag.1	+	16	2581	c.2537A>G	c.(2536-2538)TAC>TGC	p.Y846C	FRMPD1_uc004aah.1_Missense_Mutation_p.Y846C	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	846						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		CAGACCGACTACACCTCTCAG	0.562												
TRPM3	80036	broad.mit.edu	37	9	73399051	73399051	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:73399051G>A	uc004aid.2	-	7	1362	c.1118C>T	c.(1117-1119)GCC>GTC	p.A373V	TRPM3_uc004ahu.2_Missense_Mutation_p.A203V|TRPM3_uc004ahv.2_Missense_Mutation_p.A203V|TRPM3_uc004ahw.2_Missense_Mutation_p.A245V|TRPM3_uc004ahx.2_Missense_Mutation_p.A220V|TRPM3_uc004ahy.2_Missense_Mutation_p.A245V|TRPM3_uc004ahz.2_Missense_Mutation_p.A220V|TRPM3_uc004aia.2_Missense_Mutation_p.A220V|TRPM3_uc004aib.2_Missense_Mutation_p.A220V|TRPM3_uc004aic.2_Missense_Mutation_p.A373V|TRPM3_uc010mor.2_Missense_Mutation_p.A373V|TRPM3_uc004aie.2_Missense_Mutation_p.A220V|TRPM3_uc004aif.2_Missense_Mutation_p.A245V|TRPM3_uc004aig.2_Missense_Mutation_p.A220V	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	398	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						ATGCCCAAAGGCCAGGATGTC	0.522												
TMEM2	23670	broad.mit.edu	37	9	74309493	74309493	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:74309493A>G	uc011lsa.1	-	21	4168	c.3628T>C	c.(3628-3630)TAC>CAC	p.Y1210H	TMEM2_uc011lrz.1_Missense_Mutation_p.Y203H|TMEM2_uc010mos.2_Missense_Mutation_p.Y1147H|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_Missense_Mutation_p.Y44H	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1210						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACAGGGAGGTAACTTTTATGA	0.398												
TMC1	117531	broad.mit.edu	37	9	75406888	75406888	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:75406888C>T	uc004aiz.1	+	16	1851	c.1311C>T	c.(1309-1311)ATC>ATT	p.I437I	TMC1_uc010moz.1_Silent_p.I395I|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.I291I|TMC1_uc010mpa.1_Silent_p.I291I	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	437	Extracellular (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						ATCCTCTCATCGCTTTGAAAT	0.393												
TRPM6	140803	broad.mit.edu	37	9	77454951	77454951	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:77454951C>T	uc004ajl.1	-	5	771	c.533G>A	c.(532-534)GGC>GAC	p.G178D	TRPM6_uc004ajk.1_Missense_Mutation_p.G173D|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.G178D|TRPM6_uc010mpd.1_Missense_Mutation_p.G178D|TRPM6_uc010mpe.1_Missense_Mutation_p.G178D|TRPM6_uc004ajn.1_Missense_Mutation_p.G178D	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	178	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						TGTATTGATGCCTTCAGTTAT	0.244												
PRUNE2	158471	broad.mit.edu	37	9	79229502	79229502	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:79229502A>G	uc010mpk.2	-	19	9375	c.9251T>C	c.(9250-9252)CTG>CCG	p.L3084P	PRUNE2_uc011lsk.1_Missense_Mutation_p.L333P|PRUNE2_uc011lsl.1_Missense_Mutation_p.L348P|PRUNE2_uc011lsm.1_Missense_Mutation_p.L320P|PRUNE2_uc004akj.3_Missense_Mutation_p.L538P	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	3084					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CTTTTCTTTCAGCTTCAAGTC	0.388												
FOXB2	442425	broad.mit.edu	37	9	79635344	79635344	+	Silent	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:79635344G>T	uc004ako.1	+	1	774	c.774G>T	c.(772-774)GCG>GCT	p.A258A		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	258	Poly-Ala.				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						ctgccgccgcggccgcGGCGT	0.453												
FOXB2	442425	broad.mit.edu	37	9	79635350	79635350	+	Silent	SNP	G	G	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:79635350G>C	uc004ako.1	+	1	780	c.780G>C	c.(778-780)GCG>GCC	p.A260A		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	260	Poly-Ala.				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						ccgcggccgcGGCGTCCACGT	0.478												
ROR2	4920	broad.mit.edu	37	9	94487069	94487069	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:94487069C>T	uc004arj.1	-	9	1906	c.1707G>A	c.(1705-1707)TCG>TCA	p.S569S	ROR2_uc004ari.1_Silent_p.S429S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	569	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						CCGAGTGCGGCGAGCGCATGA	0.652												
NOL8	55035	broad.mit.edu	37	9	95077545	95077545	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:95077545A>G	uc004arv.2	-	7	1699	c.1362T>C	c.(1360-1362)AGT>AGC	p.S454S	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Silent_p.S386S	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	454				S -> G (in Ref. 3; BAB14857).	DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						CTTCACTGCTACTGGAGTGAG	0.403												
OGN	4969	broad.mit.edu	37	9	95152283	95152283	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:95152283A>G	uc004asa.2	-	5	718	c.483T>C	c.(481-483)GGT>GGC	p.G161G	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asb.2_Silent_p.G161G|OGN_uc011ltx.1_Silent_p.G179G	NM_014057	NP_054776	P20774	MIME_HUMAN	osteoglycin preproprotein	161	LRR 3.					extracellular space|proteinaceous extracellular matrix	growth factor activity				0						TTGAAAAAGTACCATCTTCTA	0.303												
ZNF484	83744	broad.mit.edu	37	9	95618525	95618525	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:95618525T>C	uc004asu.1	-	3	240	c.91A>G	c.(91-93)AGC>GGC	p.S31G	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.S33G|ZNF484_uc010mrb.1_5'UTR|ZNF484_uc004asv.1_5'UTR	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTGTACAGGCTTTTCTGAGCA	0.398												
CDC14B	8555	broad.mit.edu	37	9	99272005	99272005	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:99272005G>A	uc004awj.2	-	13	1862	c.1410C>T	c.(1408-1410)GGC>GGT	p.G470G	CDC14B_uc004awk.2_Intron|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Silent_p.G433G	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	470					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TTTTAGTAATGCCTGCACTGC	0.358												
GRIN3A	116443	broad.mit.edu	37	9	104449268	104449268	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:104449268T>C	uc004bbp.1	-	2	1515	c.914A>G	c.(913-915)CAG>CGG	p.Q305R	GRIN3A_uc004bbq.1_Missense_Mutation_p.Q305R	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	305	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CAAGAGGTCCTGGGTGGAGGG	0.498												
ZNF462	58499	broad.mit.edu	37	9	109689899	109689899	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:109689899C>A	uc004bcz.2	+	3	3995	c.3706C>A	c.(3706-3708)CTC>ATC	p.L1236I	ZNF462_uc010mto.2_Missense_Mutation_p.L1084I|ZNF462_uc004bda.2_Missense_Mutation_p.L1084I	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1236					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CATTCGAAGCCTCTGCGACCG	0.537												
ROD1	9991	broad.mit.edu	37	9	114986256	114986256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:114986256G>A	uc004bfw.2	-	15	1721	c.1534C>T	c.(1534-1536)CGC>TGC	p.R512C	ROD1_uc004bfv.2_Missense_Mutation_p.R518C|ROD1_uc004bfx.2_Missense_Mutation_p.R515C|ROD1_uc011lwu.1_Missense_Mutation_p.R484C|ROD1_uc004bfy.2_Missense_Mutation_p.R417C|ROD1_uc004bfz.2_Intron	NM_005156	NP_005147	O95758	ROD1_HUMAN	ROD1 regulator of differentiation 1 isoform 1	512	RRM 4.				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1						GCCATTTTGCGATCTTTCCTG	0.403												
SLC46A2	57864	broad.mit.edu	37	9	115652551	115652551	+	Silent	SNP	G	G	A	rs144776162		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:115652551G>A	uc004bgk.2	-	1	643	c.411C>T	c.(409-411)TAC>TAT	p.Y137Y		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	137	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						CCGCCGCCCCGTACAGCACCT	0.682												
COL27A1	85301	broad.mit.edu	37	9	116999992	116999992	+	Silent	SNP	C	C	A	rs142957409	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:116999992C>A	uc011lxl.1	+	19	2724	c.2724C>A	c.(2722-2724)CCC>CCA	p.P908P	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	908	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CCCCTGGACCCGAGGTATGTG	0.488												
AKNA	80709	broad.mit.edu	37	9	117124104	117124104	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:117124104C>T	uc004biq.3	-	8	2139	c.2004G>A	c.(2002-2004)CCG>CCA	p.P668P	AKNA_uc004bin.3_5'Flank|AKNA_uc004bio.3_Silent_p.P128P|AKNA_uc004bip.3_Silent_p.P587P|AKNA_uc004bir.3_Silent_p.P668P|AKNA_uc004bis.3_Silent_p.P668P|AKNA_uc010mve.2_Silent_p.P549P|AKNA_uc004biu.1_Silent_p.P409P|AKNA_uc004biv.1_Silent_p.P668P	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						CTGACCCGGGCGGCTCAGGCT	0.617												
ASTN2	23245	broad.mit.edu	37	9	119188283	119188283	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:119188283G>A	uc004bjs.1	-	23	3968	c.3867C>T	c.(3865-3867)CGC>CGT	p.R1289R	ASTN2_uc004bjr.1_Silent_p.R1285R|ASTN2_uc004bjt.1_Silent_p.R1238R|ASTN2_uc004bjp.1_Silent_p.R382R|ASTN2_uc004bjq.1_Silent_p.R341R|ASTN2_uc011lxr.1_Silent_p.R341R|ASTN2_uc011lxs.1_Silent_p.R341R|ASTN2_uc011lxt.1_Silent_p.R341R|ASTN2_uc004bjo.1_Silent_p.R70R	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	1289	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CTGTTTCCACGCGGCTCTGGA	0.582												
NEK6	10783	broad.mit.edu	37	9	127074912	127074912	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:127074912C>T	uc004bog.2	+	3	364	c.215C>T	c.(214-216)GCT>GTT	p.A72V	NEK6_uc004bof.2_Missense_Mutation_p.A90V|NEK6_uc004boh.2_Missense_Mutation_p.A106V|NEK6_uc010mwj.2_Intron|NEK6_uc010mwk.2_Missense_Mutation_p.A72V|NEK6_uc004boi.2_Missense_Mutation_p.A72V	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	72	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3						AAGACAGTGGCTCTGAAGAAG	0.607												
OLFML2A	169611	broad.mit.edu	37	9	127566549	127566549	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:127566549A>G	uc004bov.2	+	6	1209	c.1096A>G	c.(1096-1098)ACC>GCC	p.T366A	OLFML2A_uc010mwr.1_Missense_Mutation_p.T330A|OLFML2A_uc004bow.2_Missense_Mutation_p.T152A	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A precursor	366	Thr-rich.										0						caccaccgccaccaccacccc	0.453												
SLC2A8	29988	broad.mit.edu	37	9	130167812	130167812	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:130167812T>A	uc004bqu.2	+	9	1309	c.1264T>A	c.(1264-1266)TTT>ATT	p.F422I	SLC2A8_uc010mxj.2_Intron|SLC2A8_uc004bqv.2_Missense_Mutation_p.F94I	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose	422	Helical; Name=11; (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						GCTCATGGCCTTTCTCGTGAC	0.592												
C9orf117	286207	broad.mit.edu	37	9	130469311	130469311	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:130469311A>G	uc004brn.1	+	1	41	c.1A>G	c.(1-3)ATG>GTG	p.M1V	PTRH1_uc004brm.2_Intron|C9orf117_uc010mxl.1_RNA	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	hypothetical protein LOC286207	1											0						GCCATCAGCCATGGCTCCCAA	0.617												
LCN2	3934	broad.mit.edu	37	9	130913980	130913980	+	Silent	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:130913980G>A	uc004bto.1	+	3	412	c.339G>A	c.(337-339)ACG>ACA	p.T113T	LCN2_uc011map.1_Silent_p.T113T	NM_005564	NP_005555	P80188	NGAL_HUMAN	lipocalin 2 precursor	113					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity				0						GCGAGTTCACGCTGGGCAACA	0.582												
COQ4	51117	broad.mit.edu	37	9	131095136	131095136	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:131095136C>T	uc004bur.3	+	6	887	c.540C>T	c.(538-540)ATC>ATT	p.I180I	COQ4_uc004bus.2_Silent_p.I156I|COQ4_uc010mxy.2_Silent_p.I156I	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	coenzyme Q4 homolog precursor	180					ubiquinone biosynthetic process	mitochondrial inner membrane					0						CAGGGGAGATCGTGGTGAAAT	0.542												
C9orf114	51490	broad.mit.edu	37	9	131586433	131586433	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:131586433G>A	uc004bwd.2	-	10	858	c.832C>T	c.(832-834)CCC>TCC	p.P278S	C9orf114_uc004bwe.2_Missense_Mutation_p.P278S|C9orf114_uc010mym.2_RNA	NM_016390	NP_057474	Q5T280	CI114_HUMAN	hypothetical protein LOC51490	278											0						TCTTGGAAGGGGGCCTCAGCA	0.612												
DOLK	22845	broad.mit.edu	37	9	131708573	131708573	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:131708573C>T	uc004bwr.2	-	1	1440	c.1010G>A	c.(1009-1011)CGA>CAA	p.R337Q	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	337	Cytoplasmic (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						GAAATACTTTCGGGCGATGGT	0.577												
NUP214	8021	broad.mit.edu	37	9	134022878	134022878	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:134022878A>G	uc004cag.2	+	14	2058	c.1947A>G	c.(1945-1947)GGA>GGG	p.G649G	NUP214_uc004cah.2_Silent_p.G639G|NUP214_uc004cai.2_Silent_p.G79G|NUP214_uc004caf.1_Silent_p.G638G|NUP214_uc010mzf.2_Intron	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	649	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTCAAGCAGGACGATCTGCTC	0.438			T	DEK|SET|ABL1	AML|T-ALL							
NUP214	8021	broad.mit.edu	37	9	134073099	134073099	+	Silent	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:134073099C>A	uc004cag.2	+	29	4329	c.4218C>A	c.(4216-4218)TCC>TCA	p.S1406S	NUP214_uc004cah.2_Silent_p.S1396S|NUP214_uc004cai.2_Silent_p.S836S|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Silent_p.S232S|NUP214_uc011mcf.1_Silent_p.S183S|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	1406	Pro/Ser/Thr-rich.|11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCAGCACTTCCTCAACTGCCG	0.552			T	DEK|SET|ABL1	AML|T-ALL							
DDX31	64794	broad.mit.edu	37	9	135522411	135522411	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:135522411A>G	uc004cbq.1	-	12	1469	c.1317T>C	c.(1315-1317)GAT>GAC	p.D439D	DDX31_uc010mzu.1_Silent_p.D439D|DDX31_uc004cbr.1_Silent_p.D439D	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	439	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TACTGACTGGATCATGCAAAC	0.493												
ADAMTS13	11093	broad.mit.edu	37	9	136320470	136320470	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:136320470C>A	uc004cdv.3	+	25	3757	c.3313C>A	c.(3313-3315)CAG>AAG	p.Q1105K	ADAMTS13_uc004cdp.3_Missense_Mutation_p.Q332K|ADAMTS13_uc004cdt.1_Missense_Mutation_p.Q1105K|ADAMTS13_uc004cdu.1_Missense_Mutation_p.Q1074K|ADAMTS13_uc004cdw.3_Missense_Mutation_p.Q1105K|ADAMTS13_uc004cdx.3_Missense_Mutation_p.Q1074K|ADAMTS13_uc004cdz.3_Missense_Mutation_p.Q775K|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.3_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1105	TSP type-1 8.				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)		ACCCCAGGCCCAGGCGCCTGT	0.667												
BRD3	8019	broad.mit.edu	37	9	136918511	136918511	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:136918511C>T	uc004cew.2	-	2	277	c.89G>A	c.(88-90)AGC>AAC	p.S30N	BRD3_uc004cex.2_Missense_Mutation_p.S30N	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	30						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GCCGGGCTTGCTGGGGTTGGA	0.677			T	NUT|C15orf55	lethal midline carcinoma of young people							
COL5A1	1289	broad.mit.edu	37	9	137644457	137644457	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:137644457G>A	uc004cfe.2	+	14	2067	c.1685G>A	c.(1684-1686)GGC>GAC	p.G562D		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	562	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGACCAGCTGGCCCGATGGGT	0.617												
KCNT1	57582	broad.mit.edu	37	9	138678163	138678163	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:138678163G>A	uc011mdq.1	+	29	3372	c.3298G>A	c.(3298-3300)GCA>ACA	p.A1100T	KCNT1_uc011mdr.1_Missense_Mutation_p.A927T|KCNT1_uc010nbf.2_Missense_Mutation_p.A1055T|KCNT1_uc004cgo.1_3'UTR	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1100						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)		CGGTGACCCCGCAGAGCACCC	0.746												
QSOX2	169714	broad.mit.edu	37	9	139107139	139107139	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:139107139T>C	uc010nbi.2	-	10	1259	c.1221A>G	c.(1219-1221)ATA>ATG	p.I407M		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	407					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TAGTAAGGAATATTCCAGAAA	0.358												
DNLZ	728489	broad.mit.edu	37	9	139256601	139256601	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:139256601C>T	uc004chf.1	-	3	475	c.400G>A	c.(400-402)GAG>AAG	p.E134K	DNLZ_uc011mdv.1_RNA	NM_001080849	NP_001074318	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	134	DNL-type.						metal ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		TGCACCTGCTCGCCTCTGGCC	0.672												
SEC16A	9919	broad.mit.edu	37	9	139353986	139353986	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:139353986G>A	uc004chx.2	-	16	5522	c.5213C>T	c.(5212-5214)GCG>GTG	p.A1738V	SEC16A_uc004chu.2_5'Flank|SEC16A_uc004chv.3_Missense_Mutation_p.A1128V|SEC16A_uc004chw.2_Missense_Mutation_p.A1738V|SEC16A_uc010nbn.2_Missense_Mutation_p.A1738V	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1560					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)		GAAGTGGGCCGCATCCAAGAG	0.567												
LCNL1	401562	broad.mit.edu	37	9	139879360	139879360	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:139879360A>T	uc004ckh.1	+	3	986	c.392A>T	c.(391-393)CAC>CTC	p.H131L		NM_207510	NP_997393	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	131							binding				0						CCCTTTCTGCACGCGGAAGGT	0.507												
CACNA1B	774	broad.mit.edu	37	9	140901268	140901268	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:140901268C>T	uc004cog.2	+	16	2169	c.2024C>T	c.(2023-2025)TCG>TTG	p.S675L	CACNA1B_uc011mfd.1_Missense_Mutation_p.S206L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	675	Extracellular (Potential).|II.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGGATCGAATCGCAAGGCGGC	0.572												
CACNA1B	774	broad.mit.edu	37	9	140952659	140952659	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:140952659A>C	uc004cog.2	+	28	4410	c.4265A>C	c.(4264-4266)CAG>CCG	p.Q1422P	CACNA1B_uc011mfd.1_Missense_Mutation_p.Q952P|CACNA1B_uc004coi.2_Missense_Mutation_p.Q636P	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1422	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTCCAGGAGCAGGGGGACAAG	0.537												
PPP2R3B	28227	broad.mit.edu	37	X	306359	306359	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:306359A>T	uc004cpg.2	-	7	1129	c.928T>A	c.(928-930)TTC>ATC	p.F310I	PPP2R3B_uc011mha.1_Missense_Mutation_p.F149I	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	310					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TACGAGAAGAATTCGGTCAGC	0.627												
HDHD1A	8226	broad.mit.edu	37	X	6995384	6995384	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:6995384C>T	uc004crv.2	-	3	464	c.387G>A	c.(385-387)GAG>GAA	p.E129E	HDHD1A_uc011mhm.1_Silent_p.E152E|HDHD1A_uc011mhn.1_Silent_p.E86E|HDHD1A_uc010ndl.2_Intron|HDHD1A_uc011mho.1_Silent_p.E129E	NM_012080	NP_036212	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain	129					nucleotide metabolic process		metal ion binding|phosphatase activity				0		Colorectal(8;0.0114)|Medulloblastoma(8;0.184)				AGCTGAAGAACTCCTTGTGGC	0.552												
STS	412	broad.mit.edu	37	X	7252076	7252076	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:7252076C>T	uc004cry.3	+	9	1551	c.1306C>T	c.(1306-1308)CGC>TGC	p.R436C		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	436	Lumenal.				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)	AAAAAGCCAACGCTCCGATCA	0.493									Ichthyosis			
KAL1	3730	broad.mit.edu	37	X	8502392	8502392	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:8502392C>T	uc004csf.2	-	13	2102	c.1952G>A	c.(1951-1953)CGG>CAG	p.R651Q		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	651	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						CTCCGGCGTCCGGAACGTCTT	0.572												
ASB11	140456	broad.mit.edu	37	X	15306176	15306176	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:15306176C>T	uc004cwp.1	-	6	674	c.674G>A	c.(673-675)GGC>GAC	p.G225D	ASB11_uc004cwo.1_Missense_Mutation_p.G204D|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.G208D	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box-containing protein	225					intracellular signal transduction					breast(2)|skin(1)	3	Hepatocellular(33;0.183)					CAGCCACTGGCCATGGTCGAC	0.463												
CDKL5	6792	broad.mit.edu	37	X	18622715	18622715	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:18622715A>G	uc004cym.2	+	12	1924	c.1671A>G	c.(1669-1671)TCA>TCG	p.S557S	CDKL5_uc004cyn.2_Silent_p.S557S	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	557					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					CGCTGGACTCACGTCGAACCA	0.517												
PTCHD1	139411	broad.mit.edu	37	X	23410726	23410726	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:23410726C>T	uc004dal.3	+	3	1099	c.1091C>T	c.(1090-1092)ACT>ATT	p.T364I		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	364	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						AAAGAGAGAACTGCAGCAGTC	0.463												
BCOR	54880	broad.mit.edu	37	X	39933822	39933822	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:39933822C>T	uc004den.3	-	4	1069	c.777G>A	c.(775-777)TCG>TCA	p.S259S	BCOR_uc004dep.3_Silent_p.S259S|BCOR_uc004deo.3_Silent_p.S259S|BCOR_uc004dem.3_Silent_p.S259S|BCOR_uc004deq.3_Silent_p.S259S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	259					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						ATGCCAAGGACGATGGGATGT	0.622												
MED14	9282	broad.mit.edu	37	X	40547715	40547715	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:40547715C>T	uc004dex.3	-	16	2188	c.2048G>A	c.(2047-2049)CGC>CAC	p.R683H		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	683	Interaction with SREBF1.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						CTTTAATAAGCGAATTGCATG	0.428												
SLC38A5	92745	broad.mit.edu	37	X	48320459	48320459	+	Silent	SNP	G	G	A	rs142925547	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:48320459G>A	uc010nid.2	-	11	883	c.705C>T	c.(703-705)CTC>CTT	p.L235L	SLC38A5_uc004djk.3_Silent_p.L184L	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	235	Extracellular (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				ovary(3)	3						GGAGTCCCACGAGAGCTTCAC	0.537												
KCND1	3750	broad.mit.edu	37	X	48826019	48826019	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:48826019C>T	uc004dlx.1	-	1	2233	c.660G>A	c.(658-660)GAG>GAA	p.E220E	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	220						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						CACAGGGCTGCTCCCTTGAGG	0.577												
SHROOM4	57477	broad.mit.edu	37	X	50350731	50350731	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:50350731C>T	uc004dpe.2	-	6	3437	c.3411G>A	c.(3409-3411)GAG>GAA	p.E1137E	SHROOM4_uc004dpd.3_RNA	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1137	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					cttcttcttcctcctcctcct	0.219												
MAGED1	9500	broad.mit.edu	37	X	51639798	51639798	+	Silent	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:51639798C>A	uc004dpm.2	+	4	1142	c.1047C>A	c.(1045-1047)ATC>ATA	p.I349I	MAGED1_uc004dpn.2_Silent_p.I405I|MAGED1_uc004dpo.2_Silent_p.I349I	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	349	6.|22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					ACCCAGTAATCTGGCAGAACC	0.612										Multiple Myeloma(10;0.10)		
AR	367	broad.mit.edu	37	X	66765883	66765883	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:66765883G>A	uc004dwu.1	+	1	2010	c.895G>A	c.(895-897)GCA>ACA	p.A299T	AR_uc011mpd.1_Missense_Mutation_p.A299T|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.A299T	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	297	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AGACGACAGCGCAGGCAAGAG	0.572									Androgen_Insensitivity_Syndrome			
FAM155B	27112	broad.mit.edu	37	X	68725963	68725963	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:68725963C>T	uc004dxk.2	+	1	886	c.838C>T	c.(838-840)CGG>TGG	p.R280W		NM_015686	NP_056501	O75949	F155B_HUMAN	transmembrane protein 28	280						integral to membrane				ovary(1)|breast(1)	2						GTACTCAATCCGGTCCTGCAC	0.587												
NLGN3	54413	broad.mit.edu	37	X	70368014	70368014	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:70368014G>A	uc004dzd.1	+	1	615	c.415G>A	c.(415-417)GAA>AAA	p.E139K	NLGN3_uc010nlb.1_Missense_Mutation_p.E139K|NLGN3_uc004dzb.2_Missense_Mutation_p.E139K|NLGN3_uc004dzc.2_Missense_Mutation_p.E22K|NLGN3_uc011mps.1_Missense_Mutation_p.E139K|NLGN3_uc011mpr.1_Missense_Mutation_p.E139K	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	139	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)					GGAGCCCAACGAAGACTGTCT	0.597												
ERCC6L	54821	broad.mit.edu	37	X	71425719	71425719	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:71425719A>T	uc004eaq.1	-	2	2995	c.2898T>A	c.(2896-2898)AAT>AAA	p.N966K	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.N843K	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	966					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					GACTGGAAAAATTTTGTCTGT	0.423												
BRWD3	254065	broad.mit.edu	37	X	79962956	79962956	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:79962956A>G	uc004edt.2	-	22	2785	c.2522T>C	c.(2521-2523)GTT>GCT	p.V841A	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.V437A|BRWD3_uc004edp.2_Missense_Mutation_p.V670A|BRWD3_uc004edq.2_Missense_Mutation_p.V437A|BRWD3_uc010nmj.1_Missense_Mutation_p.V437A|BRWD3_uc004edr.2_Missense_Mutation_p.V511A|BRWD3_uc004eds.2_Missense_Mutation_p.V437A|BRWD3_uc004edu.2_Missense_Mutation_p.V511A|BRWD3_uc004edv.2_Missense_Mutation_p.V437A|BRWD3_uc004edw.2_Missense_Mutation_p.V437A|BRWD3_uc004edx.2_Missense_Mutation_p.V437A|BRWD3_uc004edy.2_Missense_Mutation_p.V437A|BRWD3_uc004edz.2_Missense_Mutation_p.V511A|BRWD3_uc004eea.2_Missense_Mutation_p.V511A|BRWD3_uc004eeb.2_Missense_Mutation_p.V437A	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	841										ovary(4)	4						CCATTCAACAACAGGATCCTC	0.348												
CPXCR1	53336	broad.mit.edu	37	X	88009023	88009023	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:88009023A>T	uc004efd.3	+	3	867	c.608A>T	c.(607-609)CAC>CTC	p.H203L	CPXCR1_uc004efc.3_Missense_Mutation_p.H203L	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	203						intracellular	zinc ion binding			ovary(3)	3						TCGAGGGTGCACTACTACCGT	0.428												
PCDH19	57526	broad.mit.edu	37	X	99663109	99663109	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:99663109C>T	uc010nmz.2	-	1	2163	c.487G>A	c.(487-489)GTG>ATG	p.V163M	PCDH19_uc004efw.3_Missense_Mutation_p.V163M|PCDH19_uc004efx.3_Missense_Mutation_p.V163M	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	163	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						TAAGTCTGCACGCCAAAGCTT	0.637												
GPRASP2	114928	broad.mit.edu	37	X	101971716	101971716	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:101971716T>C	uc004ejk.2	+	4	3253	c.1919T>C	c.(1918-1920)GTC>GCC	p.V640A	GPRASP2_uc004ejl.2_Missense_Mutation_p.V640A|GPRASP2_uc004ejm.2_Missense_Mutation_p.V640A|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	640						cytoplasm	protein binding			ovary(1)	1						TCAGGTGTTGTCTCACTTATT	0.348												
H2BFWT	158983	broad.mit.edu	37	X	103267750	103267750	+	Silent	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:103267750A>G	uc004elr.2	-	1	507	c.483T>C	c.(481-483)GCT>GCC	p.A161A		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	161					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1						ACCTGAGGACAGCCTTCGTGC	0.637												
GLUD2	2747	broad.mit.edu	37	X	120182454	120182454	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:120182454G>T	uc004eto.2	+	1	993	c.916G>T	c.(916-918)GTT>TTT	p.V306F		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	306					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	AACATTTGTTGTTCAGGGATT	0.398												
STAG2	10735	broad.mit.edu	37	X	123164875	123164875	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:123164875C>A	uc004etz.3	+	4	527	c.188C>A	c.(187-189)CCT>CAT	p.P63H	STAG2_uc004eua.2_Missense_Mutation_p.P63H|STAG2_uc004eub.2_Missense_Mutation_p.P63H|STAG2_uc004euc.2_Missense_Mutation_p.P63H|STAG2_uc004eud.2_Missense_Mutation_p.P63H|STAG2_uc004eue.2_Missense_Mutation_p.P63H	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	63					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						GGAGGAAAACCTCCTTCTGGT	0.418												
STAG2	10735	broad.mit.edu	37	X	123185062	123185062	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:123185062G>A	uc004etz.3	+	11	1448	c.1109G>A	c.(1108-1110)CGG>CAG	p.R370Q	STAG2_uc004eua.2_Missense_Mutation_p.R370Q|STAG2_uc004eub.2_Missense_Mutation_p.R370Q|STAG2_uc004euc.2_Missense_Mutation_p.R370Q|STAG2_uc004eud.2_Missense_Mutation_p.R370Q|STAG2_uc004eue.2_Missense_Mutation_p.R370Q	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	370	SCD.				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						TTTACCAGTCGGTTCAAGGTT	0.294												
DCAF12L1	139170	broad.mit.edu	37	X	125686323	125686323	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:125686323C>T	uc004eul.2	-	1	520	c.269G>A	c.(268-270)CGC>CAC	p.R90H		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	90										skin(3)|ovary(1)	4						CTCCAGTTGGCGCTCCGTCAG	0.662												
OCRL	4952	broad.mit.edu	37	X	128723914	128723914	+	Silent	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:128723914C>T	uc004euq.2	+	23	2727	c.2562C>T	c.(2560-2562)AGC>AGT	p.S854S	OCRL_uc004eur.2_Silent_p.S846S|OCRL_uc010nrb.2_Intron	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	854	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4						AATACAATAGCGTCAATGCCA	0.408												
BCORL1	63035	broad.mit.edu	37	X	129185910	129185910	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:129185910T>C	uc004evb.1	+	12	4886	c.4772T>C	c.(4771-4773)ATG>ACG	p.M1591T	BCORL1_uc004evc.1_Missense_Mutation_p.M427T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1591					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GACGATCCGATGGAGGAGGAT	0.507												
CNGA2	1260	broad.mit.edu	37	X	150908125	150908125	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:150908125C>T	uc004fey.1	+	4	519	c.295C>T	c.(295-297)CGT>TGT	p.R99C		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	99	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CGAGCGTTTTCGTGGGCCTGA	0.552												
PLXNB3	5365	broad.mit.edu	37	X	153043732	153043732	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:153043732A>T	uc004fii.2	+	33	5600	c.5426A>T	c.(5425-5427)AAA>ATA	p.K1809I	PLXNB3_uc010nuk.2_Missense_Mutation_p.K1832I|PLXNB3_uc011mzd.1_Missense_Mutation_p.K1448I|SRPK3_uc004fik.2_5'UTR|SRPK3_uc010nul.2_5'Flank|SRPK3_uc004fin.2_5'Flank|SRPK3_uc004fil.2_5'Flank|SRPK3_uc004fim.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1809	Cytoplasmic (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)					CCAGTGAACAAACTGCTCTAC	0.652												
AVPR2	554	broad.mit.edu	37	X	153172147	153172147	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:153172147G>A	uc004fjh.3	+	3	1152	c.1081G>A	c.(1081-1083)GCC>ACC	p.A361T	AVPR2_uc004fjg.3_Missense_Mutation_p.A150T|AVPR2_uc004fji.2_3'UTR	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	361	Cytoplasmic (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGCACCACCGCCAGCTCCTC	0.627												
RPL10	6134	broad.mit.edu	37	X	153631751	153631751	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:153631751A>G	uc004fkr.1	+	3	450	c.415A>G	c.(415-417)ATC>GTC	p.I139V	RPL10_uc004fkq.1_RNA|DNASE1L1_uc004fks.1_Intron|DNASE1L1_uc004fkt.1_Intron|DNASE1L1_uc004fku.1_Intron|DNASE1L1_uc004fkv.1_Intron|DNASE1L1_uc004fkw.1_Intron	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	Error:Variant_position_missing_in_P27635_after_alignment					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAGGGCTGCCATCCACTCCTG	0.642												
ATP6AP1	537	broad.mit.edu	37	X	153663742	153663742	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:153663742G>A	uc004flf.1	+	9	1155	c.1094G>A	c.(1093-1095)AGC>AAC	p.S365N	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.S325N|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	365					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(3)|breast(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACAGGGCCCAGCATCTACTCC	0.597												
GDI1	2664	broad.mit.edu	37	X	153670511	153670511	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:153670511T>C	uc004fli.3	+	9	1387	c.1045T>C	c.(1045-1047)TAC>CAC	p.Y349H	GDI1_uc004flj.2_Missense_Mutation_p.Y14H|FAM50A_uc004fll.3_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	349					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGGGCAAGTACATAGCTAT	0.587												
USP9Y	8287	broad.mit.edu	37	Y	14898560	14898560	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrY:14898560A>G	uc004fst.1	+	24	4333	c.3388A>G	c.(3388-3390)ATG>GTG	p.M1130V	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	1130					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						TGTACTGAGTATGCTAATAAG	0.393												
CDH16	1014	broad.mit.edu	37	16	66947518	66947519	+	Splice_Site	INS	-	-	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:66947518_66947519insG	uc002eql.2	-	8	854	c.781_splice	c.e8-1	p.V261_splice	CDH16_uc010cdy.2_Splice_Site_p.V261_splice|CDH16_uc002eqm.2_Splice_Site_p.V164_splice	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCAGTGTACCTGGGGGGGACAC	0.594												
CCDC144B	284047	broad.mit.edu	37	17	18483747	18483747	+	RNA	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:18483747delT	uc002gua.3	-	12		c.2679delA								Homo sapiens cDNA FLJ36492 fis, clone THYMU2018455.											ovary(1)|skin(1)	2						AGTTTTATAATTTTTTGAAGG	0.313												
ASPM	259266	broad.mit.edu	37	1	197091176	197091176	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:197091175_197091175TA>T	uc001gtu.3	-	16	3999	c.3742_splice	c.e16-1	p.V1248_splice	ASPM_uc001gtv.3_Splice_Site_p.V1248_splice|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1248					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATAACCACCTAAAAAAAACC	0.303												
PREPL	9581	broad.mit.edu	37	2	44550553	44550553	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333												
C2orf42	54980	broad.mit.edu	37	2	70406777	70406777	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:70406776_70406776TA>T	uc002sgh.3	-	4	1152	c.824_splice	c.e4-1	p.G275_splice		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	275										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTTAAGACCTAAAAAAAAGA	0.353												
SCRN3	79634	broad.mit.edu	37	2	175263005	175263005	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:175263004_175263004TA>T	uc002uiq.3	+	2	90	c.-8_splice	c.e2-1		CIR1_uc002uim.3_5'Flank|CIR1_uc002uin.3_5'Flank|SCRN3_uc010zen.2_Intron|SCRN3_uc010zeo.2_Splice_Site|SCRN3_uc002uir.1_Splice_Site	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	Homo sapiens secernin 3 (SCRN3), transcript variant 1, mRNA.						proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AATTTTTAGTTAAAAAAAATG	0.279												
COL25A1	84570	broad.mit.edu	37	4	109753592	109753592	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:109753591_109753591TA>T	uc021xqo.1	-	31	1713	c.1657_splice	c.e31-1	p.G553_splice	COL25A1_uc003hze.1_Splice_Site_p.G553_splice|COL25A1_uc021xqp.1_Splice_Site_p.G553_splice|COL25A1_uc003hzg.3_Splice_Site_p.G553_splice|COL25A1_uc003hzd.3_Splice_Site|COL25A1_uc003hzf.3_Splice_Site_p.G350_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	553						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATCTGTACCCTAAAAAAAAGA	0.393												
C5orf42	65250	broad.mit.edu	37	5	37167150	37167150	+	Splice_Site	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:37167149_37167149CT>C	uc011cpa.1	-	35	7631	c.7400_splice	c.e35+1	p.R2467_splice	C5orf42_uc011coy.1_Splice_Site_p.R967_splice|C5orf42_uc003jks.2_Splice_Site|C5orf42_uc011coz.1_Splice_Site_p.R1542_splice	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2467										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAAGCCTTGCCTTTTTTTACT	0.328												
HLA-A	3105	broad.mit.edu	37	6	29911900	29911900	+	Splice_Site	DEL	C	C	-	rs75368153		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:29911899_29911899AC>A	uc003nol.3	+	4	704	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCCCGTCAGACCCCCCCAAG	0.577									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)		
SGK3	23678	broad.mit.edu	37	8	67716612	67716612	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:67716611_67716611TA>T	uc003xwp.3	+	6	812	c.181_splice	c.e6-1	p.L61_splice	SGK3_uc003xwr.3_Splice_Site_p.L61_splice|SGK3_uc003xwt.3_Splice_Site_p.L61_splice|SGK3_uc003xwu.3_Splice_Site_p.L61_splice	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	61	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			aaattttagttaaaaaaaCAG	0.299												
STRBP	55342	broad.mit.edu	37	9	125910152	125910152	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:125910151_125910151TA>T	uc004bns.3	-	12	1488	c.1046_splice	c.e12-1	p.G349_splice	STRBP_uc004bnt.3_Splice_Site_p.G167_splice|STRBP_uc004bnu.3_Splice_Site_p.G335_splice|STRBP_uc004bnv.3_Splice_Site_p.G349_splice	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	349					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ACCCAGCACCTAAAAAAAATT	0.378												
GIF	2694	broad.mit.edu	37	11	59599272	59599272	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:59599271_59599271TA>T	uc001noi.3	-	8	1122	c.1074_splice	c.e8-1	p.K358_splice		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	358					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTTTCAAATCTAAAAAAAAGT	0.338												
APPL2	55198	broad.mit.edu	37	12	105570797	105570797	+	Splice_Site	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:105570796_105570796TG>T	uc010swu.1	-	19	1908	c.1690_splice	c.e19-1	p.F564_splice	APPL2_uc010swt.2_Splice_Site_p.F515_splice|APPL2_uc001tlf.1_Splice_Site_p.F558_splice|APPL2_uc001tlg.1_Splice_Site_p.F312_splice	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	558	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAGTTCAAACTGGGGGGTGGA	0.398												
CDH16	1014	broad.mit.edu	37	16	66947519	66947520	+	Splice_Site	INS	-	-	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:66947518_66947519T>TG	uc002eql.3	-	8	975	c.781_splice	c.e8-1	p.V261_splice	CDH16_uc010cdy.3_Splice_Site_p.V261_splice|CDH16_uc021tjx.1_Splice_Site_p.V261_splice|CDH16_uc002eqm.3_Splice_Site_p.V164_splice	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	261	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCAGTGTACCTGGGGGGGACAC	0.594												
GP1BA	2811	broad.mit.edu	37	17	4837373	4837374	+	RNA	INS	-	-	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:4837372_4837373C>CA	uc021toc.1	-	0		c.484_485G>TG			GP1BA_uc021tnz.1_Frame_Shift_Ins_p.T491fs|GP1BA_uc021toa.1_5'Flank|GP1BA_uc021tob.1_Frame_Shift_Ins_p.T491fs			E7ES66	E7ES66_HUMAN	Synthetic construct clone IMAGE:100003573; FLH167768.01X; RZPDo839F0190D glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, encodes complete protein.									p.T494fs*59(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TAGAATCCACCAAAAAAACCAT	0.500												
BPTF	2186	broad.mit.edu	37	17	65871139	65871139	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:65871138_65871138TA>T	uc002jgf.3	+	4	1925	c.1864_splice	c.e4+2	p.V622_splice	BPTF_uc002jge.3_Splice_Site_p.E622_splice|BPTF_uc010wqm.1_Splice_Site_p.E622_splice	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	748					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	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)			AATCTGAGGGTAAAAAAATTA	0.338												
ABCA5	23461	broad.mit.edu	37	17	67261049	67261049	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:67261048_67261048TA>T	uc002jif.2	-	23	4363	c.3145_splice	c.e23-1	p.I1049_splice	ABCA5_uc002jib.2_Splice_Site_p.I15_splice|ABCA5_uc002jic.2_Splice_Site_p.I272_splice|ABCA5_uc002jid.2_Intron|ABCA5_uc002jie.2_Splice_Site|ABCA5_uc002jig.2_Splice_Site_p.I1049_splice	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1049					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AGCTTTGATCTAAAAAAAATG	0.259												
PTPN2	5771	broad.mit.edu	37	18	12817367	12817367	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:12817366_12817366TA>T	uc002krp.3	-	6	690	c.496_splice	c.e6-1	p.S166_splice	PTPN2_uc002krn.3_Splice_Site_p.S189_splice|PTPN2_uc002krl.3_Splice_Site_p.S166_splice|PTPN2_uc002krm.3_Splice_Site_p.S166_splice	NM_002828	NP_002819	P17706	PTN2_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA.	166	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				TTCACCACTCTAAAAAGTGAA	0.308												
PTOV1	53635	broad.mit.edu	37	19	50363527	50363527	+	Splice_Site	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:50363526_50363526TG>T	uc002pqf.1	+	12	1410	c.1240_splice	c.e12-1	p.M414_splice	PTOV1_uc002pqb.4_Splice_Site_p.G358_splice|PTOV1_uc002pqa.3_Splice_Site|PTOV1_uc002pqd.3_Splice_Site|PTOV1_uc002pqe.2_Splice_Site	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.	414	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCGCCGTAGATGGGGGGGTAG	0.657												
UBR4	23352	broad.mit.edu	37	1	19505634	19505635	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:19505634_19505635delAG	uc001bbi.2	-	18	2268_2269	c.2264_2265delCT	c.(2263-2265)TCTfs	p.S755fs	UBR4_uc001bbm.1_5'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	755					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTGAAAGCACAGAGAGGCTTTG	0.510												
PUM1	9698	broad.mit.edu	37	1	31439015	31439020	+	In_Frame_Del	DEL	GCTGGG	GCTGGG	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:31439015_31439020delGCTGGG	uc001bsi.1	-	13	2008_2013	c.1895_1900delCCCAGC	c.(1894-1902)CCCCAGCAG>CAG	p.PQ632del	PUM1_uc001bsf.1_In_Frame_Del_p.PQ298del|PUM1_uc001bsg.1_In_Frame_Del_p.PQ445del|PUM1_uc001bsh.1_In_Frame_Del_p.PQ632del|PUM1_uc001bsj.1_In_Frame_Del_p.PQ606del|PUM1_uc010oga.1_In_Frame_Del_p.PQ488del|PUM1_uc001bsk.1_In_Frame_Del_p.PQ668del|PUM1_uc010ogb.1_In_Frame_Del_p.PQ573del	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	632_633					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTgggctgctgctggggctggggctg	0.447												
INSRR	3645	broad.mit.edu	37	1	156821914	156821914	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:156821914delC	uc010pht.1	-	3	961	c.707delG	c.(706-708)GGCfs	p.G236fs	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Frame_Shift_Del_p.G236fs	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	236					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGCTGCAGCCCCCCAGGCA	0.657												
ATP2B4	493	broad.mit.edu	37	1	203667346	203667346	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:203667346delC	uc001gzw.2	+	3	1139	c.255delC	c.(253-255)ATCfs	p.I85fs	ATP2B4_uc001gzv.2_Frame_Shift_Del_p.I85fs|ATP2B4_uc009xaq.2_Frame_Shift_Del_p.I85fs	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	85	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACAACGTGATCCCCCCCAAAA	0.483												
KISS1	3814	broad.mit.edu	37	1	204159760	204159761	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:204159760_204159761insG	uc001har.2	-	3	422_423	c.268_269insC	c.(268-270)CACfs	p.H90fs		NM_002256	NP_002247	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	90					cytoskeleton organization	extracellular region	protein binding			ovary(1)	1	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		CTGGCGGCTGTGGGGGGCGGAC	0.723												
RASSF5	83593	broad.mit.edu	37	1	206757987	206757987	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:206757987delT	uc001hed.2	+	4	1016	c.959delT	c.(958-960)CTTfs	p.L320fs	RASSF5_uc001hec.1_Frame_Shift_Del_p.L320fs|RASSF5_uc001hee.2_Frame_Shift_Del_p.L320fs|RASSF5_uc001hef.2_Frame_Shift_Del_p.L167fs|RASSF5_uc001heg.1_Frame_Shift_Del_p.L93fs	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family 5	320	Ras-associating.				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			ovary(1)	1	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AAGTTTGCACTTTTTAAGCGG	0.522												
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	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												
FBXO18	84893	broad.mit.edu	37	10	5966439	5966439	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:5966439delA	uc001iis.2	+	17	2659	c.2564delA	c.(2563-2565)GAAfs	p.E855fs	FBXO18_uc001iir.2_Frame_Shift_Del_p.E781fs|FBXO18_uc009xig.2_Frame_Shift_Del_p.E781fs|FBXO18_uc001iit.2_Frame_Shift_Del_p.E906fs	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	855					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						CAAAGGATAGAAAAATGCCAT	0.443												
JMJD1C	221037	broad.mit.edu	37	10	64966903	64966903	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:64966903delT	uc001jmn.2	-	10	4826	c.4526delA	c.(4525-4527)AATfs	p.N1509fs	JMJD1C_uc001jml.2_Frame_Shift_Del_p.N1290fs|JMJD1C_uc001jmm.2_Frame_Shift_Del_p.N1221fs|JMJD1C_uc010qiq.1_Frame_Shift_Del_p.N1327fs|JMJD1C_uc009xpi.2_Frame_Shift_Del_p.N1327fs|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Frame_Shift_Del_p.N546fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1509					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAGTGTCTGATTTTTTATAGC	0.398												
KIAA1598	57698	broad.mit.edu	37	10	118687324	118687324	+	Frame_Shift_Del	DEL	G	G	-	rs139468743		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:118687324delG	uc009xyw.2	-	11	1589	c.1091delC	c.(1090-1092)CCTfs	p.P364fs	KIAA1598_uc001lcz.3_Frame_Shift_Del_p.P364fs|KIAA1598_uc010qso.1_Frame_Shift_Del_p.P304fs|KIAA1598_uc010qsp.1_Frame_Shift_Del_p.P364fs|KIAA1598_uc010qsq.1_Frame_Shift_Del_p.P304fs|KIAA1598_uc001lcy.3_Frame_Shift_Del_p.P334fs	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	364	Pro-rich.				axon guidance	axon					0				all cancers(201;0.00494)		Gggaggtggagggggaagtgg	0.333												
ZNF408	79797	broad.mit.edu	37	11	46726476	46726477	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:46726476_46726477insC	uc001nde.1	+	5	1456_1457	c.1226_1227insC	c.(1225-1227)TTCfs	p.F409fs	ZNF408_uc010rgw.1_Frame_Shift_Ins_p.F401fs	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	409	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						GTGCGGCCCTTCCCCTGTCCAC	0.589												
MADD	8567	broad.mit.edu	37	11	47312236	47312236	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:47312236delG	uc001ner.1	+	20	3421	c.3230delG	c.(3229-3231)CGGfs	p.R1077fs	MADD_uc001neq.2_Frame_Shift_Del_p.R1057fs|MADD_uc001nev.1_Frame_Shift_Del_p.R1014fs|MADD_uc001nes.1_Frame_Shift_Del_p.R1034fs|MADD_uc001net.1_Frame_Shift_Del_p.R1077fs|MADD_uc009yln.1_Frame_Shift_Del_p.R1014fs|MADD_uc001neu.1_Frame_Shift_Del_p.R1014fs|MADD_uc001nex.2_Frame_Shift_Del_p.R1077fs|MADD_uc001nez.2_Frame_Shift_Del_p.R1014fs|MADD_uc001new.2_Frame_Shift_Del_p.R1057fs|MADD_uc009ylo.2_5'UTR	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1077					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		CTAGCTGGGCGGGGGGACCCA	0.532												
TNKS1BP1	85456	broad.mit.edu	37	11	57070273	57070273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:57070273delG	uc001njr.2	-	6	4655	c.4343delC	c.(4342-4344)CCAfs	p.P1448fs	TNKS1BP1_uc001njp.2_Frame_Shift_Del_p.P20fs|TNKS1BP1_uc001njq.2_Frame_Shift_Del_p.P20fs|TNKS1BP1_uc001njs.2_Frame_Shift_Del_p.P1448fs	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1448	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				GCCGGAGGGTGGGGGGCGGGC	0.682												
CTNND1	1500	broad.mit.edu	37	11	57569589	57569589	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:57569589delA	uc001nmc.3	+	7	1912	c.1341delA	c.(1339-1341)ATAfs	p.I447fs	CTNND1_uc001nlh.1_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlu.3_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlt.3_Frame_Shift_Del_p.I346fs|CTNND1_uc001nls.3_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlw.3_Frame_Shift_Del_p.I346fs|CTNND1_uc001nmf.3_Frame_Shift_Del_p.I447fs|CTNND1_uc001nmd.3_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlk.3_Frame_Shift_Del_p.I393fs|CTNND1_uc001nme.3_Frame_Shift_Del_p.I447fs|CTNND1_uc001nll.3_Frame_Shift_Del_p.I393fs|CTNND1_uc001nmg.3_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlj.3_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlr.3_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlp.3_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlx.3_Frame_Shift_Del_p.I124fs|CTNND1_uc001nlz.3_Frame_Shift_Del_p.I124fs|CTNND1_uc009ymn.2_Frame_Shift_Del_p.I124fs|CTNND1_uc001nlm.3_Frame_Shift_Del_p.I447fs|CTNND1_uc001nly.3_Frame_Shift_Del_p.I124fs|CTNND1_uc001nmb.3_Frame_Shift_Del_p.I124fs|CTNND1_uc001nma.3_Frame_Shift_Del_p.I124fs|CTNND1_uc001nmi.3_Frame_Shift_Del_p.I346fs|CTNND1_uc001nmh.3_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlq.3_Frame_Shift_Del_p.I346fs|CTNND1_uc001nln.3_Frame_Shift_Del_p.I447fs|CTNND1_uc001nli.3_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlo.3_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlv.3_Frame_Shift_Del_p.I346fs	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	447	ARM 3.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				AGATTGCCATAAAAAACTGTG	0.463												
PPP2R5B	5526	broad.mit.edu	37	11	64693222	64693222	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:64693222delC	uc001oby.2	+	2	601	c.16delC	c.(16-18)CCCfs	p.P6fs	PPP2R5B_uc001obz.2_Frame_Shift_Del_p.P6fs	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	6					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						GACGAAGCTGCCCCCTGCAAG	0.687												
SYVN1	84447	broad.mit.edu	37	11	64897506	64897508	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:64897506_64897508delGGA	uc001odb.2	-	13	1468_1470	c.1374_1376delTCC	c.(1372-1377)CCTCCC>CCC	p.458_459PP>P	SYVN1_uc001odc.2_In_Frame_Del_p.457_458PP>P|SYVN1_uc009yqc.2_In_Frame_Del_p.406_407PP>P	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	synoviolin 1 isoform b	458_459	Pro-rich.|Cytoplasmic (Potential).				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(1)	1						ACCCATCCAGGGAGGAGGGAAGG	0.645												
EFEMP2	30008	broad.mit.edu	37	11	65637334	65637336	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:65637334_65637336delAGG	uc001ofy.3	-	7	913_915	c.719_721delCCT	c.(718-723)TCCTGC>TGC	p.S240del	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_In_Frame_Del_p.S240del	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	240	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		TCACCACTGCAGGAGAAGCCATC	0.611												
CTSC	1075	broad.mit.edu	37	11	88068108	88068108	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:88068108delA	uc001pck.3	-	2	416	c.315delT	c.(313-315)TTTfs	p.F105fs	CTSC_uc001pcl.3_5'UTR|CTSC_uc001pcm.3_Frame_Shift_Del_p.F105fs|CTSC_uc001pcn.3_Frame_Shift_Del_p.F105fs	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	105					immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACTAACCTTAAAAAAGGCAA	0.338												
OR10G8	219869	broad.mit.edu	37	11	123900397	123900397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:123900397delC	uc001pzp.1	+	1	68	c.68delC	c.(67-69)GCCfs	p.A23fs		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCGCTGGACGCCCCCCTCTTT	0.592												
KCNA6	3742	broad.mit.edu	37	12	4919441	4919441	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:4919441delC	uc001qng.2	+	1	1100	c.234delC	c.(232-234)GACfs	p.D78fs		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	78						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						GCTTCTTCGACCCCCTGAGGA	0.632										HNSCC(72;0.22)		
ABCC9	10060	broad.mit.edu	37	12	22068696	22068696	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:22068696delT	uc001rfi.1	-	5	742	c.722delA	c.(721-723)AAGfs	p.K241fs	ABCC9_uc001rfh.2_Frame_Shift_Del_p.K241fs|ABCC9_uc001rfj.1_Frame_Shift_Del_p.K241fs	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	241	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATCAATAGGCTTTTTGTGAGC	0.373												
MLL2	8085	broad.mit.edu	37	12	49433773	49433773	+	Frame_Shift_Del	DEL	G	G	-	rs35050033		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:49433773delG	uc001rta.3	-	31	7780	c.7780delC	c.(7780-7782)CTGfs	p.L2594fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2594	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTGGGCCCCAGGGGGCTGCCC	0.647			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
FGF9	2254	broad.mit.edu	37	13	22275330	22275330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:22275330delA	uc001uog.2	+	3	1220	c.383delA	c.(382-384)GAAfs	p.E128fs		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	128					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		TTTTTACAGGAAAAACTAACC	0.219												
EXOSC8	11340	broad.mit.edu	37	13	37581201	37581201	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:37581201delA	uc001uwa.2	+	8	745	c.480delA	c.(478-480)TTAfs	p.L160fs	EXOSC8_uc001uvz.2_RNA|EXOSC8_uc001uwb.2_Frame_Shift_Del_p.L160fs|EXOSC8_uc001uwc.2_RNA	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	exosome component 8	160					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			pancreas(1)	1		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		TAGCGGCTTTAAAAAATGGTA	0.378												
FREM2	341640	broad.mit.edu	37	13	39266588	39266589	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:39266588_39266589insC	uc001uwv.2	+	1	5416_5417	c.5107_5108insC	c.(5107-5109)GCCfs	p.A1703fs		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1703	Extracellular (Potential).|CSPG 12.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CGTGACAGAGGCCCCTCAACAT	0.431												
NALCN	259232	broad.mit.edu	37	13	101735497	101735497	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:101735497delA	uc001vox.1	-	32	3825	c.3636delT	c.(3634-3636)TTTfs	p.F1212fs		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1212	Helical; Name=S1 of repeat IV; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGTCCTCTTAAAAAATGGAT	0.418												
NALCN	259232	broad.mit.edu	37	13	101997731	101997732	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:101997731_101997732insGT	uc001vox.1	-	7	873_874	c.684_685insAC	c.(682-687)CACTGCfs	p.H228fs	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Frame_Shift_Ins_p.H228fs|NALCN_uc001vpa.2_Frame_Shift_Ins_p.H228fs	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	228_229	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTGGTGAGCAGTGTGTGTCTG	0.431												
C14orf93	60686	broad.mit.edu	37	14	23468135	23468135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:23468135delG	uc001wib.1	-	2	408	c.98delC	c.(97-99)ACAfs	p.T33fs	C14orf93_uc001wic.1_Intron|C14orf93_uc001wid.1_Frame_Shift_Del_p.T33fs|C14orf93_uc001wig.2_Frame_Shift_Del_p.T33fs|C14orf93_uc001wih.2_Frame_Shift_Del_p.T33fs|C14orf93_uc001wie.2_Frame_Shift_Del_p.T33fs|C14orf93_uc001wia.3_Frame_Shift_Del_p.T33fs|C14orf93_uc001wif.2_Intron	NM_021944	NP_068763	Q9H972	CN093_HUMAN	hypothetical protein LOC60686 precursor	33						extracellular region				ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CTGGGAGCCTGTGTTGCCTCC	0.582												
STRN3	29966	broad.mit.edu	37	14	31398422	31398423	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:31398422_31398423insC	uc001wqu.2	-	8	1299_1300	c.1083_1084insG	c.(1081-1086)GGGAAGfs	p.G361fs	STRN3_uc001wqv.2_Intron|STRN3_uc010tpj.1_Intron	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	nuclear autoantigen isoform 1	361_362					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACCCCTTTCTTCCCCTTTCGTT	0.366												
C14orf106	55320	broad.mit.edu	37	14	45700418	45700418	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:45700418delT	uc001wwf.2	-	8	1979	c.1520delA	c.(1519-1521)AATfs	p.N507fs	C14orf106_uc010anh.2_RNA	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	507					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						TCGTGCATCATTTTTCATTGA	0.358												
SOS2	6655	broad.mit.edu	37	14	50606709	50606709	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:50606709delT	uc001wxs.3	-	17	2834	c.2736delA	c.(2734-2736)AAAfs	p.K912fs	SOS2_uc010tql.1_Frame_Shift_Del_p.K879fs|SOS2_uc010tqm.1_RNA	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	912	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)					TTACTAGGTATTTTTTAAAGT	0.259												
BTBD7	55727	broad.mit.edu	37	14	93709220	93709221	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:93709220_93709221insT	uc001ybo.2	-	11	3123_3124	c.2797_2798insA	c.(2797-2799)ACAfs	p.T933fs	BTBD7_uc010aur.2_Frame_Shift_Ins_p.T458fs|BTBD7_uc010two.1_Frame_Shift_Ins_p.T753fs|BTBD7_uc001ybp.2_Frame_Shift_Ins_p.T582fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	933										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TCTGGTGTCTGTTTTTTGCTCT	0.485												
TUBGCP4	27229	broad.mit.edu	37	15	43672327	43672327	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:43672327delG	uc001zro.2	+	6	727	c.487delG	c.(487-489)GGGfs	p.G163fs	TUBGCP4_uc001zrn.2_Frame_Shift_Del_p.G163fs|TUBGCP4_uc010bdh.2_RNA	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	163					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			ovary(3)	3		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ACACAGCTGTGGGGGGTTGCC	0.453												
CSNK2A2	1459	broad.mit.edu	37	16	58202515	58202515	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:58202515delT	uc002enc.2	-	6	654	c.512delA	c.(511-513)AAGfs	p.K171fs		NM_001896	NP_001887	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	171	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						TAATGGTACCTTTTTCTGTTG	0.463												
RLTPR	146206	broad.mit.edu	37	16	67682131	67682131	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:67682131delC	uc002etn.2	+	14	1368	c.1248delC	c.(1246-1248)CTCfs	p.L416fs	RLTPR_uc010cel.1_Frame_Shift_Del_p.L416fs|RLTPR_uc010vjr.1_Intron	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	416	LRR 7.									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)		CCAACAGCCTCCCCCCGCAGC	0.701												
EFNB3	1949	broad.mit.edu	37	17	7612568	7612568	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:7612568delG	uc002gis.2	+	5	1094	c.697delG	c.(697-699)GGGfs	p.G233fs		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	ephrin-B3 precursor	233	Helical; (Potential).				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			ovary(1)	1		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGGGGCAGCAGGGGGGCTGGC	0.716												
CCDC144B	284047	broad.mit.edu	37	17	18483747	18483747	+	RNA	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:18483747delT	uc002gua.3	-	12		c.2679delA								Homo sapiens cDNA FLJ36492 fis, clone THYMU2018455.											ovary(1)|skin(1)	2						AGTTTTATAATTTTTTGAAGG	0.313												
IGF2BP1	10642	broad.mit.edu	37	17	47126785	47126785	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:47126785delG	uc002iom.2	+	15	2047	c.1713delG	c.(1711-1713)CAGfs	p.Q571fs	IGF2BP1_uc010dbj.2_Frame_Shift_Del_p.Q432fs	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	571					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						AGAGTAACCAGGCCCAGGCAC	0.592												
HEXDC	284004	broad.mit.edu	37	17	80400208	80400208	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:80400208delC	uc002kew.2	+	12	1460	c.1409delC	c.(1408-1410)GCCfs	p.A470fs	HEXDC_uc002kev.3_Frame_Shift_Del_p.P500fs|HEXDC_uc010diq.2_Frame_Shift_Del_p.C472fs|HEXDC_uc010wvm.1_RNA			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	470					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAGGTGTCTGCCCCCCCGCTG	0.687												
KIAA1632	57724	broad.mit.edu	37	18	43534484	43534484	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:43534484delA	uc002lbm.2	-	2	984	c.884delT	c.(883-885)TTGfs	p.L295fs	KIAA1632_uc002lbo.1_Frame_Shift_Del_p.L295fs	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	295					autophagy						0						TGAGTAGTTCAAAAGCAACTC	0.433												
KRI1	65095	broad.mit.edu	37	19	10675651	10675653	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:10675651_10675653delCTT	uc002moy.1	-	3	253_255	c.244_246delAAG	c.(244-246)AAGdel	p.K82del	KRI1_uc002mox.1_In_Frame_Del_p.K78del	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	82										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGCGGGGGTCCTTCTTCTTCAAC	0.448											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CARM1	10498	broad.mit.edu	37	19	11015633	11015634	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:11015633_11015634insTG	uc002mpz.2	+	2	353_354	c.227_228insTG	c.(226-228)GATfs	p.D76fs	CARM1_uc010dxn.2_RNA	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	coactivator-associated arginine	76					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding				0						GTAGATGAAGATGTGTGTGTCT	0.589												
SYDE1	85360	broad.mit.edu	37	19	15222547	15222547	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:15222547delC	uc002nah.1	+	6	1553	c.1522delC	c.(1522-1524)CCCfs	p.P508fs	SYDE1_uc002nai.1_Frame_Shift_Del_p.P441fs|SYDE1_uc002naj.1_Frame_Shift_Del_p.P165fs	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1	508	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|pancreas(1)	2						AAACAGAGTTCCCCCCACCAC	0.617												
WIZ	58525	broad.mit.edu	37	19	15535043	15535043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:15535043delG	uc002nbc.2	-	7	2721	c.2698delC	c.(2698-2700)CAGfs	p.Q900fs	WIZ_uc002nba.3_Frame_Shift_Del_p.Q767fs|WIZ_uc002nbb.3_Frame_Shift_Del_p.Q726fs	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1583						nucleus	zinc ion binding				0						AGTGATGTCTGGGGGGGCCGG	0.647												
GTPBP3	84705	broad.mit.edu	37	19	17448849	17448849	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:17448849delC	uc010eas.2	+	2	151	c.86delC	c.(85-87)GCCfs	p.A29fs	GTPBP3_uc010xpo.1_Frame_Shift_Del_p.A51fs|GTPBP3_uc010eaq.1_RNA|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Frame_Shift_Del_p.A29fs|GTPBP3_uc002ngg.3_Frame_Shift_Del_p.A29fs|GTPBP3_uc002ngi.3_5'UTR	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	29					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1						GGCGCACCAGCCCCCGGCTCC	0.711												
PPP1R14A	94274	broad.mit.edu	37	19	38746893	38746893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:38746893delC	uc002ohq.2	-	1	280	c.87delG	c.(85-87)GGGfs	p.G29fs	PPP1R14A_uc010efv.2_Frame_Shift_Del_p.G29fs	NM_033256	NP_150281	Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	29					regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity				0	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCTTCTGCAGCCCCCCGGGAC	0.726												
CIC	23152	broad.mit.edu	37	19	42796883	42796883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:42796883delC	uc002otf.1	+	14	3381	c.3341delC	c.(3340-3342)GCCfs	p.A1114fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1114	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCATCCCAGGCCCCCCCAAGC	0.682			T	DUX4	soft tissue sarcoma							
PTOV1	53635	broad.mit.edu	37	19	50360301	50360303	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:50360301_50360303delAAG	uc002pqf.1	+	6	798_800	c.628_630delAAG	c.(628-630)AAGdel	p.K212del	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_In_Frame_Del_p.K180del|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	212	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GTACTCGTCCAAGAAGAAGATCT	0.640												
MAL	4118	broad.mit.edu	37	2	95691557	95691558	+	Frame_Shift_Ins	INS	-	-	G	rs138435313		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:95691557_95691558insG	uc002stx.1	+	1	79_80	c.20_21insG	c.(19-21)ACGfs	p.T7fs	MAL_uc002sty.1_Frame_Shift_Ins_p.T7fs|MAL_uc002stz.1_Frame_Shift_Ins_p.T7fs|MAL_uc002sua.1_Frame_Shift_Ins_p.T7fs	NM_002371	NP_002362	P21145	MAL_HUMAN	T-lymphocyte maturation-associated protein	7	Cytoplasmic (Potential).				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath				0				STAD - Stomach adenocarcinoma(1183;0.18)		GCAGCGGCGACGGGGGGCAGCA	0.693												
ZAP70	7535	broad.mit.edu	37	2	98340769	98340769	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:98340769delC	uc002syd.1	+	3	477	c.270delC	c.(268-270)GACfs	p.D90fs	ZAP70_uc010yvf.1_Frame_Shift_Del_p.D90fs|ZAP70_uc002sye.1_5'Flank	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	90	SH2 1.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						ACTCGCGCGACCCCGACGGGC	0.692												
SCN9A	6335	broad.mit.edu	37	2	167144965	167144965	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:167144965delT	uc010fpl.2	-	10	1637	c.1296delA	c.(1294-1296)AAAfs	p.K432fs	uc002udp.2_Intron|SCN9A_uc002udr.1_Frame_Shift_Del_p.K303fs|SCN9A_uc002uds.1_Frame_Shift_Del_p.K303fs|SCN9A_uc002udt.1_Frame_Shift_Del_p.K303fs	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	432						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTTCTTGCTCTTTTTTAAGAC	0.393												
CHRNA1	1134	broad.mit.edu	37	2	175622346	175622346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:175622346delT	uc002ujd.2	-	5	445	c.367delA	c.(367-369)ATTfs	p.I123fs	uc002uiw.2_Intron|CHRNA1_uc002uje.2_Frame_Shift_Del_p.I98fs|CHRNA1_uc002ujf.3_Frame_Shift_Del_p.I98fs	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	123	Extracellular.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GGAATGTGAATTTTTTTCACA	0.443												
HOXD10	3236	broad.mit.edu	37	2	176981596	176981597	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:176981596_176981597insT	uc002ukj.2	+	1	105_106	c.35_36insT	c.(34-36)ACTfs	p.T12fs		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	12						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCTGCTAATACTTTTTTAGTAG	0.460												
SSFA2	6744	broad.mit.edu	37	2	182786778	182786778	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:182786778delT	uc002uoi.2	+	16	3636	c.3314delT	c.(3313-3315)GTTfs	p.V1105fs	SSFA2_uc002uoh.2_Frame_Shift_Del_p.V1105fs|SSFA2_uc002uoj.2_Frame_Shift_Del_p.V1083fs|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Frame_Shift_Del_p.V930fs|SSFA2_uc002uol.2_Frame_Shift_Del_p.V952fs|SSFA2_uc002uom.2_Frame_Shift_Del_p.V569fs	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	1105						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCAGAATCTGTTTTTTCCCAA	0.458												
DEFB128	245939	broad.mit.edu	37	20	168739	168740	+	Frame_Shift_Ins	INS	-	-	T	rs116794501	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:168739_168740insT	uc002wcz.1	-	2	69_70	c.69_70insA	c.(67-72)AAATGCfs	p.K23fs		NM_001037732	NP_001032821	Q7Z7B8	DB128_HUMAN	beta-defensin 128 precursor	23_24					defense response to bacterium	extracellular region		p.R20fs*4(1)		breast(1)	1		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TTATTGAAGCATTTTTTGAGTC	0.411												
HIC2	23119	broad.mit.edu	37	22	21800189	21800191	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:21800189_21800191delGAA	uc002zur.3	+	3	1235_1237	c.1005_1007delGAA	c.(1003-1008)CGGAAG>CGG	p.K337del	HIC2_uc002zus.3_In_Frame_Del_p.K337del	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	337					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACTCCACTCGGAAGAAGGAGTGG	0.675												
TRNT1	51095	broad.mit.edu	37	3	3188232	3188232	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:3188232delA	uc003bpp.3	+	6	829	c.727delA	c.(727-729)AAAfs	p.K243fs	TRNT1_uc010hbv.2_Frame_Shift_Del_p.K243fs|TRNT1_uc003bpm.2_RNA	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	243					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding				0				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		GGTGGAACTGAAAAAAATTCT	0.383												
PTPN23	25930	broad.mit.edu	37	3	47454481	47454482	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:47454481_47454482insT	uc003crf.1	+	25	4813_4814	c.4717_4718insT	c.(4717-4719)CCCfs	p.P1573fs	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Frame_Shift_Ins_p.P1443fs|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1573	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCGGGGCCCCCCTCCTCCTCC	0.649												
ERC2	26059	broad.mit.edu	37	3	55768913	55768913	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:55768913delT	uc003dhr.1	-	15	2854	c.2598delA	c.(2596-2598)AAAfs	p.K866fs	ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Frame_Shift_Del_p.K345fs	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	866	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)		TGTTTGCATCTTTTTCACTGA	0.373												
DZIP1L	199221	broad.mit.edu	37	3	137787004	137787004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:137787004delC	uc003erq.2	-	13	2184	c.1821delG	c.(1819-1821)GGGfs	p.G607fs		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	607						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						TCATCCCGGGCCCCGAGGAAG	0.682												
IGSF10	285313	broad.mit.edu	37	3	151166172	151166172	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:151166172delT	uc011bod.1	-	4	1597	c.1597delA	c.(1597-1599)AGTfs	p.S533fs		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	533	Ig-like C2-type 1.				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)			AATTTTCCACTTTTGTCTATT	0.448												
EVC	2121	broad.mit.edu	37	4	5746947	5746947	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:5746947delA	uc003gil.1	+	7	1002	c.818delA	c.(817-819)GAAfs	p.E273fs	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	273					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GAGGAACTAGAAAAGGGACTT	0.378												
TET2	54790	broad.mit.edu	37	4	106157730	106157732	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:106157730_106157732delTCT	uc003hxk.2	+	3	3017_3019	c.2631_2633delTCT	c.(2629-2634)GATCTT>GAT	p.L879del	TET2_uc011cez.1_In_Frame_Del_p.L900del|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_In_Frame_Del_p.L879del|TET2_uc003hxi.1_In_Frame_Del_p.L879del	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	879	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAAAGCAAGATCTTCTTCACAGG	0.379			Mis N|F		MDS							
PCDH18	54510	broad.mit.edu	37	4	138452697	138452697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:138452697delA	uc003ihe.3	-	1	933	c.546delT	c.(544-546)TTTfs	p.F182fs	PCDH18_uc003ihf.3_Frame_Shift_Del_p.F175fs|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_5'UTR|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	182	Extracellular (Potential).|Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					CCTCGATATTAAAAAAATCAT	0.493												
SORBS2	8470	broad.mit.edu	37	4	186545480	186545480	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:186545480delT	uc003iyl.2	-	13	1949	c.1091delA	c.(1090-1092)AACfs	p.N364fs	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Frame_Shift_Del_p.N464fs|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Frame_Shift_Del_p.N268fs|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Frame_Shift_Del_p.N478fs|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	364						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GATTTCTGCGTTTTGCCGGGC	0.517												
C9	735	broad.mit.edu	37	5	39289038	39289039	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:39289038_39289039delTA	uc003jlv.3	-	10	1520_1521	c.1431_1432delTA	c.(1429-1434)TATAATfs	p.Y477fs		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	477_478	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)			GGAACCAGATTATATATAGGAG	0.312												
PCDHB5	26167	broad.mit.edu	37	5	140515740	140515740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:140515740delT	uc003liq.2	+	1	941	c.724delT	c.(724-726)TTTfs	p.F242fs		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	242	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)			CGCCCCCGAATTTTTACAATC	0.517												
FOXI1	2299	broad.mit.edu	37	5	169533111	169533111	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:169533111delG	uc003mai.3	+	1	195	c.150delG	c.(148-150)GAGfs	p.E50fs	FOXI1_uc003maj.3_Frame_Shift_Del_p.E50fs	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	50	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTCCTTCGAGGGGGGCGGCG	0.682									Pendred_syndrome			
CDHR2	54825	broad.mit.edu	37	5	176004429	176004429	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:176004429delG	uc003mem.1	+	13	1290	c.1224delG	c.(1222-1224)CTGfs	p.L408fs	CDHR2_uc003men.1_Frame_Shift_Del_p.L408fs	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	408	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TGTTGTCGCTGGGGGGCCCCG	0.652												
KIF13A	63971	broad.mit.edu	37	6	17837127	17837128	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:17837127_17837128delCT	uc003ncg.3	-	11	1241_1242	c.1136_1137delAG	c.(1135-1137)GAGfs	p.E379fs	KIF13A_uc003ncf.2_Frame_Shift_Del_p.E379fs|KIF13A_uc003nch.3_Frame_Shift_Del_p.E379fs|KIF13A_uc003nci.3_Frame_Shift_Del_p.E379fs|KIF13A_uc003ncj.2_Frame_Shift_Del_p.E55fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	379	Potential.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GAGAGAGCTGCTCTCTCAGTTT	0.525												
PGBD1	84547	broad.mit.edu	37	6	28254890	28254890	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:28254890delA	uc003nky.2	+	4	957	c.587delA	c.(586-588)GAAfs	p.E196fs	PGBD1_uc003nkz.2_Frame_Shift_Del_p.E196fs	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	196					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						CATCTCCAGGAAAAAAACCCC	0.502												
OR11A1	26531	broad.mit.edu	37	6	29394884	29394884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:29394884delA	uc003nmg.2	-	1	626	c.535delT	c.(535-537)TACfs	p.Y179fs		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AAGTCACAGTAAAACTGGTCA	0.532												
HLA-C	3107	broad.mit.edu	37	6	31238246	31238247	+	Frame_Shift_Del	DEL	GT	GT	-	rs1131292		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:31238246_31238247delGT	uc003nsy.2	-	4	642_643	c.635_636delAC	c.(634-636)CACfs	p.H212fs	HLA-C_uc011dnj.1_Frame_Shift_Del_p.H184fs|HLA-C_uc003nsx.2_Frame_Shift_Del_p.H91fs|HLA-C_uc003nsz.2_Frame_Shift_Del_p.H212fs|HLA-C_uc010jsl.2_Frame_Shift_Del_p.H212fs|HLA-C_uc003nta.2_Frame_Shift_Del_p.H212fs|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Frame_Shift_Del_p.H91fs	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	212	Extracellular (Potential).|Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0						GGTGGGTCACGTGTGTCTTTGG	0.594												
HLA-DQA2	3118	broad.mit.edu	37	6	32709238	32709239	+	In_Frame_Ins	INS	-	-	CTG			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:32709238_32709239insCTG	uc003obx.2	+	1	76_77	c.18_19insCTG	c.(16-21)insCTG	p.9_10insL		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	9_10					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAAACAAAGCTCTGCTGCTGGG	0.535												
PTCRA	171558	broad.mit.edu	37	6	42890866	42890866	+	Frame_Shift_Del	DEL	C	C	-	rs146960695		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:42890866delC	uc003osx.2	+	2	241	c.160delC	c.(160-162)CCCfs	p.P54fs	PTCRA_uc011duz.1_Frame_Shift_Del_p.H64fs|PTCRA_uc010jxx.1_Intron|PTCRA_uc010jxy.2_Intron|PTCRA_uc010jxz.2_Intron	NM_138296	NP_612153	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha precursor	54	Extracellular (Potential).					integral to membrane	receptor activity	p.P54T(1)		ovary(2)	2	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGATGTTGCACCCCCTGGCCT	0.607												
RHAG	6005	broad.mit.edu	37	6	49586892	49586892	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:49586892delT	uc003ozk.3	-	2	403	c.341delA	c.(340-342)AACfs	p.N114fs	RHAG_uc010jzl.2_Frame_Shift_Del_p.N114fs|RHAG_uc010jzm.2_Frame_Shift_Del_p.N114fs	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	114	Helical; (Potential).				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|skin(1)	2	Lung NSC(77;0.0255)					GGATGCTCACTTTTTGATTCC	0.264												
DEFB113	245927	broad.mit.edu	37	6	49936565	49936566	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:49936565_49936566insT	uc011dwq.1	-	2	73_74	c.73_74insA	c.(73-75)ACAfs	p.T25fs		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	beta-defensin 113 precursor	25					defense response to bacterium	extracellular region					0	Lung NSC(77;0.042)					AACTTCTCTTGTTTTTTTCTGT	0.351												
SFRS18	25957	broad.mit.edu	37	6	99848834	99848834	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:99848834delT	uc003ppo.3	-	12	2228	c.2000delA	c.(1999-2001)AAGfs	p.K667fs	SFRS18_uc003ppl.2_Frame_Shift_Del_p.K213fs|SFRS18_uc003ppp.3_Frame_Shift_Del_p.K667fs|SFRS18_uc011eag.1_Frame_Shift_Del_p.K667fs	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	667						nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		actcctctcctttttcctctc	0.169												
GPR141	353345	broad.mit.edu	37	7	37780555	37780555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:37780555delT	uc003tfm.1	+	1	560	c.560delT	c.(559-561)ATTfs	p.I187fs	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	187	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						ATGATAGTCATTTTTGTCATA	0.403												
SLC26A5	375611	broad.mit.edu	37	7	103061308	103061308	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:103061308delT	uc003vbz.2	-	4	405	c.169delA	c.(169-171)ATAfs	p.I57fs	SLC26A5_uc003vbt.1_Frame_Shift_Del_p.I57fs|SLC26A5_uc003vbu.1_Frame_Shift_Del_p.I57fs|SLC26A5_uc003vbv.1_Frame_Shift_Del_p.I57fs|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Frame_Shift_Del_p.I57fs|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	57	Cytoplasmic (Potential).				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						ATATTTCTTATTTTTTTAGGA	0.353												
LAMB4	22798	broad.mit.edu	37	7	107664504	107664505	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:107664504_107664505insT	uc010ljo.1	-	34	5349_5350	c.5265_5266insA	c.(5263-5268)AAATATfs	p.K1755fs	LAMB4_uc003vey.2_Frame_Shift_Ins_p.K1755fs	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1755_1756	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						CACCTAGCATATTTTTTTTCTT	0.376												
GPR37	2861	broad.mit.edu	37	7	124404490	124404490	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:124404490delA	uc003vli.2	-	1	1192	c.541delT	c.(541-543)TACfs	p.Y181fs		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	181	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						CTTGGCCAGTAAAAAAGATCG	0.602												
KIAA1549	57670	broad.mit.edu	37	7	138603524	138603524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:138603524delA	uc011kql.1	-	2	897	c.848delT	c.(847-849)TTAfs	p.L283fs	KIAA1549_uc003vuk.3_Frame_Shift_Del_p.L233fs|KIAA1549_uc011kqj.1_Frame_Shift_Del_p.L283fs	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	283						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						CCGGGAGCTTAAAAAAAGGGT	0.517			O	BRAF	pilocytic astrocytoma							
MLL3	58508	broad.mit.edu	37	7	152012386	152012386	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:152012386delT	uc003wla.2	-	4	646	c.427delA	c.(427-429)AGTfs	p.S143fs		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	143					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)		CCTAAGGAACTTTTTTCCCCA	0.378			N		medulloblastoma							
CNTLN	54875	broad.mit.edu	37	9	17502598	17502598	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:17502598delA	uc003zmy.2	+	26	4195	c.4169delA	c.(4168-4170)GAAfs	p.E1390fs	CNTLN_uc010mio.2_3'UTR	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	Error:Variant_position_missing_in_Q9NXG0_after_alignment						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		AAAATAAATGAAAAAAAGAAA	0.259												
PCSK5	5125	broad.mit.edu	37	9	78506105	78506105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:78506105delG	uc004ajz.2	+	1	546	c.8delG	c.(7-9)TGGfs	p.W3fs	PCSK5_uc004ajy.2_Frame_Shift_Del_p.W3fs|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	3					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						ACCATGGGCTGGGGGAGCCGC	0.726												
ASPN	54829	broad.mit.edu	37	9	95236979	95236979	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:95236979delA	uc004ase.1	-	2	445	c.201delT	c.(199-201)TTTfs	p.F67fs	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_Frame_Shift_Del_p.F67fs	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	asporin precursor	67	LRRNT.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding				0						GATCAAATGGAAAAAAATGGC	0.294												
NAIF1	203245	broad.mit.edu	37	9	130829063	130829063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:130829063delC	uc004bta.2	-	1	537	c.318delG	c.(316-318)GGGfs	p.G106fs	NAIF1_uc004bsz.2_Intron|SLC25A25_uc004btb.2_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	106	Gly-rich.				apoptosis|induction of apoptosis	nucleus					0						CTGTCCCAGGCCCCCCAGCTC	0.701												
SPTAN1	6709	broad.mit.edu	37	9	131371511	131371511	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:131371511delA	uc004bvl.3	+	36	4819	c.4706delA	c.(4705-4707)GAAfs	p.E1569fs	SPTAN1_uc004bvm.3_Frame_Shift_Del_p.E1569fs|SPTAN1_uc004bvn.3_Frame_Shift_Del_p.E1549fs	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1569	Spectrin 17.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TGGATCAGTGAAAAATTGCAA	0.458												
PNPLA7	375775	broad.mit.edu	37	9	140356679	140356679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:140356679delG	uc004cnf.2	-	30	3859	c.3522delC	c.(3520-3522)CCCfs	p.P1174fs	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Frame_Shift_Del_p.P421fs|PNPLA7_uc004cne.1_Frame_Shift_Del_p.P440fs|PNPLA7_uc011mfa.1_Frame_Shift_Del_p.P582fs|PNPLA7_uc010ncj.1_Frame_Shift_Del_p.P1199fs|NELF_uc004cna.2_5'Flank|NELF_uc011mez.1_5'Flank|NELF_uc004cmz.2_5'Flank|NELF_uc004cnc.2_5'Flank|NELF_uc004cnb.2_5'Flank	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1174					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGCTGTCGATGGGGGGGCGCA	0.652												
PNPLA7	375775	broad.mit.edu	37	9	140437890	140437890	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:140437890delT	uc004cnf.2	-	5	762	c.425delA	c.(424-426)AACfs	p.N142fs	PNPLA7_uc010ncj.1_Frame_Shift_Del_p.N167fs	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	142					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTACCGAACGTTTTTCAGCAT	0.637												
ARSD	414	broad.mit.edu	37	X	2825315	2825315	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:2825315delG	uc004cqy.2	-	10	1855	c.1779delC	c.(1777-1779)CCCfs	p.P593fs	ARSD_uc004cqz.1_RNA	NM_001669	NP_001660	P51689	ARSD_HUMAN	arylsulfatase D isoform a precursor	593						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)				CTGGCATTCAGGGGGTGCCAT	0.537												
CNKSR2	22866	broad.mit.edu	37	X	21609255	21609256	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:21609255_21609256insA	uc004czx.1	+	15	1809_1810	c.1773_1774insA	c.(1771-1776)TGGAAAfs	p.W591fs	CNKSR2_uc004czw.2_Frame_Shift_Ins_p.W591fs|CNKSR2_uc011mjn.1_Frame_Shift_Ins_p.W542fs|CNKSR2_uc011mjo.1_Frame_Shift_Ins_p.W561fs|CNKSR2_uc004czy.2_Frame_Shift_Ins_p.W183fs	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	591_592	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						CACAGAAATGGAAAAAATATTG	0.376												
IQSEC2	23096	broad.mit.edu	37	X	53285177	53285177	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:53285177delG	uc004dsd.2	-	3	1005	c.804delC	c.(802-804)CCCfs	p.P268fs	IQSEC2_uc004dsc.2_Frame_Shift_Del_p.P63fs	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	258					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						TCAGCCGGTAGGGGGGTTGGC	0.672												
RPS6KA6	27330	broad.mit.edu	37	X	83403063	83403063	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:83403063delT	uc004eej.1	-	4	404	c.327delA	c.(325-327)AAAfs	p.K109fs	RPS6KA6_uc011mqt.1_Frame_Shift_Del_p.K109fs|RPS6KA6_uc011mqu.1_Frame_Shift_Del_p.K6fs|RPS6KA6_uc010nmo.1_RNA	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	109	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TTAAAGAGGCTTTTTTTAACA	0.303												
PDZD4	57595	broad.mit.edu	37	X	153070220	153070220	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:153070220delC	uc004fiz.1	-	8	1148	c.898delG	c.(898-900)GACfs	p.D300fs	PDZD4_uc004fiy.1_Frame_Shift_Del_p.D225fs|PDZD4_uc004fix.2_Frame_Shift_Del_p.D204fs|PDZD4_uc004fja.1_Frame_Shift_Del_p.D306fs|PDZD4_uc011mze.1_Frame_Shift_Del_p.D191fs	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	300						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGTTCGTCCCCCAGCAGG	0.667												
NLGN4Y	22829	broad.mit.edu	37	Y	16942150	16942150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrY:16942150delC	uc004ftg.2	+	5	1604	c.1352delC	c.(1351-1353)GCCfs	p.A451fs	NLGN4Y_uc004fte.2_Frame_Shift_Del_p.A283fs|NLGN4Y_uc011nas.1_Frame_Shift_Del_p.A471fs|NLGN4Y_uc004ftf.2_Frame_Shift_Del_p.A144fs|NLGN4Y_uc004fth.2_Frame_Shift_Del_p.A451fs	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	451	Extracellular (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						CAGTGGGTGGCCCCCGCCGTG	0.587												
B3GALT6	126792	broad.mit.edu	37	1	1168240	1168241	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:1168239_1168240C>CG	uc001adk.3	+	0	611_612	c.581_582C>CG	c.(580-582)ccgfs	p.P194fs	SDF4_uc001adh.4_5'Flank|SDF4_uc001adi.4_5'Flank|SDF4_uc009vjw.3_5'Flank	NM_080605	NP_542172	Q96L58	B3GT6_HUMAN	Homo sapiens UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 (B3GALT6), mRNA.	194					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCGTCAAGCCGGGGGGGCGCT	0.772												
SPEN	23013	broad.mit.edu	37	1	16255883	16255883	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:16255882_16255882TA>T	uc001axk.1	+	10	3351	c.3147_3147TA>T	c.(3145-3147)tctfs	p.S1049fs	SPEN_uc010obp.1_Frame_Shift_Del_p.S1008fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1049					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAGAGAATCTAAAAAAATCA	0.463												
SPEN	23013	broad.mit.edu	37	1	16258889	16258889	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:16258888_16258888CA>C	uc001axk.1	+	10	6357	c.6153_6153CA>C	c.(6151-6153)gacfs	p.D2051fs	SPEN_uc010obp.1_Frame_Shift_Del_p.D2010fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2051					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGGCACAGACAAAAACCCCC	0.507												
PAX7	5081	broad.mit.edu	37	1	18958157	18958157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:18958156_18958156AC>A	uc001bay.3	+	0	657	c.59_59AC>A	c.(58-60)tacfs	p.Y20fs	PAX7_uc001baz.3_Frame_Shift_Del_p.Y20fs|PAX7_uc010oct.2_Frame_Shift_Del_p.Y20fs	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	20					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GGGCAGAACTACCCCCGCACG	0.667			T	FOXO1A	alveolar rhabdomyosarcoma							
EIF4G3	8672	broad.mit.edu	37	1	21306905	21306905	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:21306904_21306904TG>T	uc001bec.3	-	4	504	c.248_248CA>A	c.(247-249)caafs	p.Q83fs	EIF4G3_uc010odj.2_Frame_Shift_Del_p.Q83fs|EIF4G3_uc009vpz.3_Frame_Shift_Del_p.Q83fs|EIF4G3_uc001bef.3_Frame_Shift_Del_p.Q83fs|EIF4G3_uc001bee.3_Frame_Shift_Del_p.Q90fs|EIF4G3_uc001beg.3_Frame_Shift_Del_p.Q83fs|EIF4G3_uc010odk.2_Frame_Shift_Del_p.Q83fs|EIF4G3_uc001beh.3_Frame_Shift_Del_p.Q94fs	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	83					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity	p.P82R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGATATTGTTGGGGGGGCCC	0.443												
CNKSR1	10256	broad.mit.edu	37	1	26515997	26515997	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	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												
HMGN2	3151	broad.mit.edu	37	1	26800609	26800609	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:26800608_26800608TA>T	uc001bmp.4	+	3	325	c.123_123TA>T	c.(121-123)cctfs	p.P41fs		NM_005517	NP_005508	P05204	HMGN2_HUMAN	Homo sapiens high mobility group nucleosomal binding domain 2 (HMGN2), mRNA.	41					chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|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)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AGCCCAAGCCTAAAAAGGCCC	0.438												
NASP	4678	broad.mit.edu	37	1	46073055	46073055	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:46073054_46073054CA>C	uc001coi.2	+	5	630	c.471_471CA>C	c.(469-471)gccfs	p.A157fs	NASP_uc010olq.2_Frame_Shift_Del_p.A120fs|NASP_uc021omz.1_Frame_Shift_Del_p.A159fs|NASP_uc001coj.2_Intron|NASP_uc010olr.2_Frame_Shift_Del_p.A93fs|NASP_uc001cok.2_Frame_Shift_Del_p.A40fs	NM_002482	NP_002473	P49321	NASP_HUMAN	Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.	157	Glu-rich (acidic).				DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AAGAAGAAGCCAAAAAAACAG	0.393												
ZCCHC11	23318	broad.mit.edu	37	1	52947291	52947292	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:52947290_52947291T>TG	uc001cty.2	-	10	1905_1906	c.1652_1653A>CA	c.(1651-1653)ccafs	p.P551fs	ZCCHC11_uc001ctx.2_Frame_Shift_Ins_p.P551fs|ZCCHC11_uc009vze.1_Frame_Shift_Ins_p.P551fs|ZCCHC11_uc009vzf.1_Frame_Shift_Ins_p.P310fs|ZCCHC11_uc001cub.3_Frame_Shift_Ins_p.P551fs|ZCCHC11_uc001cuc.2_Non-coding_Transcript	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	551					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CCATTCTTTTTGGGTCAAAGCC	0.332												
LRRC8C	84230	broad.mit.edu	37	1	90178382	90178382	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:90178381_90178381TA>T	uc001dnl.4	+	2	494	c.252_252TA>T	c.(250-252)cctfs	p.P84fs		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	84						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGCCTCCACCTAAACCATCTC	0.473												
ARNT	405	broad.mit.edu	37	1	150789283	150789283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:150789282_150789282CG>C	uc001evr.2	-	17	1985	c.1784_1784CG>G	c.(1783-1785)cggfs	p.R595fs	ARNT_uc010pck.2_Frame_Shift_Del_p.R84fs|ARNT_uc001evs.2_Frame_Shift_Del_p.R580fs|ARNT_uc009wmd.2_Frame_Shift_Del_p.R580fs|ARNT_uc009wmb.2_Frame_Shift_Del_p.R581fs|ARNT_uc009wmc.2_Frame_Shift_Del_p.R595fs	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	595					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCTGCCGGCCGGGGGGTAGG	0.522			T	ETV6	AML							
GON4L	54856	broad.mit.edu	37	1	155823172	155823172	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:155823171_155823171AT>A	uc001flz.2	-	1	498	c.401_401AT>T	c.(400-402)atgfs	p.M134fs	GON4L_uc001fly.1_Frame_Shift_Del_p.M134fs|GON4L_uc009wrh.1_Frame_Shift_Del_p.M134fs|GON4L_uc001fma.1_Frame_Shift_Del_p.M134fs|GON4L_uc001fmc.3_Frame_Shift_Del_p.M134fs|GON4L_uc001fmd.4_Frame_Shift_Del_p.M134fs|GON4L_uc009wri.3_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	134					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.K133K(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTGAGTGTCATTTTTTTCCC	0.458												
FMN2	56776	broad.mit.edu	37	1	240370840	240370840	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:240370839_240370839AC>A	uc010pye.2	+	5	2964	c.2739_2739AC>A	c.(2737-2739)ccafs	p.P913fs	FMN2_uc010pyd.2_Frame_Shift_Del_p.P909fs	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	909	FH1.|Pro-rich.				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			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAATGCTGCCACCCCCTCCCC	0.657												
OR2T11	127077	broad.mit.edu	37	1	248789732	248789732	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr1:248789731_248789731CT>C	uc001ier.1	-	0	699	c.699_699AG>G	c.(697-699)aagfs	p.K233fs		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGTGAAGGCCTTTTTGCGAC	0.532												
APOB	338	broad.mit.edu	37	2	21233672	21233673	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:21233671_21233672T>TG	uc002red.3	-	25	6196_6197	c.6068_6069A>CA	c.(6067-6069)ccafs	p.P2023fs		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2023					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			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCACTTTAATTGGGGAGTCTAG	0.421												
EMILIN1	11117	broad.mit.edu	37	2	27302057	27302057	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:27302056_27302056CG>C	uc002rii.4	+	0	622	c.123_123CG>C	c.(121-123)cccfs	p.P41fs	EMILIN1_uc010eyq.2_Frame_Shift_Del_p.P41fs	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	41					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTCAGCCCCGGGGGGCCCC	0.682												
MSH6	2956	broad.mit.edu	37	2	48030640	48030641	+	Frame_Shift_Ins	INS	-	-	C	rs63749866		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:48030639_48030640A>AC	uc002rwd.4	+	4	3405_3406	c.3253_3254A>AC	c.(3253-3255)accfs	p.T1085fs	MSH6_uc010fbj.3_Frame_Shift_Ins_p.T783fs|MSH6_uc010yoj.2_Frame_Shift_Ins_p.T783fs	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1085					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.F1088fs*5(1)|p.F1088fs*2(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCGGAAGATACCCCCCCCTTC	0.436			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome			
C2orf42	54980	broad.mit.edu	37	2	70406777	70406777	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:70406776_70406776TA>T	uc002sgh.3	-	4	1152	c.824_splice	c.e4-1	p.G275_splice		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	275										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTTAAGACCTAAAAAAAAGA	0.353												
ANKRD23	200539	broad.mit.edu	37	2	97507821	97507821	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:97507820_97507820TG>T	uc002sxa.3	-	2	306	c.277_277CA>A	c.(277-279)aggfs	p.R93fs	ANKRD23_uc002sxb.3_Non-coding_Transcript|ANKRD23_uc002sxc.3_Frame_Shift_Del_p.R93fs	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	Homo sapiens ankyrin repeat domain 23 (ANKRD23), mRNA.	93						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TCAGGTTTCCTGGGGGGGACT	0.532												
TMEM131	23505	broad.mit.edu	37	2	98429195	98429196	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:98429194_98429195T>TG	uc002syh.4	-	15	1864_1865	c.1635_1636A>CA	c.(1633-1638)cccaaafs	p.P545fs		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	545						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCTCTATTTTGGGGGGCAATA	0.297												
INPP4A	3631	broad.mit.edu	37	2	99163123	99163123	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:99163122_99163122CA>C	uc002syy.3	+	12	1521	c.1128_1128CA>C	c.(1126-1128)cgcfs	p.R376fs	INPP4A_uc010yvj.1_Frame_Shift_Del_p.R376fs|INPP4A_uc010yvk.2_Frame_Shift_Del_p.R376fs|INPP4A_uc002syx.3_Frame_Shift_Del_p.R376fs|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	376					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GAGGTCTCCGCAAAAAGCTGC	0.458												
EIF5B	9669	broad.mit.edu	37	2	99977650	99977651	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:99977649_99977650T>TA	uc002tab.3	+	3	469_470	c.285_286T>TA	c.(283-288)gataaafs	p.D95fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	95	Poly-Lys.				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCAAAAGATAAAAAAAAGAA	0.307												
EIF5B	9669	broad.mit.edu	37	2	100011328	100011329	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:100011327_100011328CAG>C	uc002tab.3	+	20	3419_3420	c.3235_3236CAG>C	c.(3235-3237)cagfs	p.Q1079fs	EIF5B_uc010yvq.2_Frame_Shift_Del_p.Q61fs	NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	1079					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTACAAGAAACAGAAACAAGAA	0.282												
TMEM87B	84910	broad.mit.edu	37	2	112839024	112839024	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:112839023_112839023AT>A	uc002thm.2	+	7	1135	c.766_766AT>A	c.(766-768)attfs	p.I256fs	TMEM87B_uc010fkg.2_Frame_Shift_Del_p.I239fs|TMEM87B_uc010fkh.2_3'UTR	NM_032824	NP_116213	Q96K49	TM87B_HUMAN	Homo sapiens transmembrane protein 87B (TMEM87B), mRNA.	256						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TGCAGCTGTTATTTTTTTGGG	0.343												
MBD5	55777	broad.mit.edu	37	2	149226443	149226444	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:149226442_149226443G>GA	uc002twm.4	+	8	1927_1928	c.930_931G>GA	c.(928-933)atgaaafs	p.M310fs	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	310						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTCCAGTAATGAAAAAACCAAT	0.450												
HOXD10	3236	broad.mit.edu	37	2	176981597	176981598	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:176981596_176981597C>CT	uc002ukj.3	+	0	105_106	c.35_36C>CT	c.(34-36)actfs	p.T12fs		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	12						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCTGCTAATACTTTTTTAGTAG	0.460												
ZC3H15	55854	broad.mit.edu	37	2	187370510	187370512	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:187370509_187370511AATG>A	uc002upo.3	+	7	1132_1134	c.907_909AATG>A	c.(907-909)aat>A	p.N303del	ZC3H15_uc021vts.1_5'Flank	NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.	303						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGAACTGGTCAATGATGATGATG	0.414												
DNAJB2	3300	broad.mit.edu	37	2	220146725	220146725	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:220146724_220146724GC>G	uc002vkx.1	+	4	530	c.293_293GC>G	c.(292-294)agcfs	p.S98fs	DNAJB2_uc010zla.1_Frame_Shift_Del_p.S98fs|DNAJB2_uc002vkw.1_Frame_Shift_Del_p.S98fs|DNAJB2_uc010zlb.1_5'Flank	NM_006736	NP_006727	P25686	DNJB2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2), transcript variant 2, mRNA.	98					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	Hsp70 protein binding|heat shock protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTTCCGCAGCCCCGAGGAG	0.587												
ANKMY1	51281	broad.mit.edu	37	2	241468685	241468685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr2:241468684_241468684GA>G	uc010fzd.1	-	4	848	c.723_723TC>C	c.(721-723)ttcfs	p.F241fs	ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Frame_Shift_Del_p.F152fs|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	152							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		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)		TATAGTCATAGAAAAAGGGAT	0.512												
CAPN7	23473	broad.mit.edu	37	3	15283047	15283047	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:15283046_15283046AG>A	uc003bzn.3	+	14	2009	c.1739_1739AG>A	c.(1738-1740)cagfs	p.Q580fs		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	Homo sapiens calpain 7 (CAPN7), mRNA.	580	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CAGTGTCCACAGGGGGGTGCT	0.428												
PTPN23	25930	broad.mit.edu	37	3	47454482	47454483	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:47454481_47454482C>CT	uc003crf.1	+	24	4813_4814	c.4717_4718C>CT	c.(4717-4719)cccfs	p.P1573fs	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Frame_Shift_Ins_p.P1443fs|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1573	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCGGGGCCCCCCTCCTCCTCC	0.649												
ATRIP	84126	broad.mit.edu	37	3	48501288	48501288	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:48501287_48501287AC>A	uc003ctf.1	+	6	1059	c.1027_1027AC>A	c.(1027-1029)accfs	p.T343fs	ATRIP_uc011bbj.1_Frame_Shift_Del_p.T216fs|ATRIP_uc003ctg.1_Frame_Shift_Del_p.T343fs|TREX1_uc010hjy.3_5'UTR	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	343				T -> A (in Ref. 2; BAF84257).	DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCTGCTGGCACCCCCCTGCA	0.532								Other conserved DNA damage response genes				
STAB1	23166	broad.mit.edu	37	3	52556205	52556205	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:52556204_52556204CG>C	uc003dej.3	+	58	6497	c.6423_6423CG>C	c.(6421-6423)cgcfs	p.R2141fs	STAB1_uc003dek.1_Frame_Shift_Del_p.R156fs|STAB1_uc003del.3_Frame_Shift_Del_p.R28fs	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2141	EGF-like 16.				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)		ATGGCCACCGCGGGGGCTGCA	0.667												
APPL1	26060	broad.mit.edu	37	3	57294708	57294708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:57294707_57294707CT>C	uc003dio.3	+	18	1894	c.1747_1747CT>C	c.(1747-1749)cttfs	p.L583fs	APPL1_uc010hnb.3_Frame_Shift_Del_p.L583fs|APPL1_uc011bey.1_Frame_Shift_Del_p.L566fs	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	583	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AAATAAGCGCCTTTTTGGATT	0.393												
EPHA3	2042	broad.mit.edu	37	3	89499363	89499363	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:89499362_89499362AC>A	uc003dqy.3	+	14	2757	c.2532_2532AC>A	c.(2530-2532)ccafs	p.P844fs	EPHA3_uc021xbf.1_Frame_Shift_Del_p.P844fs	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	844	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATCGACTGCCACCCCCCATGG	0.468										TSP Lung(6;0.00050)		
SENP7	57337	broad.mit.edu	37	3	101085608	101085608	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:101085607_101085607GT>G	uc003dut.3	-	8	1096	c.985_985AC>C	c.(985-987)caafs	p.Q329fs	SENP7_uc003duu.3_Frame_Shift_Del_p.Q264fs|SENP7_uc003duv.3_Frame_Shift_Del_p.Q296fs|SENP7_uc003duw.3_Frame_Shift_Del_p.Q263fs|SENP7_uc003dux.3_Frame_Shift_Del_p.Q165fs	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	329					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCATCTTCTTGTTTTTTCTAA	0.274												
C3orf17	25871	broad.mit.edu	37	3	112730081	112730081	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:112730080_112730080AT>A	uc003dzr.3	-	5	786	c.725_725AT>T	c.(724-726)atgfs	p.M242fs	C3orf17_uc011bia.2_Intron|C3orf17_uc003dzu.3_Frame_Shift_Del_p.M171fs|C3orf17_uc011bib.2_Frame_Shift_Del_p.M131fs|C3orf17_uc011bic.2_Frame_Shift_Del_p.M75fs|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_Intron|C3orf17_uc003dzt.3_Frame_Shift_Del_p.M145fs|C3orf17_uc003dzs.3_Frame_Shift_Del_p.M106fs|C3orf17_uc010hqg.3_Frame_Shift_Del_p.M67fs	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	242						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						AGCTATAGGCATTTTTTTCTT	0.338												
EEFSEC	60678	broad.mit.edu	37	3	128060203	128060204	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:128060202_128060203G>GC	uc003eki.3	+	4	951_952	c.913_914G>GC	c.(913-915)gccfs	p.A305fs		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	305						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GTTGGTGTGTGCCCCCGAGTCC	0.584												
SRPRB	58477	broad.mit.edu	37	3	133524738	133524739	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:133524737_133524738C>CG	uc003epx.2	+	1	330_331	c.45_46C>CG	c.(43-48)gccgggfs	p.A15fs		NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN	Homo sapiens signal recognition particle receptor, B subunit (SRPRB), mRNA.	15						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	p.G14S(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						GCGGCGGTGCCGGGGGCACCTT	0.668												
ARL14	80117	broad.mit.edu	37	3	160395474	160395474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:160395473_160395473TA>T	uc003fdq.3	+	0	526	c.339_339TA>T	c.(337-339)attfs	p.I113fs		NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Homo sapiens ADP-ribosylation factor-like 14 (ARL14), mRNA.	113					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			ATGAACACATTAAAAATGTGC	0.438												
SERPINI1	5274	broad.mit.edu	37	3	167507159	167507159	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:167507158_167507158TA>T	uc003ffa.4	+	1	440	c.242_242TA>T	c.(241-243)ctafs	p.L81fs	SERPINI1_uc003ffb.4_Frame_Shift_Del_p.L81fs	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	81					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.L81Q(2)|p.S80I(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TATGACAGCCTAAAAAATGGT	0.388												
PRKCI	5584	broad.mit.edu	37	3	169998165	169998166	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr3:169998164_169998165G>GA	uc003fgs.2	+	8	1093_1094	c.855_856G>GA	c.(853-858)gtgaaafs	p.V285fs		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	285	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGAAAGTTGTGAAAAAAGAGCT	0.327												
REST	5978	broad.mit.edu	37	4	57796315	57796316	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:57796314_57796315C>CA	uc003hch.3	+	3	1637_1638	c.1290_1291C>CA	c.(1288-1293)accaaafs	p.T430fs	REST_uc003hci.3_Frame_Shift_Ins_p.T430fs|REST_uc010ihf.3_Frame_Shift_Ins_p.T104fs	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	430	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TAAAGAAAACCAAAAAACGAGA	0.332												
AFM	173	broad.mit.edu	37	4	74347532	74347533	+	Frame_Shift_Ins	INS	-	-	T	rs145217978	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:74347531_74347532G>GT	uc003hhb.3	+	0	70_71	c.39_40G>GT	c.(37-42)ttgtttfs	p.L13fs		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	13					vitamin transport		vitamin E binding	p.F12L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTTTTTCTTGTTTTTTTTGAC	0.312												
SDAD1	55153	broad.mit.edu	37	4	76891521	76891521	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:76891520_76891520CT>C	uc003hje.4	-	9	944	c.825_825AG>G	c.(823-825)aagfs	p.K275fs	SDAD1_uc003hjf.4_Frame_Shift_Del_p.K178fs|SDAD1_uc011cbr.2_Frame_Shift_Del_p.K238fs	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	275					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTTTTTTCTTCTTTTTTTGTT	0.378												
KIAA1109	84162	broad.mit.edu	37	4	123165029	123165030	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:123165028_123165029G>GA	uc003ieh.3	+	28	4807_4808	c.4762_4763G>GA	c.(4762-4764)gaafs	p.E1588fs	KIAA1109_uc003iek.2_Frame_Shift_Ins_p.E207fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1588					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TACTCCATTGGAAAAAAAACTC	0.381												
WDR17	116966	broad.mit.edu	37	4	177050004	177050005	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:177050003_177050004G>GA	uc003iuj.3	+	6	1280_1281	c.977_978G>GA	c.(976-978)agafs	p.R326fs	WDR17_uc003ium.4_Frame_Shift_Ins_p.R302fs|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	326										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCTCCTCCAAGAAAAAAGTGTA	0.248												
STOX2	56977	broad.mit.edu	37	4	184930544	184930545	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:184930543_184930544CTG>C	uc003ivz.1	+	2	1987_1988	c.552_553CTG>C	c.(550-555)ggctgtfs	p.G184fs	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	184					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		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)		CTGCCTCAGGCTGTGTCAGGGA	0.564												
SORBS2	8470	broad.mit.edu	37	4	186544439	186544439	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr4:186544438_186544438AT>A	uc003iyg.3	-	12	2507	c.2475_2475AT>T	c.(2473-2475)aatfs	p.N825fs	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Frame_Shift_Del_p.N811fs|SORBS2_uc003iyl.3_Frame_Shift_Del_p.N711fs|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Frame_Shift_Del_p.N615fs|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	711						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGGAGCCGAATTTTTTTTCC	0.453												
C5orf42	65250	broad.mit.edu	37	5	37167150	37167150	+	Splice_Site	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:37167149_37167149CT>C	uc011cpa.1	-	35	7631	c.7400_splice	c.e35+1	p.R2467_splice	C5orf42_uc011coy.1_Splice_Site_p.R967_splice|C5orf42_uc003jks.2_Splice_Site|C5orf42_uc011coz.1_Splice_Site_p.R1542_splice	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2467										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAAGCCTTGCCTTTTTTTACT	0.328												
PAPD4	167153	broad.mit.edu	37	5	78938657	78938658	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:78938656_78938657G>GT	uc010jae.1	+	7	1092_1093	c.674_675G>GT	c.(673-675)tgtfs	p.C225fs	PAPD4_uc003kgb.2_Frame_Shift_Ins_p.C225fs|PAPD4_uc010jaf.1_Frame_Shift_Ins_p.C225fs|PAPD4_uc003kga.2_Intron|PAPD4_uc003kfz.2_Frame_Shift_Ins_p.C225fs	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	225					RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		ACTTTTCAGTGTTTTTTTCAGG	0.302												
VCAN	1462	broad.mit.edu	37	5	82875813	82875813	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:82875812_82875812GC>G	uc003kii.3	+	13	10250	c.9894_9894GC>G	c.(9892-9894)cagfs	p.Q3298fs	VCAN_uc003kij.3_Frame_Shift_Del_p.Q2311fs|VCAN_uc010jau.2_Frame_Shift_Del_p.Q1544fs|VCAN_uc003kik.3_Frame_Shift_Del_p.Q557fs|VCAN_uc003kil.3_Frame_Shift_Del_p.Q1962fs	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3298	Sushi.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTTGCGGCCAGCCCCCTGTTG	0.373												
ZNF608	57507	broad.mit.edu	37	5	123984684	123984684	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:123984683_123984683GC>G	uc003ktq.1	-	3	1577	c.1394_1394GC>C	c.(1393-1395)gccfs	p.A465fs	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Del_p.A465fs|ZNF608_uc003ktt.1_Frame_Shift_Del_p.A465fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	465						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCATTGGCCCCCCCTCT	0.627												
KDM3B	51780	broad.mit.edu	37	5	137756625	137756625	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:137756624_137756624TC>T	uc003lcy.1	+	14	4145	c.3945_3945TC>T	c.(3943-3945)tttfs	p.F1315fs	KDM3B_uc010jew.1_Frame_Shift_Del_p.F971fs|KDM3B_uc011cys.1_Frame_Shift_Del_p.F347fs	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1315					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCATACCCTTTCCCCCGGTCT	0.507												
TCOF1	6949	broad.mit.edu	37	5	149777932	149777932	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr5:149777931_149777931GA>G	uc003lry.3	+	24	4465	c.4357_4357GA>G	c.(4357-4359)gaafs	p.E1453fs	TCOF1_uc003lrz.3_Frame_Shift_Del_p.E1415fs|TCOF1_uc011dch.2_Frame_Shift_Del_p.E1416fs|TCOF1_uc003lrx.3_Frame_Shift_Del_p.E1377fs|TCOF1_uc003lsa.3_Frame_Shift_Del_p.E1376fs	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	1453	Poly-Lys.				skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aaaagacaaagaaaaaaaaga	0.423												
BMP6	654	broad.mit.edu	37	6	7862547	7862547	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:7862546_7862546AC>A	uc003mxu.4	+	3	1197	c.1019_1019AC>A	c.(1018-1020)cacfs	p.H340fs		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	340					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GTCCACGTCCACCCCCGAGCC	0.522												
HLA-A	3105	broad.mit.edu	37	6	29911900	29911900	+	Splice_Site	DEL	C	C	-	rs75368153		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:29911899_29911899AC>A	uc003nol.3	+	4	704	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCCCGTCAGACCCCCCCAAG	0.577									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)		
HLA-DQA2	3118	broad.mit.edu	37	6	32709239	32709240	+	In_Frame_Ins	INS	-	-	CTG			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:32709238_32709239T>TCTG	uc003obx.3	+	0	76_77	c.18_19T>TCTG	c.(16-21)gctctg>gcTCTGtg	p.6_7AL>AL		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	6					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAAACAAAGCTCTGCTGCTGGG	0.535												
C6orf89	221477	broad.mit.edu	37	6	36867371	36867372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:36867370_36867371A>AC	uc003omw.3	+	1	334_335	c.171_172A>AC	c.(169-174)agacccfs	p.R57fs	C6orf89_uc003omv.3_5'UTR|C6orf89_uc003omx.3_Frame_Shift_Ins_p.R50fs|C6orf89_uc011dtr.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	50						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431												
DEFB113	245927	broad.mit.edu	37	6	49936566	49936567	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:49936565_49936566G>GT	uc011dwq.2	-	1	73_74	c.73_74C>AC	c.(73-75)acafs	p.T25fs		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	Homo sapiens defensin, beta 113 (DEFB113), mRNA.	25					defense response to bacterium	extracellular region				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					AACTTCTCTTGTTTTTTTCTGT	0.351												
DST	667	broad.mit.edu	37	6	56401586	56401587	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:56401585_56401586TGA>T	uc003pcy.4	-	42	9000_9001	c.8892_8893TCA>A	c.(8890-8895)ctcaatfs	p.L2964fs		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5376					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	p.N5379D(1)|p.N2965D(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCTTCTTATTGAGAGTCTTCC	0.431												
AKD1	221264	broad.mit.edu	37	6	109850222	109850222	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:109850221_109850221CT>C	uc003ptn.2	-	28	3703	c.3626_3626AG>G	c.(3625-3627)aggfs	p.R1209fs	AKD1_uc011eat.1_Frame_Shift_Del_p.R288fs	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1209					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TACCTCCCTCCTTTTTTTATC	0.378												
TULP4	56995	broad.mit.edu	37	6	158923753	158923754	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:158923752_158923753C>CG	uc003qrf.3	+	12	4414_4415	c.3057_3058C>CG	c.(3055-3060)cccgggfs	p.P1019fs	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	1019					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.V1022fs*80(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGGGCGGGCCCGGGGGGGTGGT	0.723												
PHF10	55274	broad.mit.edu	37	6	170104148	170104148	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr6:170104147_170104147TG>T	uc011egy.2	-	11	1528	c.1449_1449CA>A	c.(1447-1449)ccafs	p.P483fs	WDR27_uc003qwx.3_5'Flank|WDR27_uc003qwy.3_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.3_5'Flank|C6orf120_uc003qxb.3_3'UTR|PHF10_uc011egz.2_Frame_Shift_Del_p.P481fs	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN	Homo sapiens PHD finger protein 10 (PHF10), transcript variant 1, mRNA.	483					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TCCTGGGTGTTGGGGGGGCCC	0.393												
ETV1	2115	broad.mit.edu	37	7	13975473	13975473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:13975472_13975472TG>T	uc021zzz.1	-	5	502	c.415_415CA>A	c.(415-417)acafs	p.T139fs	ETV1_uc021zzt.1_Frame_Shift_Del_p.T99fs|ETV1_uc021zzu.1_Intron|ETV1_uc021zzv.1_Frame_Shift_Del_p.T81fs|ETV1_uc021zzw.1_Frame_Shift_Del_p.T99fs|ETV1_uc021zzx.1_Intron|ETV1_uc021zzy.1_Frame_Shift_Del_p.T81fs|ETV1_uc022aaa.1_Frame_Shift_Del_p.T121fs|ETV1_uc022aab.1_Frame_Shift_Del_p.T139fs|ETV1_uc003ssw.4_Frame_Shift_Del_p.T139fs|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Frame_Shift_Del_p.T121fs|ETV1_uc022aad.1_Frame_Shift_Del_p.T121fs|ETV1_uc010ktv.3_Frame_Shift_Del_p.T8fs	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	139					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTG	0.532			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""							
ABCA13	154664	broad.mit.edu	37	7	48313595	48313595	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:48313594_48313594TA>T	uc003toq.2	+	16	4355	c.4331_4331TA>T	c.(4330-4332)atafs	p.I1444fs	ABCA13_uc010kyr.2_Frame_Shift_Del_p.I947fs|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1444					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGTTAAATATAAAAAAACCT	0.269												
ABCA13	154664	broad.mit.edu	37	7	48317944	48317944	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:48317943_48317943CT>C	uc003toq.2	+	17	7176	c.7152_7152CT>C	c.(7150-7152)gacfs	p.D2384fs	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2384					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATAATATAGACTTTTTCACAG	0.353												
PIK3CG	5294	broad.mit.edu	37	7	106508995	106508995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:106508994_106508994AC>A	uc003vdv.4	+	1	1073	c.988_988AC>A	c.(988-990)acgfs	p.T330fs	PIK3CG_uc003vdu.3_Frame_Shift_Del_p.T330fs|PIK3CG_uc003vdw.3_Frame_Shift_Del_p.T330fs	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	330					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGATGACTGCACGGGAGTCAC	0.597												
WNT16	51384	broad.mit.edu	37	7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:120971878_120971878TG>T	uc003vjw.3	+	2	750	c.493_493TG>T	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Del_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTG	0.537												
MLL3	58508	broad.mit.edu	37	7	151845524	151845524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr7:151845523_151845523TA>T	uc003wla.3	-	51	13708	c.13489_13489TA>A	c.(13489-13491)aagfs	p.K4497fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.K3615fs|MLL3_uc003wkx.3_Frame_Shift_Del_p.K655fs|MLL3_uc003wky.3_Frame_Shift_Del_p.K2061fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4497					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.M4551fs*17(1)|p.M4494fs*17(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTTTTGTCCTTAAAAAACATG	0.433			N		medulloblastoma							
KIAA1967	57805	broad.mit.edu	37	8	22472975	22472976	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:22472974_22472975A>AC	uc003xch.3	+	11	1491_1492	c.1242_1243A>AC	c.(1240-1245)ggacccfs	p.G414fs	KIAA1967_uc003xci.3_Frame_Shift_Ins_p.G414fs|KIAA1967_uc003xcj.1_Frame_Shift_Ins_p.G83fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	414					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	p.P413P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		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)		TGCAGCCGGGACCCCCCCGGCG	0.584												
ADAM28	10863	broad.mit.edu	37	8	24167473	24167474	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:24167472_24167473G>GA	uc003xdy.3	+	2	299_300	c.216_217G>GA	c.(214-219)ttgaaafs	p.L72fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.L72fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	72					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332												
GOT1L1	137362	broad.mit.edu	37	8	37793281	37793281	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:37793280_37793280TG>T	uc011lbj.1	-	6	971	c.871_871CA>A	c.(871-873)aacfs	p.N291fs		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.	291					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCACCCGTGTTGGGGGGGTTT	0.607												
RB1CC1	9821	broad.mit.edu	37	8	53568877	53568877	+	Frame_Shift_Del	DEL	T	T	-	rs138517468		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:53568876_53568876GT>G	uc003xre.4	-	14	4071	c.3513_3513AC>C	c.(3511-3513)aacfs	p.N1171fs	RB1CC1_uc003xrf.4_Frame_Shift_Del_p.N1171fs	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	1171					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding	p.N1171fs*8(2)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GTTCTTTTAGGTTTTTTTCTA	0.289												
RP1	6101	broad.mit.edu	37	8	55539137	55539138	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:55539136_55539137G>GA	uc003xsd.1	+	3	2842_2843	c.2694_2695G>GA	c.(2692-2697)ttgaaafs	p.L898fs	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	898					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAGCTTCTTTGAAAAAACCTGA	0.332												
NKAIN3	286183	broad.mit.edu	37	8	63831057	63831059	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:63831056_63831058GGAA>G	uc010lyq.1	+	4	648_650	c.516_518GGAA>G	c.(514-519)atggaa>atGa	p.E175del		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	175						integral to membrane|plasma membrane		p.E174V(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GTATTTCCATGGAAGAAGAAGAC	0.374												
SGK3	23678	broad.mit.edu	37	8	67716612	67716612	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:67716611_67716611TA>T	uc003xwp.3	+	6	812	c.181_splice	c.e6-1	p.L61_splice	SGK3_uc003xwr.3_Splice_Site_p.L61_splice|SGK3_uc003xwt.3_Splice_Site_p.L61_splice|SGK3_uc003xwu.3_Splice_Site_p.L61_splice	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	61	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			aaattttagttaaaaaaaCAG	0.299												
ARFGEF1	10565	broad.mit.edu	37	8	68128856	68128857	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	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												
UBR5	51366	broad.mit.edu	37	8	103274272	103274272	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:103274271_103274271CA>C	uc003ykr.2	-	54	8169	c.7714_7714TG>G	c.(7714-7716)gatfs	p.D2572fs	UBR5_uc003yks.2_Frame_Shift_Del_p.D2571fs|UBR5_uc003ykq.3_Frame_Shift_Del_p.D83fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2572	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATTACAGGATCAAAAAAAGCA	0.338												
ZNF572	137209	broad.mit.edu	37	8	125987893	125987893	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:125987892_125987892GA>G	uc003yrr.3	+	1	165	c.10_10GA>G	c.(10-12)gaafs	p.E4fs		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E4Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GATGGAGCAAGAAAAAAAACT	0.398										HNSCC(60;0.17)		
OPLAH	26873	broad.mit.edu	37	8	145109542	145109543	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr8:145109541_145109542T>TGG	uc003zar.3	-	18	2690_2691	c.2608_2609A>CCA	c.(2608-2610)cacfs	p.H870fs	OPLAH_uc003zas.1_Frame_Shift_Ins_p.P144fs	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	870							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	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)	CATGGTGGAGTGGGGGGGCATG	0.639												
TLE1	7088	broad.mit.edu	37	9	84208132	84208132	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:84208131_84208131CG>C	uc004alz.3	-	14	1861	c.1420_1420CG>G	c.(1420-1422)gacfs	p.D474fs	TLE1_uc004aly.3_Frame_Shift_Del_p.D464fs|TLE1_uc011lsr.2_Frame_Shift_Del_p.D449fs|TLE1_uc004ama.1_Frame_Shift_Del_p.D463fs	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	464					Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ATGAGGGCGTCGGGGGGAAAA	0.562												
ZNF367	195828	broad.mit.edu	37	9	99150711	99150711	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:99150710_99150710TG>T	uc004awf.3	-	4	1217	c.862_862CA>A	c.(862-864)actfs	p.T288fs		NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	Homo sapiens zinc finger protein 367 (ZNF367), mRNA.	288					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				CCTTTCAAAGTGGGGGTGCGC	0.463												
COL15A1	1306	broad.mit.edu	37	9	101818643	101818643	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:101818642_101818642CG>C	uc004azb.1	+	34	3499	c.3293_3293CG>C	c.(3292-3294)ccgfs	p.P1098fs		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1098	Triple-helical region 8 (COL8).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTGGGCCACCGGGGCCCCCG	0.627												
SMC2	10592	broad.mit.edu	37	9	106864838	106864838	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:106864837_106864837GA>G	uc004bbv.3	+	8	1291	c.1003_1003GA>G	c.(1003-1005)gaafs	p.E335fs	SMC2_uc004bbu.1_Frame_Shift_Del_p.E335fs|SMC2_uc004bbw.3_Frame_Shift_Del_p.E335fs|SMC2_uc011lvl.2_Frame_Shift_Del_p.E335fs|SMC2_uc010mtg.1_Frame_Shift_Del_p.E190fs|SMC2_uc010mth.1_Frame_Shift_Del_p.E285fs|SMC2_uc004bbx.3_Frame_Shift_Del_p.E335fs	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	335					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CAAAGAGCTGGAAAAAAATAT	0.383												
TRIM32	22954	broad.mit.edu	37	9	119461528	119461528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr9:119461527_119461527AG>A	uc022bmo.1	+	0	1506	c.1506_1506AG>A	c.(1504-1506)tcafs	p.S502fs	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Frame_Shift_Del_p.S502fs|TRIM32_uc004bjx.2_Frame_Shift_Del_p.S502fs	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	502					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						ATCGAGGATCAGGGGTGGTCA	0.522												
ST8SIA6	338596	broad.mit.edu	37	10	17363321	17363322	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:17363320_17363321C>CT	uc001ipd.3	-	7	753_754	c.753_754G>AG	c.(751-756)aaagccfs	p.K251fs	ST8SIA6_uc010qce.2_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	251					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGAAATAGGGCTTTTTTTTCCT	0.347												
SVIL	6840	broad.mit.edu	37	10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:29760115_29760115TC>T	uc001iut.1	-	30	6340	c.5587_5587GA>A	c.(5587-5589)atgfs	p.M1863fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.M777fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.M1437fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1863					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)				TGCACCACCATCCCCCCCTGG	0.527												
SLIT1	6585	broad.mit.edu	37	10	98761090	98761090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:98761089_98761089TC>T	uc001kmw.2	-	36	4637	c.4385_4385GA>A	c.(4384-4386)gacfs	p.D1462fs		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1462	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCGGACAGGGTCCCCCCGGCA	0.667												
PAX2	5076	broad.mit.edu	37	10	102587324	102587324	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:102587323_102587323GC>G	uc001krk.4	+	10	1732	c.1182_1182GC>G	c.(1180-1182)ccgfs	p.P394fs	PAX2_uc001krm.4_Frame_Shift_Del_p.A401fs|PAX2_uc001krn.4_Frame_Shift_Del_p.P371fs|PAX2_uc001kro.4_Frame_Shift_Del_p.A378fs|PAX2_uc010qps.2_Frame_Shift_Del_p.A377fs|PAX2_uc001krl.4_3'UTR	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	394					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TTATAGTGCCGCCCCCCGGGG	0.572												
LBX1	10660	broad.mit.edu	37	10	102987157	102987157	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:102987156_102987156TG>T	uc001ksx.3	-	1	862	c.717_717CA>A	c.(715-717)ccafs	p.P239fs	FLJ41350_uc010qpy.2_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	Homo sapiens ladybird homeobox 1 (LBX1), mRNA.	239					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		TCGGGGCGCCTGGGGGGAGGA	0.761												
BTRC	8945	broad.mit.edu	37	10	103310573	103310574	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr10:103310572_103310573A>AC	uc001kta.3	+	13	1886_1887	c.1773_1774A>AC	c.(1771-1776)gaacccfs	p.E591fs	BTRC_uc001ktb.3_Frame_Shift_Ins_p.E555fs|BTRC_uc001ktc.3_Frame_Shift_Ins_p.E565fs	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	591					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431												
KCNQ1	3784	broad.mit.edu	37	11	2609949	2609949	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:2609948_2609948GA>G	uc001lwn.3	+	9	1365	c.1257_1257GA>G	c.(1255-1257)aagfs	p.K419fs	KCNQ1_uc009ydp.1_Frame_Shift_Del_p.K203fs|KCNQ1_uc001lwo.3_Frame_Shift_Del_p.K292fs	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	419					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTTAGGTAAAGAAAAAAAAGT	0.562												
AMPD3	272	broad.mit.edu	37	11	10500145	10500145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:10500144_10500144GC>G	uc001min.1	+	2	665	c.320_320GC>G	c.(319-321)ggcfs	p.G107fs	AMPD3_uc010rbz.1_Intron|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Frame_Shift_Del_p.G98fs|AMPD3_uc001mio.1_Frame_Shift_Del_p.G98fs|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Frame_Shift_Del_p.G105fs|AMPD3_uc009yfy.2_Frame_Shift_Del_p.G98fs	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	98					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GATTGGAAGGGCCCCCCGGCA	0.577												
SPTY2D1	144108	broad.mit.edu	37	11	18638501	18638501	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:18638500_18638500CT>C	uc001moy.3	-	1	313	c.97_97AG>G	c.(97-99)gacfs	p.D33fs	SPTY2D1_uc010rdi.1_Frame_Shift_Del_p.D33fs	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	33										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						ACTTTTGGGTCTTTTTTTGGA	0.343												
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:35513669_35513669AC>A	uc001mwf.3	-	2	346	c.303_303GT>T	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATG	0.522												
ZNF408	79797	broad.mit.edu	37	11	46726477	46726478	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:46726476_46726477T>TC	uc001nde.2	+	4	1507_1508	c.1226_1227T>TC	c.(1225-1227)ttcfs	p.F409fs	ZNF408_uc010rgw.2_Frame_Shift_Ins_p.F401fs	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGCGGCCCTTCCCCTGTCCAC	0.589												
PTPRJ	5795	broad.mit.edu	37	11	48161293	48161293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:48161292_48161292GC>G	uc001ngp.4	+	10	2762	c.2407_2407GC>G	c.(2407-2409)gccfs	p.A803fs	PTPRJ_uc010rhr.1_Frame_Shift_Del_p.A248fs	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	803	Fibronectin type-III 8.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AAAGATGGCAGCCCCCACCCG	0.537												
GIF	2694	broad.mit.edu	37	11	59599272	59599272	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:59599271_59599271TA>T	uc001noi.3	-	8	1122	c.1074_splice	c.e8-1	p.K358_splice		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	358					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTTTCAAATCTAAAAAAAAGT	0.338												
DDB1	1642	broad.mit.edu	37	11	61070097	61070097	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:61070096_61070096TG>T	uc001nrc.4	-	23	3296	c.3070_3070CA>A	c.(3070-3072)acafs	p.T1024fs	DDB1_uc010rle.1_Frame_Shift_Del_p.T335fs|DDB1_uc010rlf.1_Frame_Shift_Del_p.T1024fs	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	1024	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGCCTTGTGTGGGGGTGGAA	0.572								Nucleotide excision repair (NER)				
GANAB	23193	broad.mit.edu	37	11	62393815	62393815	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:62393814_62393814CA>C	uc001nua.3	-	22	2716	c.2683_2683TG>G	c.(2683-2685)gtcfs	p.V895fs	GANAB_uc001nub.3_Frame_Shift_Del_p.V873fs|GANAB_uc001nuc.3_Frame_Shift_Del_p.V776fs|GANAB_uc010rma.2_Frame_Shift_Del_p.V781fs|GANAB_uc010rmb.2_Frame_Shift_Del_p.V759fs	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	873					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TACCTGGAGACAAGGGTGTTG	0.532												
ATG2A	23130	broad.mit.edu	37	11	64662521	64662521	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:64662520_64662520GC>G	uc001obx.3	-	40	5857	c.5742_5742GC>C	c.(5740-5742)ggcfs	p.G1914fs	AB429224_uc009ypx.3_5'Flank|ATG2A_uc001obw.3_Frame_Shift_Del_p.G679fs	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1914							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGTTGCGCATGCCCCCGAGCA	0.711												
PCNXL3	399909	broad.mit.edu	37	11	65404014	65404014	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:65404013_65404013TC>T	uc001oey.2	+	33	5745	c.5745_5745TC>T	c.(5743-5745)ggtfs	p.G1915fs	PCNXL3_uc001oez.2_Frame_Shift_Del_p.G802fs	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1915	Gly-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCACAGAGGGTCCCCGGACCT	0.711												
RPS6KB2	6199	broad.mit.edu	37	11	67196696	67196696	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:67196695_67196695AG>A	uc001old.3	+	2	306	c.224_224AG>A	c.(223-225)aagfs	p.K75fs		NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 2 (RPS6KB2), mRNA.	75	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTGCTGGGCAAGGGGGGCTAT	0.602												
USP35	57558	broad.mit.edu	37	11	77920856	77920857	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:77920855_77920856A>AC	uc021qny.1	+	9	2310_2311	c.1954_1955A>AC	c.(1954-1956)accfs	p.T652fs	USP35_uc001oze.2_Frame_Shift_Ins_p.T408fs|USP35_uc001ozc.3_Frame_Shift_Ins_p.T220fs|USP35_uc010rsp.2_Frame_Shift_Ins_p.T84fs|USP35_uc001ozd.3_Frame_Shift_Ins_p.T263fs|USP35_uc001ozf.3_Frame_Shift_Ins_p.T383fs	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	652					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CACAGAGGACACCCCCCCCACC	0.609												
C11orf63	79864	broad.mit.edu	37	11	122775058	122775058	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:122775057_122775057GA>G	uc001pym.3	+	2	1066	c.769_769GA>G	c.(769-771)gaafs	p.E257fs	C11orf63_uc001pyl.1_Frame_Shift_Del_p.E257fs	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	257										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACATTTTGTGGAAAAAAACAA	0.463												
JAM3	83700	broad.mit.edu	37	11	134010644	134010644	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr11:134010643_134010643GT>G	uc001qhb.2	+	2	393	c.369_369GT>G	c.(367-369)gtgfs	p.V123fs	JAM3_uc009zcz.2_Frame_Shift_Del_p.V78fs	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA.	78	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		CCACATATGTGTTTTTTGACA	0.448												
CD4	920	broad.mit.edu	37	12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:6924042_6924042AG>A	uc001qqv.2	+	4	749	c.491_491AG>A	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Del_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAG	0.562												
MGST1	4257	broad.mit.edu	37	12	16516906	16516907	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:16516905_16516906G>GT	uc001rdh.3	+	3	541_542	c.398_399G>GT	c.(397-399)agtfs	p.S133fs	MGST1_uc001rdf.3_Frame_Shift_Ins_p.S133fs|MGST1_uc001rdg.3_Frame_Shift_Ins_p.S133fs|MGST1_uc009zih.1_Intron|MGST1_uc001rdi.3_Frame_Shift_Ins_p.S133fs	NM_145791	NP_665735	P10620	MGST1_HUMAN	Homo sapiens microsomal glutathione S-transferase 1 (MGST1), transcript variant 1c, mRNA.	133					protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	AGAGCTTTGAGTTTTTTTGTTG	0.436												
SLCO1B1	10599	broad.mit.edu	37	12	21350012	21350012	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:21350011_21350011CA>C	uc001req.4	+	7	963	c.859_859CA>C	c.(859-861)caafs	p.Q287fs		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	287					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AAATAAACCACAAAAAGAAAG	0.363												
GXYLT1	283464	broad.mit.edu	37	12	42491722	42491722	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:42491721_42491721GA>G	uc001rms.4	-	5	1204	c.979_979TC>C	c.(979-981)catfs	p.H327fs	GXYLT1_uc001rmt.4_Frame_Shift_Del_p.H296fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	327					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CCTGGATTATGAAAAAACACG	0.294												
GALNT6	11226	broad.mit.edu	37	12	51771119	51771119	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:51771118_51771118TG>T	uc001ryk.2	-	2	750	c.525_525CA>A	c.(523-525)ccafs	p.P175fs	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Frame_Shift_Del_p.P175fs	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	175					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGTGGCCAGTGGGGGGCAGC	0.597												
R3HDM2	22864	broad.mit.edu	37	12	57648750	57648750	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:57648749_57648749TC>T	uc009zpm.1	-	21	2773	c.2738_2738GA>A	c.(2737-2739)gacfs	p.D913fs	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Frame_Shift_Del_p.D608fs|R3HDM2_uc001snr.2_Frame_Shift_Del_p.D640fs|R3HDM2_uc001sns.2_Frame_Shift_Del_p.D913fs|R3HDM2_uc001snt.2_Frame_Shift_Del_p.D927fs	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	913						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCCACTGTTGTCCCCCCCACC	0.632												
LRRIQ1	84125	broad.mit.edu	37	12	85450035	85450036	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:85450034_85450035C>CA	uc001tac.3	+	7	1574_1575	c.1463_1464C>CA	c.(1462-1464)gcafs	p.A488fs	LRRIQ1_uc021rbo.1_Frame_Shift_Ins_p.A366fs|LRRIQ1_uc001taa.1_Frame_Shift_Ins_p.A463fs	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	488										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAAACCTAGCAAAAAAACGAT	0.277												
APPL2	55198	broad.mit.edu	37	12	105570797	105570797	+	Splice_Site	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:105570796_105570796TG>T	uc010swu.1	-	19	1908	c.1690_splice	c.e19-1	p.F564_splice	APPL2_uc010swt.2_Splice_Site_p.F515_splice|APPL2_uc001tlf.1_Splice_Site_p.F558_splice|APPL2_uc001tlg.1_Splice_Site_p.F312_splice	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	558	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAGTTCAAACTGGGGGGTGGA	0.398												
TCHP	84260	broad.mit.edu	37	12	110344435	110344435	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:110344434_110344434GA>G	uc001tpn.3	+	4	667	c.514_514GA>G	c.(514-516)gaafs	p.E172fs	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Frame_Shift_Del_p.E172fs	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	172	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GCAGAAAGAAGAAAAAAAACA	0.478												
RASAL1	8437	broad.mit.edu	37	12	113565943	113565943	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:113565942_113565942TC>T	uc001tun.2	-	3	465	c.164_164GA>A	c.(163-165)gagfs	p.E55fs	RASAL1_uc010syp.2_Frame_Shift_Del_p.E55fs|RASAL1_uc001tul.3_Frame_Shift_Del_p.E55fs|RASAL1_uc001tum.2_Frame_Shift_Del_p.E55fs|RASAL1_uc010syq.2_Frame_Shift_Del_p.E55fs|RASAL1_uc001tuo.4_Frame_Shift_Del_p.E55fs|RASAL1_uc010syr.2_Frame_Shift_Del_p.E55fs	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	55	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGTGTACTCCTCCCCCCAGAA	0.617												
MED13L	23389	broad.mit.edu	37	12	116429071	116429073	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:116429070_116429072TGGA>T	uc001tvw.3	-	16	3742_3744	c.3687_3689TCCA>A	c.(3685-3690)ctccag>ctAg	p.Q1230del		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1230					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTGTTGATTCTGGAGGAGGAGGA	0.493												
PLA2G1B	5319	broad.mit.edu	37	12	120763700	120763701	+	Frame_Shift_Ins	INS	-	-	A	rs78096484		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr12:120763699_120763700C>CA	uc001tyd.3	-	1	194_195	c.158_159G>TG	c.(157-159)ttgfs	p.L53fs	PLA2G1B_uc009zwx.3_Frame_Shift_Ins_p.L53fs	NM_000928	NP_000919	P04054	PA21B_HUMAN	Homo sapiens phospholipase A2, group IB (pancreas) (PLA2G1B), mRNA.	53					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of DNA replication|positive regulation of NF-kappaB transcription factor activity|positive regulation of calcium ion transport into cytosol|positive regulation of immune response|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGAGCCCCCCAAGCCACAGTA	0.614											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LATS2	26524	broad.mit.edu	37	13	21563349	21563349	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:21563348_21563348AG>A	uc009zzs.3	-	3	936	c.571_571CT>T	c.(571-573)tacfs	p.Y191fs	LATS2_uc001unr.4_Frame_Shift_Del_p.Y191fs	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	191					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGGCCCTCGTAGGGGGTACCG	0.682												
FREM2	341640	broad.mit.edu	37	13	39266589	39266590	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:39266588_39266589G>GC	uc001uwv.3	+	0	5416_5417	c.5107_5108G>GC	c.(5107-5109)gccfs	p.A1703fs		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1703					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CGTGACAGAGGCCCCTCAACAT	0.431												
PCDH9	5101	broad.mit.edu	37	13	67801071	67801071	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:67801070_67801070AT>A	uc001vik.3	-	1	2195	c.1503_1503AT>T	c.(1501-1503)aatfs	p.N501fs	PCDH9_uc001vil.3_Frame_Shift_Del_p.N501fs|PCDH9_uc010thl.2_Frame_Shift_Del_p.N501fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.N501fs	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	501	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CAATGTCTGCATTTTTCCCAC	0.423												
NALCN	259232	broad.mit.edu	37	13	101997732	101997733	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:101997731_101997732A>AGT	uc001vox.1	-	6	873_874	c.684_685T>ACT	c.(682-687)cactgcfs	p.H228fs	NALCN_uc001voy.3_5'UTR|NALCN_uc001voz.2_Frame_Shift_Ins_p.H228fs|NALCN_uc001vpa.2_Frame_Shift_Ins_p.H228fs	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	228						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTGGTGAGCAGTGTGTGTCTG	0.431												
FAM155A	728215	broad.mit.edu	37	13	108518338	108518339	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr13:108518337_108518338T>TC	uc001vql.3	-	0	1123_1124	c.607_608A>GA	c.(607-609)gacfs	p.D203fs		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	203						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCTGCCCGTCCCCCCCGGCC	0.609												
SALL2	6297	broad.mit.edu	37	14	21993380	21993380	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:21993379_21993379AG>A	uc001wbe.3	-	1	765	c.483_483CT>T	c.(481-483)cctfs	p.P161fs	SALL2_uc010tly.2_Frame_Shift_Del_p.P159fs|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	161	Poly-Pro.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GTGGAGGAGGAGGGGGTGCAG	0.657												
STRN3	29966	broad.mit.edu	37	14	31398423	31398424	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:31398422_31398423T>TC	uc001wqu.2	-	7	1299_1300	c.1083_1084A>GA	c.(1081-1086)gggaagfs	p.G361fs	STRN3_uc001wqv.2_Intron|STRN3_uc010tpj.1_Intron	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	361					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACCCCTTTCTTCCCCTTTCGTT	0.366												
C14orf37	145407	broad.mit.edu	37	14	58598353	58598354	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:58598352_58598353T>TC	uc010tro.2	-	4	2020_2021	c.1822_1823A>GA	c.(1822-1824)gaafs	p.E608fs	C14orf37_uc001xdc.3_Frame_Shift_Ins_p.E570fs|C14orf37_uc001xdd.3_Frame_Shift_Ins_p.E570fs|C14orf37_uc001xde.3_Frame_Shift_Ins_p.E570fs	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	570	Glu-rich.					integral to membrane	binding	p.E570K(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AATGCTGGGTTCCCCCACCATT	0.495												
C14orf43	91748	broad.mit.edu	37	14	74206606	74206606	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:74206605_74206605TG>T	uc010tud.1	-	0	354	c.107_107CA>A	c.(106-108)cagfs	p.Q36fs	C14orf43_uc001xot.3_Frame_Shift_Del_p.Q36fs|C14orf43_uc001xou.3_Frame_Shift_Del_p.Q36fs|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GATGGACTGCTGGGGGGGCTG	0.667												
TTC8	123016	broad.mit.edu	37	14	89338724	89338725	+	In_Frame_Ins	INS	-	-	CAA			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:89338723_89338724T>TCAA	uc010ath.3	+	12	1456_1457	c.1322_1323T>TCAA	c.(1321-1323)gtc>gTCAA	p.V441V	TTC8_uc001xxi.3_In_Frame_Ins_p.V425V|TTC8_uc001xxj.3_In_Frame_Ins_p.V415V|TTC8_uc001xxk.3_In_Frame_Ins_p.V385V|TTC8_uc001xxl.3_In_Frame_Ins_p.V186V|TTC8_uc010ati.3_In_Frame_Ins_p.V227V|TTC8_uc010atj.3_In_Frame_Ins_p.V160V	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	451					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CTGGCTCTGGTCAACAACAACA	0.540												
BTBD7	55727	broad.mit.edu	37	14	93709221	93709222	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:93709220_93709221G>GT	uc001ybo.3	-	10	3123_3124	c.2797_2798C>AC	c.(2797-2799)acafs	p.T933fs	BTBD7_uc010aur.3_Frame_Shift_Ins_p.T458fs|BTBD7_uc010two.2_Frame_Shift_Ins_p.T753fs|BTBD7_uc001ybp.3_Frame_Shift_Ins_p.T582fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	933										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)		TCTGGTGTCTGTTTTTTGCTCT	0.485												
BTBD7	55727	broad.mit.edu	37	14	93720048	93720049	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:93720047_93720048A>AT	uc001ybo.3	-	6	2023_2024	c.1697_1698T>AT	c.(1696-1698)aatfs	p.N566fs	BTBD7_uc010aur.3_Frame_Shift_Ins_p.N91fs|BTBD7_uc010two.2_Frame_Shift_Ins_p.N386fs|BTBD7_uc001ybp.3_Frame_Shift_Ins_p.N215fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	566										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)		AGATGCCAGCATTTTTTTGCCG	0.386												
RTL1	388015	broad.mit.edu	37	14	101350949	101350949	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr14:101350948_101350948TG>T	uc010txj.1	-	0	237	c.178_178CA>A	c.(178-180)agtfs	p.S60fs	MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	60										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGTGGGCCACTGGGGGGCTCC	0.627												
LCMT2	9836	broad.mit.edu	37	15	43621352	43621352	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:43621351_43621351AC>A	uc001zrg.3	-	0	1470	c.1337_1337GT>T	c.(1336-1338)gttfs	p.V446fs	ADAL_uc001zrh.3_5'Flank|ADAL_uc010udo.2_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	Homo sapiens leucine carboxyl methyltransferase 2 (LCMT2), mRNA.	446					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AAGCTGGAGAACCCCCAAGGC	0.483												
HERC1	8925	broad.mit.edu	37	15	63970298	63970300	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:63970297_63970299TCTC>T	uc002amp.3	-	36	6963_6965	c.6815_6817GAGA>A	c.(6814-6819)gagaag>gAag	p.K2273del		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2273					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTGCTCTCCTTCTCCTCTCTCAT	0.468												
MAN2C1	4123	broad.mit.edu	37	15	75651720	75651720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr15:75651719_75651719TG>T	uc002bah.3	-	16	2026	c.2009_2009CA>A	c.(2008-2010)cacfs	p.H670fs	MAN2C1_uc010bkk.3_Frame_Shift_Del_p.T567fs|MAN2C1_uc002baf.3_Frame_Shift_Del_p.T666fs|MAN2C1_uc002bag.3_Frame_Shift_Del_p.T666fs			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	656					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGCAGTGAGGTGGGGGGAGGA	0.617												
PTX4	390667	broad.mit.edu	37	16	1536186	1536186	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:1536185_1536185CG>C	uc010uvf.2	-	2	1177	c.1177_1177CG>G	c.(1177-1179)ggafs	p.G393fs		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	398	Pentaxin.					extracellular region	metal ion binding	p.G393fs*57(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AGGGACCCTCCGGGGGGGATC	0.662												
TMC5	79838	broad.mit.edu	37	16	19451796	19451797	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:19451795_19451796CTA>C	uc002dgc.4	+	2	1184_1185	c.435_436CTA>C	c.(433-438)aactatfs	p.N145fs	TMC5_uc010vaq.2_Frame_Shift_Del_p.N145fs|TMC5_uc002dgb.4_Frame_Shift_Del_p.N145fs|TMC5_uc010var.2_Frame_Shift_Del_p.N145fs	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	145						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGTGGAAACTATGCAGGCTC	0.500												
GPR139	124274	broad.mit.edu	37	16	20043389	20043389	+	Frame_Shift_Del	DEL	G	G	-	rs140063049	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:20043388_20043388CG>C	uc002dgu.1	-	1	893	c.731_731CG>G	c.(730-732)cgcfs	p.R244fs	GPR139_uc010vaw.1_Frame_Shift_Del_p.R151fs	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	244						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CATGATGATGCGGGGGGCCCA	0.542												
ATXN2L	11273	broad.mit.edu	37	16	28847350	28847350	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:28847349_28847349TG>T	uc002dqy.3	+	21	3158	c.2991_2991TG>T	c.(2989-2991)catfs	p.H997fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002dra.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drb.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drc.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc010vdb.2_Frame_Shift_Del_p.H1003fs|ATXN2L_uc002dre.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drf.3_Frame_Shift_Del_p.H406fs|ATXN2L_uc002drg.3_Frame_Shift_Del_p.H280fs	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	997						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCAGAGTCATGGGGGGCCCC	0.687												
CNGB1	1258	broad.mit.edu	37	16	57938728	57938728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:57938727_57938727GC>G	uc002emt.2	-	25	2610	c.2545_2545GC>C	c.(2545-2547)ctgfs	p.L849fs	CNGB1_uc010cdh.2_Frame_Shift_Del_p.L843fs	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	849					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGTCAGGCAGCCCCCCGATG	0.507												
CDH8	1006	broad.mit.edu	37	16	61747819	61747819	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:61747818_61747818GT>G	uc002eog.2	-	9	2536	c.1581_1581AC>C	c.(1579-1581)aacfs	p.N527fs		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	527	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AATAATGTCCGTTTTTGGGAT	0.378												
CDH16	1014	broad.mit.edu	37	16	66945906	66945906	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:66945905_66945905TG>T	uc002eql.3	-	12	1881	c.1687_1687CA>A	c.(1687-1689)aagfs	p.K563fs	CDH16_uc010cdy.3_Frame_Shift_Del_p.K563fs|CDH16_uc021tjx.1_Frame_Shift_Del_p.K563fs|CDH16_uc002eqm.3_Frame_Shift_Del_p.K466fs	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	563	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGGTCCAACTTGGGGGGTGGC	0.662												
CDH16	1014	broad.mit.edu	37	16	66947519	66947520	+	Splice_Site	INS	-	-	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:66947518_66947519T>TG	uc002eql.3	-	8	975	c.781_splice	c.e8-1	p.V261_splice	CDH16_uc010cdy.3_Splice_Site_p.V261_splice|CDH16_uc021tjx.1_Splice_Site_p.V261_splice|CDH16_uc002eqm.3_Splice_Site_p.V164_splice	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	261	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCAGTGTACCTGGGGGGGACAC	0.594												
CTCF	10664	broad.mit.edu	37	16	67645339	67645340	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:67645338_67645339C>CA	uc002etl.3	+	2	1047_1048	c.603_604C>CA	c.(601-606)gccaaafs	p.A201fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	201					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCACCAGCCAAAAAAACAAA	0.475												
ZNF23	7571	broad.mit.edu	37	16	71483562	71483562	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:71483561_71483561TA>T	uc002faf.3	-	5	1181	c.367_367TA>A	c.(367-369)agtfs	p.S123fs	ZNF23_uc002fah.3_Frame_Shift_Del_p.S123fs|ZNF23_uc002fad.3_Frame_Shift_Del_p.S65fs|ZNF23_uc010vmf.2_Frame_Shift_Del_p.S65fs|ZNF23_uc002fag.3_Frame_Shift_Del_p.S65fs|ZNF23_uc002fai.3_Frame_Shift_Del_p.S162fs	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GAACTTTGACTAAAAAAACAC	0.443												
ADAMTS18	170692	broad.mit.edu	37	16	77328874	77328875	+	Frame_Shift_Ins	INS	-	-	T	rs141256982		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr16:77328873_77328874C>CT	uc002ffc.4	-	18	3371_3372	c.2952_2953G>AG	c.(2950-2955)caagccfs	p.Q984fs	ADAMTS18_uc010chc.1_Frame_Shift_Ins_p.Q572fs	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	984	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTGTTGCAGGCTTGGACCTGAG	0.535												
C17orf85	55421	broad.mit.edu	37	17	3721788	3721790	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:3721787_3721789GTCT>G	uc010ckl.1	-	9	1101_1103	c.1078_1080AGAC>C	c.(1078-1080)gac>C	p.D360del	C17orf85_uc002fwr.2_In_Frame_Del_p.D70del|C17orf85_uc002fwq.2_In_Frame_Del_p.D80del	NM_001114118	NP_061023	Q53F19	CQ085_HUMAN	Homo sapiens chromosome 17 open reading frame 85 (C17orf85), mRNA.	360	Glu-rich.						nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		CCATGTCCTGGtcttcttcttcc	0.547												
ZZEF1	23140	broad.mit.edu	37	17	4009068	4009069	+	Frame_Shift_Ins	INS	-	-	GA	rs76562422	by1000genomes	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:4009067_4009068T>TGA	uc002fxe.3	-	6	1377_1378	c.1313_1314A>TCA	c.(1312-1314)tcafs	p.S438fs	ZZEF1_uc002fxk.1_Frame_Shift_Ins_p.S438fs	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	438							calcium ion binding|zinc ion binding	p.S438T(1)		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						TAGATCCTGGTGAGAGAGAGAG	0.421												
GP1BA	2811	broad.mit.edu	37	17	4837373	4837374	+	RNA	INS	-	-	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:4837372_4837373C>CA	uc021toc.1	-	0		c.484_485G>TG			GP1BA_uc021tnz.1_Frame_Shift_Ins_p.T491fs|GP1BA_uc021toa.1_5'Flank|GP1BA_uc021tob.1_Frame_Shift_Ins_p.T491fs			E7ES66	E7ES66_HUMAN	Synthetic construct clone IMAGE:100003573; FLH167768.01X; RZPDo839F0190D glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, encodes complete protein.									p.T494fs*59(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TAGAATCCACCAAAAAAACCAT	0.500												
ALDH3A1	218	broad.mit.edu	37	17	19641649	19641649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:19641648_19641648CG>C	uc002gwk.3	-	7	1949	c.1686_1686CG>G	c.(1684-1686)ccgfs	p.P562fs	ALDH3A1_uc010cqu.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010vzd.2_Frame_Shift_Del_p.P445fs|ALDH3A1_uc002gwj.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010cqv.3_Frame_Shift_Del_p.P444fs|ALDH3A1_uc002gwl.1_Frame_Shift_Del_p.P372fs			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	445					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TGGCCGGGCTCGGGGGGTATC	0.627												
NUFIP2	57532	broad.mit.edu	37	17	27614342	27614342	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:27614341_27614341CT>C	uc002hdy.4	-	1	760	c.671_671AG>G	c.(670-672)aggfs	p.R224fs	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	224						nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CCTAGCTTTCCTTTTTTTAGG	0.383												
NF1	4763	broad.mit.edu	37	17	29553478	29553479	+	Frame_Shift_Ins	INS	-	-	C	rs145092683		TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:29553477_29553478A>AC	uc002hgg.3	+	17	2409_2410	c.2026_2027A>AC	c.(2026-2028)accfs	p.T676fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.T676fs|NF1_uc010csn.2_Frame_Shift_Ins_p.T536fs|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	676					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.P678fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCAGCGGAACCCCCCCGATT	0.460			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
ACSF2	80221	broad.mit.edu	37	17	48551138	48551139	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:48551137_48551138T>TCA	uc010wmm.1	+	13	1766_1767	c.1662_1663T>TCA	c.(1660-1665)tttcacfs	p.F554fs	ACSF2_uc002iqu.2_Frame_Shift_Ins_p.F529fs|ACSF2_uc010wml.1_Frame_Shift_Ins_p.F486fs|ACSF2_uc010wmn.1_Frame_Shift_Ins_p.F516fs|ACSF2_uc010wmo.1_Frame_Shift_Ins_p.F369fs|ACSF2_uc010dbt.1_Frame_Shift_Ins_p.F33fs	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	529					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGGACTTCTTTCACACACACCC	0.525												
TOM1L1	10040	broad.mit.edu	37	17	52990096	52990097	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:52990095_52990096TAA>T	uc002iud.2	+	3	466_467	c.291_292TAA>T	c.(289-294)gttaaafs	p.V97fs	TOM1L1_uc002iub.3_Frame_Shift_Del_p.V62fs|TOM1L1_uc002iuc.3_Frame_Shift_Del_p.V97fs|TOM1L1_uc010dca.1_Frame_Shift_Del_p.V97fs|TOM1L1_uc010wnb.1_Frame_Shift_Del_p.V90fs|TOM1L1_uc010wnc.1_Frame_Shift_Del_p.V20fs|TOM1L1_uc010dbz.2_Frame_Shift_Del_p.V20fs|TOM1L1_uc010wnd.1_Frame_Shift_Del_p.V20fs|TOM1L1_uc010dcb.1_5'Flank	NM_005486	NP_005477	O75674	TM1L1_HUMAN	Homo sapiens target of myb1 (chicken)-like 1 (TOM1L1), mRNA.	97	VHS.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	Golgi stack|cytosol|endosome membrane|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						AGGAATTTGTTAAAGAGAATTT	0.317												
BZRAP1	9256	broad.mit.edu	37	17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	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												
CLTC	1213	broad.mit.edu	37	17	57763113	57763115	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:57763112_57763114TATC>T	uc002ixr.1	+	29	5225_5227	c.4782_4784TATC>T	c.(4780-4785)aatatc>aaTc	p.I1595del	CLTC_uc002ixp.3_In_Frame_Del_p.I1591del|CLTC_uc002ixq.1_In_Frame_Del_p.I1591del	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	1591	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	p.A1595V(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGAGGCACAATATCATGGATTTT	0.409			T	"""ALK, TFE3"""	"""ALCL, renal """							
BPTF	2186	broad.mit.edu	37	17	65871139	65871139	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:65871138_65871138TA>T	uc002jgf.3	+	4	1925	c.1864_splice	c.e4+2	p.V622_splice	BPTF_uc002jge.3_Splice_Site_p.E622_splice|BPTF_uc010wqm.1_Splice_Site_p.E622_splice	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	748					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	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)			AATCTGAGGGTAAAAAAATTA	0.338												
RNF213	57674	broad.mit.edu	37	17	78261868	78261869	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:78261867_78261868G>GC	uc002jyh.2	+	4	805_806	c.662_663G>GC	c.(661-663)agcfs	p.S221fs	RNF213_uc002jyf.3_Frame_Shift_Ins_p.S172fs|RNF213_uc021uen.1_Frame_Shift_Ins_p.S172fs|RNF213_uc002jyg.1_5'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	172										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTTGGCGACAGCCCCCTGCAGG	0.698												
HEXDC	284004	broad.mit.edu	37	17	80400298	80400299	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:80400297_80400298T>TG	uc002kev.4	+	11	2003_2004	c.1587_1588T>TG	c.(1585-1590)gctgggfs	p.A529fs	HEXDC_uc002kew.3_3'UTR|HEXDC_uc010wvm.2_Non-coding_Transcript	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	89					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGCTGGAGGCTGGGGGGGCTCT	0.693												
METRNL	284207	broad.mit.edu	37	17	81043008	81043009	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr17:81043007_81043008G>GA	uc002kgh.3	+	1	489_490	c.364_365G>GA	c.(364-366)gaafs	p.E122fs	METRNL_uc002kgi.3_Frame_Shift_Ins_p.E40fs	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.	122						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TATTTATTTGGAAAAAACTGGA	0.614												
PTPN2	5771	broad.mit.edu	37	18	12817367	12817367	+	Splice_Site	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr18:12817366_12817366TA>T	uc002krp.3	-	6	690	c.496_splice	c.e6-1	p.S166_splice	PTPN2_uc002krn.3_Splice_Site_p.S189_splice|PTPN2_uc002krl.3_Splice_Site_p.S166_splice|PTPN2_uc002krm.3_Splice_Site_p.S166_splice	NM_002828	NP_002819	P17706	PTN2_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA.	166	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				TTCACCACTCTAAAAAGTGAA	0.308												
FBN3	84467	broad.mit.edu	37	19	8196625	8196625	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:8196624_8196624GC>G	uc002mjf.3	-	13	1821	c.1804_1804GC>C	c.(1804-1806)ctgfs	p.L602fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	602	EGF-like 7; 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						CCTACCGCCAGCCCCCCCAGG	0.677												
CARM1	10498	broad.mit.edu	37	19	11015634	11015635	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:11015633_11015634A>ATG	uc002mpz.3	+	1	353_354	c.227_228A>ATG	c.(226-228)gatfs	p.D76fs	CARM1_uc010dxn.3_Non-coding_Transcript	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	76					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GTAGATGAAGATGTGTGTGTCT	0.589												
ZNF878	729747	broad.mit.edu	37	19	12155894	12155895	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:12155893_12155894C>CCA	uc021upl.1	-	3	488_489	c.322_323G>TGG	c.(322-324)ggafs	p.G108fs	ZNF878_uc002mta.1_Frame_Shift_Ins_p.G155fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GCCGATTTCTCCACACACACTG	0.426												
PKN1	5585	broad.mit.edu	37	19	14562741	14562741	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:14562740_14562740GC>G	uc002myp.3	+	6	1238	c.1070_1070GC>G	c.(1069-1071)cgcfs	p.R357fs	PKN1_uc002myq.3_Frame_Shift_Del_p.R363fs	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	357	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CCAGACAGCCGCCCCCCCTTC	0.672												
OR7C1	26664	broad.mit.edu	37	19	14910414	14910414	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:14910413_14910413CA>C	uc010xnz.2	-	0	536	c.536_536TG>G	c.(535-537)tgtfs	p.C179fs		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	179					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.C179fs*7(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAGTAGATCACAAAAAAAGTG	0.478												
UBA52	7311	broad.mit.edu	37	19	18684544	18684546	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:18684543_18684545TACA>T	uc002njr.3	+	2	289_291	c.175_177TACA>T	c.(175-177)tac>T	p.Y59del	UBA52_uc002njs.3_In_Frame_Del_p.Y59del|UBA52_uc021uqs.1_5'Flank	NM_001033930	NP_003324	P62987	RL40_HUMAN	Homo sapiens ubiquitin A-52 residue ribosomal protein fusion product 1 (UBA52), transcript variant 1, mRNA.	59	Ubiquitin-like.				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|endocrine pancreas development|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|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						TCTCTCAGACTACAACATCCAGA	0.596												
DMKN	93099	broad.mit.edu	37	19	35989795	35989796	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:35989794_35989795T>TC	uc002nzm.4	-	13	1547_1548	c.1364_1365A>GA	c.(1363-1365)ggafs	p.G455fs	DMKN_uc002nzi.4_Frame_Shift_Ins_p.G69fs|DMKN_uc002nzj.3_Frame_Shift_Ins_p.G143fs|DMKN_uc002nzl.4_Frame_Shift_Ins_p.G168fs|DMKN_uc002nzk.4_Frame_Shift_Ins_p.G116fs|DMKN_uc002nzo.4_Frame_Shift_Ins_p.G444fs|DMKN_uc002nzn.4_Frame_Shift_Ins_p.G428fs|DMKN_uc002nzu.2_Frame_Shift_Ins_p.G116fs|DMKN_uc002nzv.2_Frame_Shift_Ins_p.G102fs|DMKN_uc002nzw.2_Frame_Shift_Ins_p.G125fs|DMKN_uc002nzq.2_Frame_Shift_Ins_p.G131fs|DMKN_uc002nzp.2_Frame_Shift_Ins_p.G149fs|DMKN_uc002nzr.2_Frame_Shift_Ins_p.G111fs|DMKN_uc002nzs.2_Frame_Shift_Ins_p.G102fs|DMKN_uc002nzt.2_Frame_Shift_Ins_p.G102fs	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	455						extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAGGTGAGACTCCCCCCTGCAA	0.594												
PTOV1	53635	broad.mit.edu	37	19	50363527	50363527	+	Splice_Site	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr19:50363526_50363526TG>T	uc002pqf.1	+	12	1410	c.1240_splice	c.e12-1	p.M414_splice	PTOV1_uc002pqb.4_Splice_Site_p.G358_splice|PTOV1_uc002pqa.3_Splice_Site|PTOV1_uc002pqd.3_Splice_Site|PTOV1_uc002pqe.2_Splice_Site	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.	414	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCGCCGTAGATGGGGGGGTAG	0.657												
DEFB128	245939	broad.mit.edu	37	20	168740	168741	+	Frame_Shift_Ins	INS	-	-	T	rs116794501	byFrequency	TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:168739_168740A>AT	uc002wcz.1	-	1	69_70	c.69_70T>AT	c.(67-72)aaatgcfs	p.K23fs		NM_001037732	NP_001032821	Q7Z7B8	DB128_HUMAN	Homo sapiens defensin, beta 128 (DEFB128), mRNA.	23					defense response to bacterium	extracellular region		p.R20fs*4(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TTATTGAAGCATTTTTTGAGTC	0.411												
ACSS2	55902	broad.mit.edu	37	20	33501911	33501912	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr20:33501910_33501911A>AG	uc010gey.2	+	5	776_777	c.655_656A>AG	c.(655-657)aggfs	p.R219fs	ACSS2_uc002xbc.2_Frame_Shift_Ins_p.R124fs|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Frame_Shift_Ins_p.R219fs|ACSS2_uc002xbe.2_Intron	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	219					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCCTTCTACAGGGGGGAAAAG	0.545												
C21orf59	56683	broad.mit.edu	37	21	33982209	33982209	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:33982208_33982208AT>A	uc002ypy.2	-	1	612	c.247_247AT>T	c.(247-249)tgcfs	p.C83fs	C21orf59_uc002ypx.1_5'Flank|C21orf59_uc002ypz.2_Frame_Shift_Del_p.C83fs|C21orf59_uc002yqc.3_Frame_Shift_Del_p.C83fs|C21orf59_uc010glx.3_Frame_Shift_Del_p.N6fs|C21orf59_uc002yqb.4_Frame_Shift_Del_p.C83fs|C21orf59_uc011adr.2_Intron	NM_021254	NP_067077	P57076	CU059_HUMAN	Homo sapiens chromosome 21 open reading frame 59 (C21orf59), transcript variant 1, mRNA.	83						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						CTGGGTACGCATTTTTCACCC	0.423												
PKNOX1	5316	broad.mit.edu	37	21	44448885	44448885	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:44448884_44448884GA>G	uc002zcq.1	+	9	1187	c.999_999GA>G	c.(997-999)aagfs	p.K333fs	PKNOX1_uc002zcp.1_Frame_Shift_Del_p.K333fs|PKNOX1_uc011aex.1_Frame_Shift_Del_p.K216fs	NM_004571	NP_004562	P55347	PKNX1_HUMAN	Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.	333							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CCAAAACAAAGAAAAAAACTG	0.488												
ADARB1	104	broad.mit.edu	37	21	46642058	46642058	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr21:46642057_46642057TG>T	uc002zgy.2	+	11	2606	c.2171_2171TG>T	c.(2170-2172)ctgfs	p.L724fs	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Intron|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Frame_Shift_Del_p.L684fs|ADARB1_uc010gpx.2_Non-coding_Transcript|ADARB1_uc002zgr.2_Intron|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	724	A to I editase.				RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		AAGGCGGGGCTGGGGGCCTGG	0.637												
TPST2	8459	broad.mit.edu	37	22	26932299	26932299	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:26932298_26932298TG>T	uc003acw.3	-	3	1338	c.997_997CA>A	c.(997-999)aacfs	p.N333fs	TPST2_uc003acx.3_Frame_Shift_Del_p.N333fs	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	333					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TTGCCATAGTTGGGGGGGTTT	0.582												
THOC5	8563	broad.mit.edu	37	22	29945113	29945113	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:29945112_29945112GT>G	uc003afr.3	-	2	360	c.25_25AC>C	c.(25-27)cggfs	p.R9fs	THOC5_uc003afs.3_Frame_Shift_Del_p.R9fs|THOC5_uc003aft.3_Frame_Shift_Del_p.R9fs|THOC5_uc003afu.3_Frame_Shift_Del_p.R9fs|THOC5_uc003afv.1_Frame_Shift_Del_p.R9fs	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	9	Interaction with CSF1R (By similarity).|Interaction with THOC7.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis	THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton	RNA binding|protein binding	p.R9G(2)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGGGCTTCCGTTTTTTGCTC	0.478												
TOB2	10766	broad.mit.edu	37	22	41832766	41832766	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chr22:41832765_41832765GC>G	uc003azz.1	-	1	1292	c.585_585GC>C	c.(583-585)ggcfs	p.G195fs	TOB2_uc021wqf.1_Frame_Shift_Del_p.G195fs	NM_016272	NP_057356	Q14106	TOB2_HUMAN	Homo sapiens transducer of ERBB2, 2 (TOB2), mRNA.	195					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		p.G195fs*9(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TTGCTGCCCCGCCCCCCTTCT	0.652												
CNKSR2	22866	broad.mit.edu	37	X	21609256	21609257	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:21609255_21609256G>GA	uc004czx.2	+	14	2253_2254	c.1773_1774G>GA	c.(1771-1776)tggaaafs	p.W591fs	CNKSR2_uc004czw.3_Frame_Shift_Ins_p.W591fs|CNKSR2_uc011mjn.2_Frame_Shift_Ins_p.W542fs|CNKSR2_uc011mjo.2_Frame_Shift_Ins_p.W561fs|CNKSR2_uc004czy.3_Frame_Shift_Ins_p.W183fs	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	591	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding	p.W591L(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CACAGAAATGGAAAAAATATTG	0.376												
IRS4	8471	broad.mit.edu	37	X	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545												
ZNF449	203523	broad.mit.edu	37	X	134494268	134494269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8372-01A-11D-2340-08	TCGA-BR-8372-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c609ffd-aec9-4d54-8cca-ef445e176dfd	b8ec033b-f6fc-41f5-a02b-82e786b0afe3	g.chrX:134494267_134494268A>AC	uc004eys.3	+	4	988_989	c.823_824A>AC	c.(823-825)accfs	p.T275fs	ZNF449_uc004eyt.3_Frame_Shift_Ins_p.T155fs|ZNF449_uc004eyu.3_Frame_Shift_Ins_p.T81fs	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	Homo sapiens zinc finger protein 449 (ZNF449), mRNA.	275					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATGGGAAACCCCCCCAGAG	0.436												
