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
CPSF3L	54973	broad.mit.edu	37	1	1248900	1248900	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:1248900C>T	uc001aee.1	-	10	1088	c.1030G>A	c.(1030-1032)GAA>AAA	p.E344K	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.E350K|CPSF3L_uc009vjz.1_Missense_Mutation_p.E322K|CPSF3L_uc010nyj.1_Missense_Mutation_p.E315K|CPSF3L_uc001aeg.1_Missense_Mutation_p.E220K|CPSF3L_uc001aeh.1_Missense_Mutation_p.E243K|CPSF3L_uc001aei.1_Missense_Mutation_p.E246K|CPSF3L_uc001aej.1_Missense_Mutation_p.E171K|CPSF3L_uc001aek.1_Missense_Mutation_p.E86K	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	344						Golgi apparatus|nucleus	hydrolase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ATGTTCTTTTCGTTTCCGGCC	0.592000												
AURKAIP1	54998	broad.mit.edu	37	1	1309707	1309707	+	Silent	SNP	C	C	T	rs148649999	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:1309707C>T	uc001afb.1	-	2	281	c.171G>A	c.(169-171)CAG>CAA	p.Q57Q	AURKAIP1_uc001afc.2_Silent_p.Q57Q|AURKAIP1_uc001afd.2_Silent_p.Q57Q|AURKAIP1_uc009vkb.1_Silent_p.Q57Q	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	57					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-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;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCAGCTCCAGCTGGGCCCCCT	0.697000												
PRDM16	63976	broad.mit.edu	37	1	3328286	3328286	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:3328286G>A	uc001akf.2	+	9	1605	c.1525G>A	c.(1525-1527)GCA>ACA	p.A509T	PRDM16_uc001akc.2_Missense_Mutation_p.A509T|PRDM16_uc001akd.2_Missense_Mutation_p.A509T|PRDM16_uc001ake.2_Missense_Mutation_p.A509T|PRDM16_uc009vlh.2_Missense_Mutation_p.A210T	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	509	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CACGTTCCCCGCACTCACCCC	0.677000			T	EVI1	MDS|AML							
ARHGEF16	27237	broad.mit.edu	37	1	3386085	3386085	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:3386085G>A	uc001akg.3	+	6	1198	c.950G>A	c.(949-951)CGG>CAG	p.R317Q	ARHGEF16_uc001aki.2_Missense_Mutation_p.R29Q|ARHGEF16_uc001akj.2_Missense_Mutation_p.R29Q|ARHGEF16_uc009vli.1_5'Flank|ARHGEF16_uc010nzh.1_5'Flank	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	317	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AAGGAGCTGCGGGCGACCGTG	0.612000												
CCDC27	148870	broad.mit.edu	37	1	3669276	3669276	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:3669276C>T	uc001akv.2	+	1	312	c.231C>T	c.(229-231)GAC>GAT	p.D77D		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	77										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CCAGCCGGGACGCCCGGTGCC	0.622000												
CAMTA1	23261	broad.mit.edu	37	1	7797322	7797322	+	Missense_Mutation	SNP	C	C	T	rs149702154		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:7797322C>T	uc001aoi.2	+	15	3557	c.3350C>T	c.(3349-3351)GCG>GTG	p.A1117V	CAMTA1_uc010nzv.1_Missense_Mutation_p.A204V|CAMTA1_uc001aok.3_Missense_Mutation_p.A160V|CAMTA1_uc001aoj.2_Missense_Mutation_p.A73V	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1117	ANK 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TAGATGTGGGCGTGTGCCCTA	0.547000												
UBE4B	10277	broad.mit.edu	37	1	10190583	10190583	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:10190583C>T	uc001aqs.3	+	13	2434	c.1721C>T	c.(1720-1722)CCG>CTG	p.P574L	UBE4B_uc001aqr.3_Missense_Mutation_p.P445L|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.P29L|UBE4B_uc001aqt.1_5'Flank	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	574					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)		TTGTGGTTGCCGAAATCCTTA	0.488000												
CASZ1	54897	broad.mit.edu	37	1	10725240	10725240	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:10725240G>A	uc001aro.2	-	5	725	c.405C>T	c.(403-405)CAC>CAT	p.H135H	CASZ1_uc001arp.1_Silent_p.H135H|CASZ1_uc009vmx.2_Silent_p.H159H	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	135					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)		GCTCCTCCGCGTGGTCTTCCT	0.692000												
MIIP	60672	broad.mit.edu	37	1	12091856	12091856	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:12091856G>A	uc001ato.1	+	10	1338	c.1158G>A	c.(1156-1158)CAG>CAA	p.Q386Q		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	invasion inhibitory protein 45	386										ovary(1)	1						TCCCACGGCAGAAGCCCTGAG	0.677000												
SPEN	23013	broad.mit.edu	37	1	16263675	16263675	+	Silent	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:16263675T>C	uc001axk.1	+	12	10248	c.10044T>C	c.(10042-10044)GGT>GGC	p.G3348G	SPEN_uc010obp.1_Silent_p.G3307G	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3348	Pro-rich.				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)		CTCCTGAAGGTGAGCCCCTGC	0.642000												
CLCNKA	1187	broad.mit.edu	37	1	16358730	16358730	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:16358730G>A	uc001axu.2	+	17	1869	c.1789G>A	c.(1789-1791)GCC>ACC	p.A597T	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.A597T|CLCNKA_uc010obw.1_Missense_Mutation_p.A554T|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010oby.1_3'UTR	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	597	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CGTGCAGAGGGCCCAGCTGGT	0.642000												
CROCC	9696	broad.mit.edu	37	1	17272894	17272894	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:17272894C>T	uc001azt.2	+	16	2346	c.2277C>T	c.(2275-2277)GTC>GTT	p.V759V	CROCC_uc009voz.1_Silent_p.V522V|CROCC_uc001azu.2_Silent_p.V62V	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	759	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)		ACCGCCTTGTCGCCCAGGTAC	0.597000												
PADI3	51702	broad.mit.edu	37	1	17597402	17597402	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:17597402A>G	uc001bai.2	+	8	900	c.860A>G	c.(859-861)GAC>GGC	p.D287G		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	287					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATCTTCACTGACACTGTGGTG	0.453000												
UBR4	23352	broad.mit.edu	37	1	19441312	19441312	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:19441312C>T	uc001bbi.2	-	75	11199	c.11195G>A	c.(11194-11196)CGG>CAG	p.R3732Q	UBR4_uc001bbj.1_Missense_Mutation_p.R147Q	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3732					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)		CACCTTCTTCCGGTCTTCTTC	0.527000												
ALPL	249	broad.mit.edu	37	1	21903914	21903914	+	Missense_Mutation	SNP	C	C	T	rs138690664		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:21903914C>T	uc001bet.2	+	12	1605	c.1348C>T	c.(1348-1350)CGC>TGC	p.R450C	ALPL_uc010odn.1_Missense_Mutation_p.R398C|ALPL_uc010odo.1_Missense_Mutation_p.R395C|ALPL_uc010odp.1_Missense_Mutation_p.R373C|ALPL_uc001beu.3_Missense_Mutation_p.R450C	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	450			R -> H (in HOPS).|R -> C (in HOPS; severe; 4% of activity).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	TGTGCCCCTGCGCCACGAGAC	0.687000												
SFRS4	6429	broad.mit.edu	37	1	29475301	29475301	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:29475301C>T	uc001bro.2	-	6	1479	c.1106G>A	c.(1105-1107)CGC>CAC	p.R369H	SFRS4_uc010ofy.1_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	369	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)		gctgcggctgcgactgcgact	0.090000												
EPHA10	284656	broad.mit.edu	37	1	38227513	38227513	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:38227513G>A	uc009vvi.2	-	3	500	c.414C>T	c.(412-414)GGC>GGT	p.G138G	EPHA10_uc001cbw.3_Silent_p.G138G	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	138	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACGCCCACGGCCCAGGTCGG	0.657000												
ZNF684	127396	broad.mit.edu	37	1	41012975	41012975	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:41012975A>G	uc001cft.1	+	5	1231	c.980A>G	c.(979-981)TAC>TGC	p.Y327C		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	327	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			GAGAAACCTTACAGTTGTATT	0.423000												
HIVEP3	59269	broad.mit.edu	37	1	42049392	42049392	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:42049392C>T	uc001cgz.3	-	4	2290	c.1077G>A	c.(1075-1077)ACG>ACA	p.T359T	HIVEP3_uc001cha.3_Silent_p.T359T|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	359	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCTGCTTAATCGTGTGGGTGT	0.567000												
CDC20	991	broad.mit.edu	37	1	43825904	43825904	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:43825904C>T	uc001cix.2	+	6	698	c.597C>T	c.(595-597)GCC>GCT	p.A199A	CDC20_uc001ciy.2_Silent_p.A199A	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20	199	WD 1.				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGTACTGGCCGTGGCACTGG	0.522000												
ZSWIM5	57643	broad.mit.edu	37	1	45501386	45501386	+	Silent	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:45501386G>T	uc001cnd.2	-	10	2493	c.2265C>A	c.(2263-2265)TCC>TCA	p.S755S		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	755							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CTAATTTATAGGACAGGTCTG	0.488000												
LRRC41	10489	broad.mit.edu	37	1	46745250	46745250	+	Missense_Mutation	SNP	C	C	T	rs28363251		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:46745250C>T	uc001cpn.2	-	8	2101	c.2057G>A	c.(2056-2058)CGC>CAC	p.R686H	LRRC41_uc010omb.1_Missense_Mutation_p.R686H	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	686										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTGGGCTGGGCGCTTCTCAAA	0.557000												
RAB3B	5865	broad.mit.edu	37	1	52403066	52403066	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:52403066G>A	uc001cth.2	-	3	372	c.247C>T	c.(247-249)CGG>TGG	p.R83W		NM_002867	NP_002858	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	83					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(1)	1						GTCCGGTACCGCTCCTGCCCA	0.468000												
LDLRAD1	388633	broad.mit.edu	37	1	54476062	54476062	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:54476062G>A	uc001cwm.1	-	5	380	c.362C>T	c.(361-363)CCC>CTC	p.P121L	LDLRAD1_uc010onz.1_Missense_Mutation_p.P68S|LDLRAD1_uc010ooa.1_Missense_Mutation_p.P78L|LDLRAD1_uc009vzn.1_RNA	NM_001010978	NP_001010978	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain	121	LDL-receptor class A 2; atypical.					integral to membrane	receptor activity			skin(2)|large_intestine(1)	3						AAGGAAGTGGGGGAGGCTCTG	0.562000												
DHCR24	1718	broad.mit.edu	37	1	55337163	55337163	+	Missense_Mutation	SNP	G	G	A	rs150166147		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:55337163G>A	uc001cyc.1	-	5	865	c.736C>T	c.(736-738)CGG>TGG	p.R246W	DHCR24_uc010ooj.1_Missense_Mutation_p.R108W|DHCR24_uc010ook.1_Missense_Mutation_p.R205W	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	246					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			pancreas(1)	1						TCCAGGCCCCGCACTGGCTCG	0.612000												
PTGER3	5733	broad.mit.edu	37	1	71512689	71512689	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:71512689A>T	uc001dfg.1	-	1	803	c.572T>A	c.(571-573)CTG>CAG	p.L191Q	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.L191Q|PTGER3_uc001dfl.1_Missense_Mutation_p.L191Q|PTGER3_uc009wbm.1_Missense_Mutation_p.L191Q|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.L191Q|PTGER3_uc009wbn.1_Missense_Mutation_p.L191Q|PTGER3_uc009wbo.2_Missense_Mutation_p.L191Q|PTGER3_uc001dfo.2_Missense_Mutation_p.L191Q|PTGER3_uc001dfp.1_Missense_Mutation_p.L191Q|PTGER3_uc001dfq.2_Missense_Mutation_p.L191Q|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	191	Helical; Name=4; (Potential).				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	CAGCACCGGCAGCAGGGCGAA	0.692000												
PTGER3	5733	broad.mit.edu	37	1	71512701	71512701	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:71512701G>T	uc001dfg.1	-	1	791	c.560C>A	c.(559-561)GCC>GAC	p.A187D	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.A187D|PTGER3_uc001dfl.1_Missense_Mutation_p.A187D|PTGER3_uc009wbm.1_Missense_Mutation_p.A187D|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.A187D|PTGER3_uc009wbn.1_Missense_Mutation_p.A187D|PTGER3_uc009wbo.2_Missense_Mutation_p.A187D|PTGER3_uc001dfo.2_Missense_Mutation_p.A187D|PTGER3_uc001dfp.1_Missense_Mutation_p.A187D|PTGER3_uc001dfq.2_Missense_Mutation_p.A187D|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	187	Helical; Name=4; (Potential).				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	CAGGGCGAAGGCGAGCACGGC	0.716000												
WDR63	126820	broad.mit.edu	37	1	85592282	85592282	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:85592282G>A	uc001dkt.2	+	20	2392	c.2201G>A	c.(2200-2202)GGC>GAC	p.G734D	WDR63_uc009wcl.2_Missense_Mutation_p.G695D	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	734	WD 4.									upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTCTACATCGGCCGAGAAGAT	0.473000												
GBP1	2633	broad.mit.edu	37	1	89528741	89528741	+	Silent	SNP	A	A	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:89528741A>T	uc001dmx.2	-	2	397	c.177T>A	c.(175-177)GCT>GCA	p.A59A		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	59					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTTTCTTTCCAGCCAGCTTGT	0.498000												
NTNG1	22854	broad.mit.edu	37	1	107691423	107691423	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:107691423A>G	uc001dvh.3	+	2	926	c.208A>G	c.(208-210)ATT>GTT	p.I70V	NTNG1_uc001dvf.3_Missense_Mutation_p.I70V|NTNG1_uc010out.1_Missense_Mutation_p.I70V|NTNG1_uc001dvc.3_Missense_Mutation_p.I70V|NTNG1_uc001dvd.1_Missense_Mutation_p.I70V	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	70	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TCCTCCGGATATTACCTGTGG	0.433000												
SARS	6301	broad.mit.edu	37	1	109772189	109772189	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:109772189G>A	uc001dwu.1	+	4	517	c.442G>A	c.(442-444)GAT>AAT	p.D148N	SARS_uc001dwt.1_Missense_Mutation_p.D148N|SARS_uc001dwv.1_Missense_Mutation_p.D148N|SARS_uc001dww.1_Missense_Mutation_p.D81N|SARS_uc001dwx.1_Missense_Mutation_p.D148N|SARS_uc009wfa.1_Missense_Mutation_p.D148N|SARS_uc001dwy.1_5'UTR|SARS_uc001dwz.1_5'UTR	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	148					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CATCAGTAACGATGAGGTAGG	0.582000												
SYPL2	284612	broad.mit.edu	37	1	110020512	110020512	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:110020512G>A	uc001dxp.2	+	5	895	c.529G>A	c.(529-531)GAT>AAT	p.D177N	SYPL2_uc001dxo.2_Missense_Mutation_p.D177N|SYPL2_uc010ovk.1_Intron|SYPL2_uc001dxq.2_Missense_Mutation_p.D85N	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	mitsugumin 29	177	Vesicular (Potential).|MARVEL.					integral to membrane|synaptic vesicle	transporter activity			ovary(1)	1		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGGCCTGACCGATGTCAAGGG	0.607000												
ATXN7L2	127002	broad.mit.edu	37	1	110029769	110029769	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:110029769A>G	uc001dxr.2	+	4	454	c.439A>G	c.(439-441)AGG>GGG	p.R147G	ATXN7L2_uc001dxs.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	147										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AACCTCCTCCAGGGAGAAGGG	0.612000												
OLFML3	56944	broad.mit.edu	37	1	114522210	114522210	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:114522210C>G	uc001eer.1	+	1	181	c.72C>G	c.(70-72)CAC>CAG	p.H24Q	OLFML3_uc001ees.1_5'UTR|OLFML3_uc001eet.1_5'UTR	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3 precursor	24					multicellular organismal development	extracellular region					0	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-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)		GACAGCAGCACCACCTTGTGG	0.572000											OREG0013687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BCAS2	10286	broad.mit.edu	37	1	115123933	115123933	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:115123933T>C	uc001efa.2	-	2	226	c.173A>G	c.(172-174)TAT>TGT	p.Y58C	DENND2C_uc001eez.2_RNA	NM_005872	NP_005863	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	58					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			large_intestine(1)	1	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGGCAGAATAATCCGGGGC	0.453000												
HAO2	51179	broad.mit.edu	37	1	119925576	119925576	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:119925576A>C	uc001ehq.1	+	4	522	c.170A>C	c.(169-171)GAG>GCG	p.E57A	HAO2_uc001ehr.1_Missense_Mutation_p.E57A	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2	57	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GATGTGTCTGAGGTGGACACC	0.547000												
PDE4DIP	9659	broad.mit.edu	37	1	144912234	144912234	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:144912234G>A	uc001elw.3	-	15	2332	c.2041C>T	c.(2041-2043)CGC>TGC	p.R681C	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R747C|PDE4DIP_uc001emc.1_Missense_Mutation_p.R681C|PDE4DIP_uc001emd.1_Missense_Mutation_p.R681C|PDE4DIP_uc001emb.1_Missense_Mutation_p.R844C|PDE4DIP_uc001eme.1_Missense_Mutation_p.R210C|PDE4DIP_uc001emf.1_Missense_Mutation_p.R466C	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	681	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAATATTGGCGCAGGGCCTGT	0.443000			T	PDGFRB	MPD							
PIAS3	10401	broad.mit.edu	37	1	145578250	145578250	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:145578250G>A	uc001eoc.1	+	2	304	c.213G>A	c.(211-213)GGG>GGA	p.G71G	NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Silent_p.G62G|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	71					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGACCCTGGGGCCCTCTGATC	0.607000												
CGN	57530	broad.mit.edu	37	1	151498178	151498178	+	Silent	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:151498178A>C	uc009wmw.2	+	9	1819	c.1675A>C	c.(1675-1677)AGG>CGG	p.R559R		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	553	Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGCTGCAGAGGGAGCTGGA	0.562000												
HRNR	388697	broad.mit.edu	37	1	152191477	152191477	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:152191477G>A	uc001ezt.1	-	3	2704	c.2628C>T	c.(2626-2628)CAC>CAT	p.H876H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	876	10.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCGAAGCGTGATGGGAGG	0.612000												
FLG	2312	broad.mit.edu	37	1	152276878	152276878	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:152276878G>A	uc001ezu.1	-	3	10520	c.10484C>T	c.(10483-10485)TCA>TTA	p.S3495L		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3495	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCATCTCCTGATTGTTCGTC	0.577000									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152280586	152280586	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:152280586C>T	uc001ezu.1	-	3	6812	c.6776G>A	c.(6775-6777)CGG>CAG	p.R2259Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2259	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCAGACCGCCTCTCAGA	0.587000									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152282533	152282533	+	Missense_Mutation	SNP	C	C	T	rs148200894	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:152282533C>T	uc001ezu.1	-	3	4865	c.4829G>A	c.(4828-4830)CGG>CAG	p.R1610Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1610	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGACTCAGACCGCCTCTCAGA	0.567000									Ichthyosis			
LCE1D	353134	broad.mit.edu	37	1	152770396	152770396	+	Silent	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:152770396C>A	uc009wnp.2	+	2	169	c.126C>A	c.(124-126)GTC>GTA	p.V42V		NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	42	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm					0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCAGTGTCAGCTCCGGAG	0.562000												
NUP210L	91181	broad.mit.edu	37	1	154030659	154030659	+	Silent	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:154030659T>G	uc001fdw.2	-	22	3085	c.3013A>C	c.(3013-3015)AGG>CGG	p.R1005R	NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Silent_p.R1005R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1005				R -> K (in Ref. 1; BAC87279).		integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCAAGAACCCTCACAGTCACT	0.398000												
ZBTB7B	51043	broad.mit.edu	37	1	154988174	154988174	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:154988174G>A	uc001fgk.3	+	3	1196	c.1038G>A	c.(1036-1038)CAG>CAA	p.Q346Q	ZBTB7B_uc009wpa.2_Silent_p.Q346Q|ZBTB7B_uc001fgj.3_Silent_p.Q380Q|ZBTB7B_uc010peq.1_Silent_p.Q380Q|ZBTB7B_uc001fgl.3_Silent_p.Q346Q	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	346	C2H2-type 1.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGATGCCTCAGGAGTGCCCTG	0.622000												
MEX3A	92312	broad.mit.edu	37	1	156046750	156046750	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:156046750G>A	uc001fnd.3	-	2	1178	c.1178C>T	c.(1177-1179)GCG>GTG	p.A393V		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	393						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTCCTGGCCCGCCCACAGCGG	0.597000												
INSRR	3645	broad.mit.edu	37	1	156811544	156811544	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:156811544C>T	uc010pht.1	-	20	3694	c.3440G>A	c.(3439-3441)CGC>CAC	p.R1147H	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	1147	Cytoplasmic (Potential).|Protein kinase.				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)					CCCACCCTTGCGGTAATAGTC	0.612000												
FCRL1	115350	broad.mit.edu	37	1	157765955	157765955	+	Silent	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:157765955G>T	uc001frg.2	-	11	1337	c.1224C>A	c.(1222-1224)TCC>TCA	p.S408S	FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Silent_p.S407S|FCRL1_uc001fri.2_Missense_Mutation_p.P366H|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	408	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGATGTCTAAGGAAACCTGGA	0.448000												
CD1A	909	broad.mit.edu	37	1	158224939	158224939	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:158224939C>A	uc001frt.2	+	2	657	c.124C>A	c.(124-126)CAA>AAA	p.Q42K		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	42	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)	TTCCTGGAAACAAAATCTGGT	0.498000												
CD1A	909	broad.mit.edu	37	1	158224948	158224948	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:158224948G>A	uc001frt.2	+	2	666	c.133G>A	c.(133-135)GTC>ATC	p.V45I		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	45	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)	ACAAAATCTGGTCTCAGGTTG	0.498000												
MNDA	4332	broad.mit.edu	37	1	158813818	158813818	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:158813818C>T	uc001fsz.1	+	4	676	c.476C>T	c.(475-477)CCA>CTA	p.P159L		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	159					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					AGTAAGCCCCCAGGTCCCTCA	0.463000												
CADM3	57863	broad.mit.edu	37	1	159163671	159163671	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:159163671C>T	uc001ftl.2	+	5	674	c.532C>T	c.(532-534)CGC>TGC	p.R178C	CADM3_uc009wsy.1_Missense_Mutation_p.R178C|CADM3_uc001ftk.2_Missense_Mutation_p.R212C	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	178	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					AGAACCAACCCGCATACAGGA	0.502000												
IGSF8	93185	broad.mit.edu	37	1	160062767	160062767	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:160062767C>T	uc001fva.2	-	4	1304	c.1259G>A	c.(1258-1260)CGT>CAT	p.R420H	IGSF8_uc001fuz.2_Missense_Mutation_p.R420H|IGSF8_uc009wtf.2_Missense_Mutation_p.R420H	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	420	Ig-like C2-type 3.|Extracellular (Potential).				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCTGCTTCACGAAGCCGGGT	0.652000												
ATP1A4	480	broad.mit.edu	37	1	160121890	160121890	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:160121890A>T	uc001fve.3	+	1	539	c.60A>T	c.(58-60)AGA>AGT	p.R20S	ATP1A4_uc001fvf.3_RNA	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	20	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGACGAAGACCTAAAAAAG	0.488000												
CASQ1	844	broad.mit.edu	37	1	160165279	160165279	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:160165279G>T	uc010pja.1	+	5	863	c.606G>T	c.(604-606)GAG>GAT	p.E202D		NM_001231	NP_001222	P31415	CASQ1_HUMAN	calsequestrin 1	202						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			central_nervous_system(1)	1	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCAGCTGAGGAGTTTCATC	0.562000												
VANGL2	57216	broad.mit.edu	37	1	160390844	160390844	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:160390844A>C	uc001fwb.1	+	7	1239	c.940A>C	c.(940-942)AAC>CAC	p.N314H	VANGL2_uc001fwc.1_Missense_Mutation_p.N314H	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	314	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGTGCAGAAAACAGCACCAA	0.552000												
SLAMF7	57823	broad.mit.edu	37	1	160721212	160721212	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:160721212G>C	uc001fwq.2	+	5	862	c.847G>C	c.(847-849)GAG>CAG	p.E283Q	SLAMF7_uc010pjn.1_Missense_Mutation_p.E189Q|SLAMF7_uc001fws.2_Missense_Mutation_p.E176Q|SLAMF7_uc001fwr.2_Intron|SLAMF7_uc010pjo.1_Missense_Mutation_p.E152Q|SLAMF7_uc010pjp.1_Missense_Mutation_p.E136Q|SLAMF7_uc010pjq.1_Intron|SLAMF7_uc010pjr.1_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	283	Cytoplasmic (Potential).				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			skin(2)|ovary(1)	3	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGAGAACACAGAGTACGACAC	0.453000												
ADAMTS4	9507	broad.mit.edu	37	1	161163914	161163914	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:161163914G>A	uc001fyt.3	-	5	1787	c.1359C>T	c.(1357-1359)TTC>TTT	p.F453F		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	453	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGTCGGGCCCGAAGGTCAGCT	0.602000												
HSPA6	3310	broad.mit.edu	37	1	161495916	161495916	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:161495916G>A	uc001gap.2	+	2	2128	c.1468G>A	c.(1468-1470)GTG>ATG	p.V490M	HSPA6_uc001gaq.2_Missense_Mutation_p.V490M	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	490					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATCCTGAGCGTGACAGCCAC	0.552000												
LMX1A	4009	broad.mit.edu	37	1	165218837	165218837	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:165218837C>T	uc001gcy.1	-	3	525	c.304G>A	c.(304-306)GCT>ACT	p.A102T	LMX1A_uc001gcz.1_Missense_Mutation_p.A102T	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	102	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					TCATTGGGAGCGATGGCCTCG	0.532000												
SELE	6401	broad.mit.edu	37	1	169699580	169699580	+	Silent	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:169699580G>T	uc001ggm.3	-	5	865	c.708C>A	c.(706-708)GCC>GCA	p.A236A	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	236	Sushi 1.|Extracellular (Potential).				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)					TACCATTGCAGGCTGGAATAG	0.448000												
C1orf9	51430	broad.mit.edu	37	1	172558186	172558186	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:172558186C>T	uc001giq.3	+	18	2261	c.1945C>T	c.(1945-1947)CGA>TGA	p.R649*	C1orf9_uc010pmm.1_Nonsense_Mutation_p.R649*|C1orf9_uc009wwd.2_Nonsense_Mutation_p.R605*|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	649					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)		GCAGCGCAGCCGAACTGCTTT	0.388000												
RFWD2	64326	broad.mit.edu	37	1	176015447	176015447	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:176015447G>A	uc001gku.1	-	12	1547	c.1291C>T	c.(1291-1293)CGG>TGG	p.R431W	RFWD2_uc001gkv.1_Missense_Mutation_p.R407W|RFWD2_uc001gkw.1_Missense_Mutation_p.R191W|RFWD2_uc009wwv.2_Missense_Mutation_p.R230W|RFWD2_uc001gkt.1_Missense_Mutation_p.R270W	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	431	WD 1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						TCACAATCCCGGTCAAATTCA	0.343000												
ASTN1	460	broad.mit.edu	37	1	177001771	177001771	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:177001771C>T	uc001glc.2	-	3	898	c.686G>A	c.(685-687)GGC>GAC	p.G229D	ASTN1_uc001glb.1_Missense_Mutation_p.G229D|ASTN1_uc001gld.1_Missense_Mutation_p.G229D|ASTN1_uc009wwx.1_Missense_Mutation_p.G229D|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	229					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GCTCAGGGTGCCACTGGAGTT	0.602000												
FAM5B	57795	broad.mit.edu	37	1	177199054	177199054	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:177199054G>A	uc001glf.2	+	2	354	c.42G>A	c.(40-42)CCG>CCA	p.P14P		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	14						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GGCTTCGGCCGGCGGTGGCCC	0.667000												
GLUL	2752	broad.mit.edu	37	1	182353564	182353564	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:182353564A>G	uc001gpa.1	-	7	1310	c.1098T>C	c.(1096-1098)GAT>GAC	p.D366D	GLUL_uc010pnt.1_Silent_p.D153D|GLUL_uc001gpb.1_Silent_p.D366D|GLUL_uc001gpc.1_Silent_p.D366D|GLUL_uc001gpd.1_Silent_p.D366D	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	366					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding				0					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	GGAAGGGCTCATCGCCGGTTT	0.532000												
DHX9	1660	broad.mit.edu	37	1	182844070	182844070	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:182844070A>G	uc001gpr.2	+	16	1959	c.1796A>G	c.(1795-1797)GAT>GGT	p.D599G	DHX9_uc001gps.2_Missense_Mutation_p.D385G	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	599					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						aaggatgatgatggtggtgag	0.303000												
LAMC1	3915	broad.mit.edu	37	1	183079760	183079760	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:183079760C>T	uc001gpy.3	+	4	1249	c.992C>T	c.(991-993)GCA>GTA	p.A331V		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	331	Laminin EGF-like 1.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGAGGAGGGCAACTGCGGAA	0.483000												
PRG4	10216	broad.mit.edu	37	1	186273298	186273298	+	Silent	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:186273298T>G	uc001gru.3	+	5	429	c.378T>G	c.(376-378)TCT>TCG	p.S126S	PRG4_uc001grt.3_Silent_p.S85S|PRG4_uc009wyl.2_Intron|PRG4_uc009wym.2_Intron|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	126					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CAGGAGCATCTCAAACCATCA	0.403000												
FAM5C	339479	broad.mit.edu	37	1	190233999	190233999	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:190233999A>C	uc001gse.1	-	4	846	c.614T>G	c.(613-615)ATA>AGA	p.I205R	FAM5C_uc010pot.1_Missense_Mutation_p.I103R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	205						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TCTTACCTTTATGGCAGTGGA	0.393000												
RGS1	5996	broad.mit.edu	37	1	192548282	192548282	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:192548282C>A	uc001gsi.1	+	5	526	c.460C>A	c.(460-462)CGC>AGC	p.R154S		NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	154	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)				TATTGACTTCCGCACTCGAGA	0.333000												
ASPM	259266	broad.mit.edu	37	1	197070110	197070110	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:197070110T>A	uc001gtu.2	-	18	8528	c.8271A>T	c.(8269-8271)AAA>AAT	p.K2757N	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.K605N	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2757	IQ 31.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CATTTTTCAATTTTTGTCTAA	0.348000												
PTPRC	5788	broad.mit.edu	37	1	198701498	198701498	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:198701498C>T	uc001gur.1	+	19	2218	c.2038C>T	c.(2038-2040)CGT>TGT	p.R680C	PTPRC_uc001gus.1_Missense_Mutation_p.R632C|PTPRC_uc001gut.1_Missense_Mutation_p.R519C|PTPRC_uc009wzf.1_Missense_Mutation_p.R568C|PTPRC_uc010ppg.1_Missense_Mutation_p.R616C	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	680	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GAATAAAAACCGTTATGTTGA	0.363000												
IGFN1	91156	broad.mit.edu	37	1	201186437	201186437	+	Silent	SNP	G	G	A	rs142174046	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:201186437G>A	uc001gwc.2	+	6	1870	c.1098G>A	c.(1096-1098)GCG>GCA	p.A366A	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						CCCCTTCCGCGCCAGCCATCC	0.677000												
PLXNA2	5362	broad.mit.edu	37	1	208216456	208216456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:208216456G>A	uc001hgz.2	-	21	4725	c.3967C>T	c.(3967-3969)CGA>TGA	p.R1323*		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1323	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AACAGGACTCGCATAGCGTAG	0.602000												
TRAF3IP3	80342	broad.mit.edu	37	1	209933484	209933484	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:209933484C>A	uc001hho.2	+	3	390	c.100C>A	c.(100-102)CGC>AGC	p.R34S	TRAF3IP3_uc001hhl.2_Missense_Mutation_p.R34S|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.R34S|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.R34S|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.R34S	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	34	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TGAAAGCCGCCGCTGCCGTCC	0.627000												
C1orf107	27042	broad.mit.edu	37	1	210004282	210004282	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:210004282G>A	uc001hhr.1	+	3	358	c.282G>A	c.(280-282)GAG>GAA	p.E94E	C1orf107_uc009xcu.1_5'UTR	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	94	Glu-rich.				multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		aggaggaagaggaagaagaCA	0.338000												
KCNK2	3776	broad.mit.edu	37	1	215342563	215342563	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:215342563G>A	uc001hkq.2	+	4	666	c.497G>A	c.(496-498)CGC>CAC	p.R166H	KCNK2_uc001hko.2_Missense_Mutation_p.R162H|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.R151H	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2 isoform	166							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)	ATCTCACCACGCACAGAAGGC	0.294000												
IARS2	55699	broad.mit.edu	37	1	220311323	220311323	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:220311323G>T	uc001hmc.2	+	17	2217	c.2113G>T	c.(2113-2115)GTC>TTC	p.V705F	IARS2_uc001hmd.2_Missense_Mutation_p.V41F	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	705					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGATTCCAATGTCTTCACCGA	0.413000												
RAB3GAP2	25782	broad.mit.edu	37	1	220327384	220327384	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:220327384A>G	uc010puk.1	-	32	3735	c.3571T>C	c.(3571-3573)TTC>CTC	p.F1191L	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.F771L|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.F135L	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1191					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		AGGTCTTTGAAAAATGCATTT	0.318000												
EPHX1	2052	broad.mit.edu	37	1	226032198	226032198	+	Splice_Site	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:226032198G>A	uc001hpk.2	+	8	1121	c.1041_splice	c.e8-1	p.R347_splice	EPHX1_uc001hpl.2_Splice_Site_p.R347_splice	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1						aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)					TGCGTTCCCAGGAAGTTCTCC	0.567000												
SNAP47	116841	broad.mit.edu	37	1	227935782	227935782	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:227935782A>G	uc001hrf.2	+	2	894	c.480A>G	c.(478-480)CCA>CCG	p.P160P	SNAP47_uc001hqz.2_Silent_p.P115P|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Silent_p.P160P|SNAP47_uc001hre.2_Intron|SNAP47_uc001hrg.1_Silent_p.P115P	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	160	t-SNARE coiled-coil homology 1.					endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1						CATCTGTCCCAAGGACCCGGG	0.637000												
ARF1	375	broad.mit.edu	37	1	228285130	228285130	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:228285130G>A	uc001hrr.2	+	3	464	c.236G>A	c.(235-237)CGC>CAC	p.R79H	ARF1_uc001hrs.2_Missense_Mutation_p.R79H|ARF1_uc001hrt.2_Intron|ARF1_uc009xev.2_Intron|ARF1_uc001hru.2_Missense_Mutation_p.R79H|ARF1_uc001hrv.2_Missense_Mutation_p.R79H|ARF1_uc001hrw.2_Missense_Mutation_p.R79H	NM_001024226	NP_001019397	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	79					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity				0		Prostate(94;0.0405)				CCCCTGTGGCGCCACTACTTC	0.602000												
OBSCN	84033	broad.mit.edu	37	1	228538598	228538598	+	Missense_Mutation	SNP	G	G	A	rs151074400	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:228538598G>A	uc009xez.1	+	77	18417	c.18373G>A	c.(18373-18375)GCC>ACC	p.A6125T	OBSCN_uc001hsn.2_Missense_Mutation_p.A6125T|OBSCN_uc001hsr.1_Missense_Mutation_p.A754T|OBSCN_uc009xfa.2_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6125	Ig-like 53.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGGAGAGGACGCCCAGTTCAC	0.597000												
NUP133	55746	broad.mit.edu	37	1	229619808	229619808	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:229619808A>G	uc001htn.2	-	12	1677	c.1585T>C	c.(1585-1587)TAC>CAC	p.Y529H		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	529					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TACCTGCAGTATTGCAGAAAG	0.348000												
TRIM67	440730	broad.mit.edu	37	1	231299602	231299602	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:231299602C>T	uc009xfn.1	+	1	929	c.887C>T	c.(886-888)ACG>ATG	p.T296M		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	296						cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGGGGCAGCACGGCCCGCAAG	0.706000												
C1orf57	84284	broad.mit.edu	37	1	233105691	233105691	+	Missense_Mutation	SNP	G	G	A	rs138687966		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:233105691G>A	uc001hvj.1	+	4	418	c.331G>A	c.(331-333)GTC>ATC	p.V111I	C1orf57_uc001hvi.2_Missense_Mutation_p.V111I|C1orf57_uc009xft.1_Intron	NM_032324	NP_115700	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase C1orf57	111	ATP (Probable).						ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity				0		all_cancers(173;0.0818)|Prostate(94;0.137)				AAGAGTGTGCGTCATCGATGA	0.507000												
RYR2	6262	broad.mit.edu	37	1	237755119	237755119	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:237755119G>A	uc001hyl.1	+	32	4361	c.4241G>A	c.(4240-4242)CGG>CAG	p.R1414Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1414	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTGATGATCGGGATGACTAT	0.398000												
OR6F1	343169	broad.mit.edu	37	1	247876039	247876039	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:247876039T>C	uc001idj.1	-	1	19	c.19A>G	c.(19-21)ACT>GCT	p.T7A		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGGGGCAGAGTTTTGTTGCCT	0.448000												
IL2RA	3559	broad.mit.edu	37	10	6063591	6063591	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:6063591C>A	uc001iiz.1	-	4	592	c.433G>T	c.(433-435)GGG>TGG	p.G145W	IL2RA_uc009xih.1_Intron|IL2RA_uc001ija.1_Intron	NM_000417	NP_000408	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha chain precursor	145	Sushi 2.|Extracellular (Potential).				cell proliferation	integral to membrane	interleukin-2 receptor activity			ovary(1)|skin(1)	2					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ACCATCTGCCCCACCACGAAA	0.512000												
PRKCQ	5588	broad.mit.edu	37	10	6472782	6472782	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:6472782C>T	uc001ijj.1	-	17	2030	c.1955G>A	c.(1954-1956)CGG>CAG	p.R652Q	PRKCQ_uc009xim.1_Missense_Mutation_p.R589Q|PRKCQ_uc001iji.1_Missense_Mutation_p.R685Q|PRKCQ_uc009xin.1_Missense_Mutation_p.R616Q|PRKCQ_uc010qax.1_Missense_Mutation_p.R527Q	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	652	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						CACTTTCGGCCGGAACGGTGG	0.617000												
SFMBT2	57713	broad.mit.edu	37	10	7269822	7269822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:7269822G>A	uc009xio.1	-	10	1289	c.1198C>T	c.(1198-1200)CGA>TGA	p.R400*	SFMBT2_uc001ijn.1_Nonsense_Mutation_p.R400*|SFMBT2_uc010qay.1_Nonsense_Mutation_p.R400*	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	400	MBT 4.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CTTACATTTCGGAAGCAGAAG	0.423000												
PTER	9317	broad.mit.edu	37	10	16528558	16528558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:16528558C>T	uc001iog.1	+	4	847	c.640C>T	c.(640-642)CGA>TGA	p.R214*	PTER_uc001ioh.1_Nonsense_Mutation_p.R214*|PTER_uc001ioi.1_Nonsense_Mutation_p.R214*|PTER_uc009xjp.1_Nonsense_Mutation_p.R214*	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	214					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2						TCAGATTATCCGAATATTGCA	0.478000												
CUBN	8029	broad.mit.edu	37	10	16955916	16955916	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:16955916C>T	uc001ioo.2	-	48	7479	c.7427G>A	c.(7426-7428)CGG>CAG	p.R2476Q		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2476	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCGCAGATCCGGCCATGAGG	0.532000												
KIAA1462	57608	broad.mit.edu	37	10	30315148	30315148	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:30315148C>T	uc001iux.2	-	2	3988	c.3929G>A	c.(3928-3930)CGT>CAT	p.R1310H	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R1172H|KIAA1462_uc009xle.1_Missense_Mutation_p.R1310H	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1310										ovary(4)	4						TCTCTGGGCACGGTCCCCACT	0.612000												
MAP3K8	1326	broad.mit.edu	37	10	30739267	30739267	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:30739267C>T	uc001ivi.1	+	5	1281	c.585C>T	c.(583-585)GGC>GGT	p.G195G	MAP3K8_uc009xlf.1_Silent_p.G195G|MAP3K8_uc001ivj.1_Silent_p.G195G	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	195	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)				AGCTGTATGGCGCAGTCCTGT	0.488000												
ZNF33B	7582	broad.mit.edu	37	10	43088761	43088761	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:43088761G>A	uc001jaf.1	-	5	1752	c.1637C>T	c.(1636-1638)ACG>ATG	p.T546M	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.T434M|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	546	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCCTGTGTGCGTTCTCTGATG	0.428000												
PPYR1	5540	broad.mit.edu	37	10	47087582	47087582	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:47087582C>T	uc001jee.2	+	3	1218	c.799C>T	c.(799-801)CTG>TTG	p.L267L	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.L267L	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	267	Helical; Name=6; (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						CAATGTGGTGCTGGTGGTGAT	0.602000												
SLC18A3	6572	broad.mit.edu	37	10	50819360	50819360	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:50819360G>A	uc001jhw.2	+	1	1014	c.574G>A	c.(574-576)GCC>ACC	p.A192T	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	192	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						CTCAGCCTTCGCCGACACGTC	0.657000												
SLC18A3	6572	broad.mit.edu	37	10	50819836	50819836	+	Silent	SNP	G	G	A	rs140704279		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:50819836G>A	uc001jhw.2	+	1	1490	c.1050G>A	c.(1048-1050)GCG>GCA	p.A350A	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	350	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						GCCTGGCGGCGCGCTACCCAC	0.697000												
LRRTM3	347731	broad.mit.edu	37	10	68687864	68687864	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:68687864C>T	uc001jmz.1	+	2	1740	c.1190C>T	c.(1189-1191)CCG>CTG	p.P397L	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.P397L	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	397	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CCTTTGCCCCCGACGGTGGGA	0.602000												
ADAMTS14	140766	broad.mit.edu	37	10	72511878	72511878	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:72511878G>T	uc001jrh.2	+	18	2624	c.2624G>T	c.(2623-2625)CGG>CTG	p.R875L	ADAMTS14_uc001jrg.2_Missense_Mutation_p.R878L	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	875	TSP type-1 2.|Poly-Arg.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						TACGGCTGCCGGCGCAGACGA	0.667000												
SGPL1	8879	broad.mit.edu	37	10	72636413	72636413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:72636413G>T	uc001jrm.2	+	14	1783	c.1561G>T	c.(1561-1563)GGA>TGA	p.G521*	SGPL1_uc009xqk.2_RNA	NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	521	Cytoplasmic (Potential).				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity				0					Pyridoxal Phosphate(DB00114)	GAAGACCACAGGAATGGTAGG	0.358000												
UNC5B	219699	broad.mit.edu	37	10	73047450	73047450	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:73047450G>A	uc001jro.2	+	6	1274	c.829G>A	c.(829-831)GCT>ACT	p.A277T	UNC5B_uc001jrp.2_Missense_Mutation_p.A277T	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	277	TSP type-1 1.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						CACCAACCCCGCTCCACTCAA	0.662000												
CDH23	64072	broad.mit.edu	37	10	73537990	73537990	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:73537990C>T	uc001jrx.3	+	38	5489	c.5112C>T	c.(5110-5112)CAC>CAT	p.H1704H		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1704	Cadherin 16.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						AGATCAGCCACGGCCGCTACA	0.607000												
PPP3CB	5532	broad.mit.edu	37	10	75239252	75239252	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:75239252G>A	uc001jue.2	-	2	244	c.109C>T	c.(109-111)CGC>TGC	p.R37C	PPP3CB_uc001juf.2_Missense_Mutation_p.R37C|PPP3CB_uc001jug.2_Missense_Mutation_p.R37C|PPP3CB_uc001jui.2_Missense_Mutation_p.R37C|PPP3CB_uc001juh.2_5'UTR	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	37	Catalytic.									skin(1)	1	Prostate(51;0.0119)					GATGTCAAGCGATGTGTTGGG	0.358000												
USP54	159195	broad.mit.edu	37	10	75276308	75276308	+	Silent	SNP	C	C	T	rs138689241		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:75276308C>T	uc001juo.2	-	18	3893	c.3876G>A	c.(3874-3876)ACG>ACA	p.T1292T	USP54_uc010qkk.1_Silent_p.T474T|USP54_uc001juk.2_Silent_p.T380T|USP54_uc001jul.2_Silent_p.T380T|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1292					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					AGGTTACACACGTATGGGAAT	0.478000												
SYNPO2L	79933	broad.mit.edu	37	10	75407549	75407549	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:75407549T>C	uc001jut.3	-	4	2013	c.1861A>G	c.(1861-1863)ACG>GCG	p.T621A	SYNPO2L_uc001jus.3_Missense_Mutation_p.T397A	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	621	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					AGGATACCCGTGCGGGCAGCT	0.711000												
DLG5	9231	broad.mit.edu	37	10	79579711	79579711	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:79579711C>T	uc001jzk.2	-	16	3538	c.3468G>A	c.(3466-3468)TCG>TCA	p.S1156S	DLG5_uc001jzi.2_5'UTR|DLG5_uc001jzj.2_Silent_p.S571S|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Silent_p.S760S	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1156					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AATGCCCAGGCGAGTAAGGTG	0.627000												
DYDC2	84332	broad.mit.edu	37	10	82122250	82122250	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:82122250A>G	uc001kca.1	+	3	431	c.51A>G	c.(49-51)GCA>GCG	p.A17A	DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Silent_p.A17A	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	17							protein binding				0			Colorectal(32;0.229)			TGGCCCAGGCACTGGCAGAGG	0.463000												
DYDC2	84332	broad.mit.edu	37	10	82126484	82126484	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:82126484T>G	uc001kca.1	+	5	691	c.311T>G	c.(310-312)TTC>TGC	p.F104C	DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Missense_Mutation_p.F104C	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	104							protein binding				0			Colorectal(32;0.229)			AAGACCATATTCATGCAGGAG	0.428000												
FAM190B	54462	broad.mit.edu	37	10	86132141	86132141	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:86132141C>T	uc001kdh.1	+	2	1527	c.1333C>T	c.(1333-1335)CCA>TCA	p.P445S	FAM190B_uc001kdg.1_Missense_Mutation_p.P445S|FAM190B_uc010qmd.1_Missense_Mutation_p.P445S	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN	granule cell antiserum positive 14	445										ovary(3)|skin(1)	4						TGAAAATGGGCCACCACAGGA	0.353000												
GRID1	2894	broad.mit.edu	37	10	87406989	87406989	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:87406989G>A	uc001kdl.1	-	13	2264	c.2163C>T	c.(2161-2163)TGC>TGT	p.C721C	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.C292C|uc001kdm.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	721	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	GACTGGACACGCAGTTGTCAG	0.617000										Multiple Myeloma(13;0.14)		
HTR7	3363	broad.mit.edu	37	10	92508761	92508761	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:92508761G>A	uc001kha.2	-	2	1373	c.1130C>T	c.(1129-1131)TCT>TTT	p.S377F	HTR7_uc001kgz.2_Missense_Mutation_p.S377F|HTR7_uc001khb.2_Missense_Mutation_p.S377F	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	377	Helical; Name=7; (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GTTAATGAGAGAGTTTGCATA	0.532000												
CYP26A1	1592	broad.mit.edu	37	10	94834167	94834167	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:94834167C>T	uc001kil.2	+	2	337	c.292C>T	c.(292-294)CGG>TGG	p.R98W	CYP26A1_uc001kik.1_Missense_Mutation_p.R29W|CYP26A1_uc001kim.1_Silent_p.C2C	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	98					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.W98*(1)		upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				GGACAATGTGCGGCGCATCTT	0.617000												
MYOF	26509	broad.mit.edu	37	10	95069859	95069859	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:95069859C>T	uc001kin.2	-	53	6188	c.6065G>A	c.(6064-6066)CGC>CAC	p.R2022H	MYOF_uc001kio.2_Missense_Mutation_p.R2009H|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	2022	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						CTTAAAGCGGCGCCACACGAT	0.532000												
PLCE1	51196	broad.mit.edu	37	10	95791574	95791574	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:95791574C>T	uc001kjk.2	+	2	1405	c.771C>T	c.(769-771)GAC>GAT	p.D257D	PLCE1_uc010qnx.1_Silent_p.D257D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	257					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.D257D(1)		ovary(2)|skin(1)	3		Colorectal(252;0.0458)				ATCATTGTGACACCTTGAATG	0.368000												
DHDPSL	112817	broad.mit.edu	37	10	99371277	99371277	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:99371277G>A	uc001kny.2	+	7	1204	c.845G>A	c.(844-846)CGC>CAC	p.R282H	DHDPSL_uc001knz.2_Missense_Mutation_p.R119H|PI4K2A_uc010qoy.1_Intron	NM_138413	NP_612422	Q86XE5	HOGA1_HUMAN	DHDPS-like protein isoform 1	282					glyoxylate catabolic process	mitochondrion	4-hydroxy-2-oxoglutarate aldolase activity				0						GTGACCCGGCGCTTTGGGATC	0.552000												
DNMBP	23268	broad.mit.edu	37	10	101645575	101645575	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:101645575C>T	uc001kqj.2	-	14	3759	c.3667G>A	c.(3667-3669)GAA>AAA	p.E1223K	DNMBP_uc010qpl.1_Missense_Mutation_p.E159K|DNMBP_uc001kqg.2_Missense_Mutation_p.E511K|DNMBP_uc001kqh.2_Missense_Mutation_p.E855K	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1223					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTGTGCTCTTCGTGGAAGATG	0.398000												
CWF19L1	55280	broad.mit.edu	37	10	101996719	101996719	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:101996719G>T	uc001kqq.1	-	12	1349	c.1262C>A	c.(1261-1263)CCT>CAT	p.P421H	CWF19L1_uc001kqs.1_Missense_Mutation_p.P173H|CWF19L1_uc001kqr.1_Intron|CWF19L1_uc001kqt.1_Missense_Mutation_p.P125H|CWF19L1_uc010qpn.1_Missense_Mutation_p.P284H	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control	421							catalytic activity				0		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GATTGGGACAGGAATGACCTG	0.507000												
POLL	27343	broad.mit.edu	37	10	103342587	103342587	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:103342587C>T	uc001ktg.1	-	6	1893	c.1127G>A	c.(1126-1128)GGC>GAC	p.G376D	DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Missense_Mutation_p.G49D|POLL_uc001kte.1_Missense_Mutation_p.G68D|POLL_uc001kth.1_Missense_Mutation_p.G101D|POLL_uc001kti.1_Missense_Mutation_p.G376D|POLL_uc001ktj.1_Missense_Mutation_p.G376D|POLL_uc001ktf.2_Missense_Mutation_p.G284D|POLL_uc001ktk.1_Missense_Mutation_p.G115D|POLL_uc010qqa.1_Missense_Mutation_p.G115D|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Missense_Mutation_p.G376D|POLL_uc001ktl.2_Missense_Mutation_p.G288D|POLL_uc010qqc.1_Missense_Mutation_p.G68D	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	DNA-directed DNA polymerase lambda	376					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding				0		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		ATGCTTCAGGCCGATGGCCTG	0.567000								DNA_polymerases_(catalytic_subunits)				
C10orf76	79591	broad.mit.edu	37	10	103716445	103716445	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:103716445G>A	uc009xwy.1	-	22	1716	c.1614C>T	c.(1612-1614)GGC>GGT	p.G538G	C10orf76_uc009xwx.1_RNA	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	538	Helical; (Potential).					integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GAAATGTGTCGCCATATGTGA	0.383000												
PITX3	5309	broad.mit.edu	37	10	103990802	103990802	+	Silent	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:103990802G>T	uc001kuu.1	-	4	532	c.378C>A	c.(376-378)GCC>GCA	p.A126A		NM_005029	NP_005020	O75364	PITX3_HUMAN	paired-like homeodomain 3	126					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGCATAGCTCGGCCTGCTGGC	0.716000												
TMEM180	79847	broad.mit.edu	37	10	104230587	104230587	+	Silent	SNP	G	G	A	rs139994075	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:104230587G>A	uc001kvt.2	+	5	636	c.417G>A	c.(415-417)ACG>ACA	p.T139T	TMEM180_uc001kvs.2_Intron|TMEM180_uc010qql.1_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.2_Silent_p.T139T	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	139	Helical; (Potential).					integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCTTCCTGACGCTCGTGGACC	0.667000												
ACTR1A	10121	broad.mit.edu	37	10	104248022	104248022	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:104248022C>T	uc001kvv.2	-	4	308	c.200G>A	c.(199-201)GGG>GAG	p.G67E	ACTR1A_uc010qqn.1_5'UTR|ACTR1A_uc010qqo.1_Missense_Mutation_p.G20E	NM_005736	NP_005727	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A,	67					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)	1		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TGAAAGCAGCCCTCGGTGCTC	0.522000												
PDCD11	22984	broad.mit.edu	37	10	105200319	105200319	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:105200319G>A	uc001kwy.1	+	29	4508	c.4421G>A	c.(4420-4422)CGG>CAG	p.R1474Q		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1474					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CGGGAGTGCCGGGAGTCTGGG	0.567000												
CALHM2	51063	broad.mit.edu	37	10	105209370	105209370	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:105209370G>A	uc001kwz.2	-	2	715	c.329C>T	c.(328-330)GCG>GTG	p.A110V	CALHM2_uc001kxa.2_Missense_Mutation_p.A110V|CALHM2_uc001kxc.2_Missense_Mutation_p.A110V|CALHM2_uc001kxb.2_Missense_Mutation_p.A110V|CALHM2_uc001kxd.1_Missense_Mutation_p.A110V	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	110	Helical; (Potential).					integral to membrane				skin(1)	1						GGCCACAGCCGCACGTCCCAG	0.627000												
DUSP5	1847	broad.mit.edu	37	10	112258051	112258051	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:112258051G>A	uc001kzd.2	+	1	427	c.172G>A	c.(172-174)GGC>AGC	p.G58S		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	58	Nuclear localization signal (Potential).|Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		ggcccggggcggcgcggTGTC	0.647000												
ADRA2A	150	broad.mit.edu	37	10	112838242	112838242	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:112838242G>A	uc001kzo.2	+	1	1453	c.488G>A	c.(487-489)CGC>CAC	p.R163H		NM_000681	NP_000672	P08913	ADA2A_HUMAN	alpha-2A-adrenergic receptor	148	Cytoplasmic (By similarity).				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding				0		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CGCACGCCGCGCCGCATCAAG	0.547000												
C10orf96	374355	broad.mit.edu	37	10	118117366	118117366	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:118117366A>G	uc001lck.2	+	7	820	c.569A>G	c.(568-570)AAT>AGT	p.N190S		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	hypothetical protein LOC374355	190	Potential.									ovary(2)	2		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		GATGAAGAGAATGAATCCATT	0.279000												
EIF3A	8661	broad.mit.edu	37	10	120801712	120801712	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:120801712C>T	uc001ldu.2	-	19	3466	c.3320G>A	c.(3319-3321)CGG>CAG	p.R1107Q	EIF3A_uc010qsu.1_Missense_Mutation_p.R1073Q|EIF3A_uc009xzg.1_Missense_Mutation_p.R146Q	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1107	Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|19.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCTGGGACCCCGGTCATCATC	0.627000												
CHST15	51363	broad.mit.edu	37	10	125805494	125805494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:125805494G>A	uc001lhl.2	-	1	748	c.235C>T	c.(235-237)CGA>TGA	p.R79*	CHST15_uc001lhm.2_Nonsense_Mutation_p.R79*|CHST15_uc001lhn.2_Nonsense_Mutation_p.R79*|CHST15_uc010que.1_Nonsense_Mutation_p.R79*|CHST15_uc001lho.2_Nonsense_Mutation_p.R79*	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	79	Cytoplasmic (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						AGGCTACATCGCTTCCCCTTT	0.473000												
OAT	4942	broad.mit.edu	37	10	126097148	126097148	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:126097148C>T	uc001lhp.2	-	4	590	c.483G>A	c.(481-483)AAG>AAA	p.K161K	OAT_uc001lhq.2_RNA|OAT_uc001lhr.2_Silent_p.K23K	NM_000274	NP_000265	P04181	OAT_HUMAN	ornithine aminotransferase precursor	161					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding				0		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	TCTGAATGCCCTTCACGGTAT	0.328000												
GPR123	84435	broad.mit.edu	37	10	134941863	134941863	+	Silent	SNP	C	C	T	rs148877077		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:134941863C>T	uc001llx.3	+	7	967	c.531C>T	c.(529-531)GGC>GGT	p.G177G	GPR123_uc001llw.2_Silent_p.G896G	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	177	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCAGCCTGGGCGCCTTCTACG	0.692000												
KNDC1	85442	broad.mit.edu	37	10	135020656	135020656	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:135020656C>T	uc001llz.1	+	20	3596	c.3595C>T	c.(3595-3597)CGC>TGC	p.R1199C	KNDC1_uc001lma.1_3'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1199					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GTACGCGGAACGCTGGGGCCT	0.677000												
NLRP6	171389	broad.mit.edu	37	11	281325	281325	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:281325C>T	uc010qvs.1	+	4	1591	c.1591C>T	c.(1591-1593)CGT>TGT	p.R531C	NLRP6_uc010qvt.1_Missense_Mutation_p.R531C	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	531						cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GACACTCCTGCGTGGGGACGC	0.692000												
CEND1	51286	broad.mit.edu	37	11	788426	788426	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:788426G>A	uc001lrh.1	-	2	330	c.151C>T	c.(151-153)CCG>TCG	p.P51S		NM_016564	NP_057648	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	51	Cytoplasmic (Potential).					integral to membrane					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGGCGGCTGCTGCTTC	0.682000												
OR51D1	390038	broad.mit.edu	37	11	4661386	4661386	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:4661386C>T	uc010qyk.1	+	1	366	c.366C>T	c.(364-366)GCC>GCT	p.A122A		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	122	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTGTCAGCCGTGGAGTCAG	0.552000												
OR51Q1	390061	broad.mit.edu	37	11	5443929	5443929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:5443929C>T	uc010qzd.1	+	1	499	c.499C>T	c.(499-501)CGA>TGA	p.R167*	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTACTCAAGCGACTGCCTTT	0.517000												
OR52N2	390077	broad.mit.edu	37	11	5842064	5842064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:5842064C>T	uc010qzp.1	+	1	499	c.499C>T	c.(499-501)CGC>TGC	p.R167C	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCACCAAGCGCCTGCCCTA	0.517000												
DNHD1	144132	broad.mit.edu	37	11	6520071	6520071	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:6520071C>T	uc001mdw.3	+	3	1190	c.626C>T	c.(625-627)GCT>GTT	p.A209V	DNHD1_uc001mdp.2_Missense_Mutation_p.A209V	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	209					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTAGAAGAGGCTGTGTGGCTG	0.577000												
RRP8	23378	broad.mit.edu	37	11	6622758	6622758	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:6622758G>A	uc001med.2	-	3	617	c.538C>T	c.(538-540)CCT>TCT	p.P180S	ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	180					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						AATGTATGAGGGGGTTTAGGG	0.542000												
SYT9	143425	broad.mit.edu	37	11	7324372	7324372	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:7324372G>A	uc001mfe.2	+	2	485	c.248G>A	c.(247-249)CGA>CAA	p.R83Q	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	83	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GTTCCGTGGCGAGAACGAGGC	0.542000												
OR5P3	120066	broad.mit.edu	37	11	7847414	7847414	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:7847414C>T	uc010rbg.1	-	1	106	c.106G>A	c.(106-108)GTT>ATT	p.V36I		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGGTGACAACATAAATTCCT	0.368000												
ST5	6764	broad.mit.edu	37	11	8752691	8752691	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:8752691T>A	uc001mgt.2	-	3	332	c.146A>T	c.(145-147)GAT>GTT	p.D49V	ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Missense_Mutation_p.D49V|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.D49V	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	49	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGTTTCACTATCACTGAGCGG	0.562000												
MICAL2	9645	broad.mit.edu	37	11	12246337	12246337	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:12246337C>T	uc001mjz.2	+	13	1946	c.1658C>T	c.(1657-1659)GCC>GTC	p.A553V	MICAL2_uc010rch.1_Missense_Mutation_p.A553V|MICAL2_uc001mka.2_Missense_Mutation_p.A553V|MICAL2_uc010rci.1_Missense_Mutation_p.A553V|MICAL2_uc001mkb.2_Missense_Mutation_p.A553V|MICAL2_uc001mkc.2_Missense_Mutation_p.A553V|MICAL2_uc001mkd.2_Missense_Mutation_p.A382V|MICAL2_uc010rcj.1_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	553	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		GCCCTGTGTGCCATCATCCAC	0.622000												
NAV2	89797	broad.mit.edu	37	11	20099098	20099098	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:20099098G>A	uc010rdm.1	+	25	5513	c.5152G>A	c.(5152-5154)GCT>ACT	p.A1718T	NAV2_uc001mpp.2_Missense_Mutation_p.A1598T|NAV2_uc001mpr.3_Missense_Mutation_p.A1662T|NAV2_uc001mpt.2_Missense_Mutation_p.A711T|NAV2_uc009yhx.2_Missense_Mutation_p.A726T|NAV2_uc009yhy.1_Missense_Mutation_p.A624T|NAV2_uc009yhz.2_Missense_Mutation_p.A307T|NAV2_uc001mpu.2_Missense_Mutation_p.A100T	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1718	Potential.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TCCCCTCCAGGCTCACCTTGT	0.468000												
DBX1	120237	broad.mit.edu	37	11	20177883	20177883	+	Silent	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:20177883C>A	uc001mpw.1	-	4	1026	c.1026G>T	c.(1024-1026)CCG>CCT	p.P342P		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	303					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTGGCAGCCGCGGGTCCCGCA	0.716000												
C11orf46	120534	broad.mit.edu	37	11	30358285	30358285	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:30358285G>A	uc001mso.1	+	4	890	c.726G>A	c.(724-726)CTG>CTA	p.L242L	C11orf46_uc001msp.2_5'Flank	NM_152316	NP_689529	Q8N8R7	CK046_HUMAN	hypothetical protein LOC120534	242											0						GCAAGTGGCTGTATGAGCAAA	0.433000												
TRAF6	7189	broad.mit.edu	37	11	36520186	36520186	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:36520186C>T	uc001mwr.1	-	4	641	c.301G>A	c.(301-303)GCA>ACA	p.A101T	TRAF6_uc001mws.1_Missense_Mutation_p.A101T	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	101	Interaction with TAX1BP1.|RING-type.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				TTGTGACCTGCATCCCTAACA	0.323000												
PTPMT1	114971	broad.mit.edu	37	11	47593071	47593071	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:47593071C>T	uc001nfs.3	+	4	689	c.496C>T	c.(496-498)CGG>TGG	p.R166W	PTPMT1_uc001nfv.3_Missense_Mutation_p.P138L|PTPMT1_uc009ylt.2_Missense_Mutation_p.R102W|PTPMT1_uc001nfu.3_3'UTR|NDUFS3_uc001nft.3_5'UTR	NM_175732	NP_783859	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	166	Tyrosine-protein phosphatase.				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(1)	1						CGCCAAGATCCGGTCATACAT	0.493000												
OR4C13	283092	broad.mit.edu	37	11	49974661	49974661	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:49974661G>T	uc010rhz.1	+	1	687	c.687G>T	c.(685-687)GAG>GAT	p.E229D		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						ACAGCTTAGAGGCAAGGCACG	0.478000												
OR5F1	338674	broad.mit.edu	37	11	55762042	55762042	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:55762042C>T	uc010riv.1	-	1	60	c.60G>A	c.(58-60)ACG>ACA	p.T20T		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					GTAGCTCCAGCGTGTCTGCTA	0.363000												
OR5AP2	338675	broad.mit.edu	37	11	56409703	56409703	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:56409703G>T	uc001njb.1	-	1	213	c.213C>A	c.(211-213)AGC>AGA	p.S71R		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	71	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						CAAAAGAGAGGCTACTGAGAA	0.433000												
P2RX3	5024	broad.mit.edu	37	11	57118321	57118321	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:57118321G>A	uc001nju.2	+	8	867	c.791G>A	c.(790-792)CGG>CAG	p.R264Q		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	264	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						TCCTTCACCCGGCTCGACAGC	0.572000												
SMTNL1	219537	broad.mit.edu	37	11	57314092	57314092	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:57314092G>A	uc009ymh.1	+	7	1361	c.1361G>A	c.(1360-1362)CGG>CAG	p.R454Q		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	436										ovary(1)	1						GCAAAGCGCCGGCACAACTTC	0.592000												
GLYATL1	92292	broad.mit.edu	37	11	58714625	58714625	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:58714625C>A	uc001nnf.2	+	4	441	c.65C>A	c.(64-66)CCT>CAT	p.P22H	uc001nng.1_Intron|GLYATL1_uc001nnh.1_Intron|GLYATL1_uc001nni.1_Missense_Mutation_p.P22H|GLYATL1_uc001nnj.1_Missense_Mutation_p.P22H			Q969I3	GLYL1_HUMAN	SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	22						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)	AGGAGCATCCCTGAGTCCCTG	0.502000												
PRPF19	27339	broad.mit.edu	37	11	60666067	60666067	+	Silent	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:60666067T>C	uc001nqf.2	-	13	1293	c.1086A>G	c.(1084-1086)GGA>GGG	p.G362G		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	PRP19/PSO4 pre-mRNA processing factor 19	362	WD 4.				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1						CAAAGATGAGTCCGTCAGGGT	0.557000												
DAK	26007	broad.mit.edu	37	11	61110303	61110303	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:61110303C>T	uc001nre.2	+	10	1109	c.852C>T	c.(850-852)ACC>ACT	p.T284T	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Silent_p.T214T	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	284	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						CCGACGCTACCGTCCGCTCCC	0.478000												
SYT7	9066	broad.mit.edu	37	11	61290643	61290643	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:61290643G>A	uc001nrv.2	-	8	1017	c.1011C>T	c.(1009-1011)TTC>TTT	p.F337F	SYT7_uc009ynr.2_Silent_p.F412F	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	337	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						TATCGAAGGCGAAGGACTCAT	0.527000												
FADS2	9415	broad.mit.edu	37	11	61624930	61624930	+	Silent	SNP	G	G	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:61624930G>C	uc001nsl.1	+	7	960	c.810G>C	c.(808-810)GGG>GGC	p.G270G	FADS2_uc001nsj.2_Silent_p.G248G|FADS2_uc010rlo.1_Silent_p.G239G|FADS2_uc001nsk.2_Silent_p.G270G	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2	270	Helical; (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)	CTGCAGTTGGGCCGCCGCTGC	0.592000												
TAF6L	10629	broad.mit.edu	37	11	62554088	62554088	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:62554088T>C	uc001nvc.2	+	11	1290	c.1189T>C	c.(1189-1191)TGG>CGG	p.W397R	TMEM179B_uc001nvd.3_5'Flank	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	397					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3						CGACCTGCCATGGGACAGCCT	0.706000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC22A12	116085	broad.mit.edu	37	11	64359362	64359362	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:64359362G>A	uc001oam.1	+	1	1081	c.334G>A	c.(334-336)GAC>AAC	p.D112N	SLC22A12_uc009ypr.1_Missense_Mutation_p.D112N|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.D112N|SLC22A12_uc001oan.1_Missense_Mutation_p.D112N|SLC22A12_uc009ypt.2_5'Flank	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	112					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						GAGCGAGGCCGACACGGAGCC	0.677000												
CDC42EP2	10435	broad.mit.edu	37	11	65088566	65088566	+	Missense_Mutation	SNP	C	C	T	rs139397769		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:65088566C>T	uc001odl.2	+	2	647	c.197C>T	c.(196-198)CCG>CTG	p.P66L		NM_006779	NP_006770	O14613	BORG1_HUMAN	Cdc42 effector protein 2	66					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity				0						CACCTCCTGCCGGGGACCATG	0.652000												
EHBP1L1	254102	broad.mit.edu	37	11	65348778	65348778	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:65348778C>T	uc001oeo.3	+	8	1065	c.800C>T	c.(799-801)GCT>GTT	p.A267V	EHBP1L1_uc001oep.1_5'Flank	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	267										central_nervous_system(1)	1						TCAGAACGAGCTAATGAAGCG	0.637000												
SNX32	254122	broad.mit.edu	37	11	65617684	65617684	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:65617684G>A	uc001ofr.2	+	4	443	c.316G>A	c.(316-318)GAG>AAG	p.E106K	SNX32_uc009yqt.2_3'UTR|SNX32_uc010rop.1_Silent_p.A145A	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	106	PX.				cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		GAAATTGGGCGAGGGGGACAG	0.602000												
BRMS1	25855	broad.mit.edu	37	11	66108741	66108741	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:66108741G>A	uc001ohp.1	-	4	441	c.294C>T	c.(292-294)GCC>GCT	p.A98A	BRMS1_uc001oho.1_Silent_p.A98A|BRMS1_uc009yre.2_5'Flank	NM_015399	NP_056214	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1 isoform 1	98					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding				0						TGTATTCAGGGGCTCTCTCAG	0.612000												
SLC29A2	3177	broad.mit.edu	37	11	66131818	66131818	+	Silent	SNP	G	G	A	rs144983007		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:66131818G>A	uc001oht.2	-	11	1366	c.1137C>T	c.(1135-1137)CAC>CAT	p.H379H	SLC29A2_uc001ohs.2_Silent_p.H259H|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Silent_p.H259H|SLC29A2_uc001ohu.2_Silent_p.H379H|SLC29A2_uc001ohv.2_Missense_Mutation_p.R335C	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	379	Helical; (Potential).				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						TCTGGGGCACGTGGCACAGCA	0.607000												
ADRBK1	156	broad.mit.edu	37	11	67051203	67051203	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:67051203T>C	uc009yrn.1	+	16	1620	c.1354T>C	c.(1354-1356)TTT>CTT	p.F452L	ADRBK1_uc009yrm.1_Intron	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	452	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGAGAGCCCCTTTTTCCGCTC	0.532000												
SHANK2	22941	broad.mit.edu	37	11	70338494	70338494	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:70338494C>T	uc001oqc.2	-	18	2463	c.2385G>A	c.(2383-2385)GCG>GCA	p.A795A	SHANK2_uc010rqn.1_Silent_p.A207A|SHANK2_uc001opz.2_Silent_p.A200A|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Silent_p.A197A|SHANK2_uc001opy.2_5'UTR|SHANK2_uc010rqo.1_Silent_p.A8A	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	416					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTTGATGGTCGCCACCCTCG	0.652000												
ARAP1	116985	broad.mit.edu	37	11	72408052	72408052	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:72408052G>A	uc001osu.2	-	22	3331	c.3142C>T	c.(3142-3144)CGC>TGC	p.R1048C	ARAP1_uc001osv.2_Missense_Mutation_p.R1048C|ARAP1_uc001osr.2_Missense_Mutation_p.R808C|ARAP1_uc001oss.2_Missense_Mutation_p.R803C|ARAP1_uc009yth.2_Missense_Mutation_p.R742C|ARAP1_uc010rre.1_Missense_Mutation_p.R803C	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1048	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						CAGGTTAGGCGCTGGGCGCGA	0.677000												
KCTD14	65987	broad.mit.edu	37	11	77728068	77728068	+	Silent	SNP	G	G	A	rs143415219	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:77728068G>A	uc001oyw.3	-	2	364	c.339C>T	c.(337-339)TAC>TAT	p.Y113Y		NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	potassium channel tetramerisation domain	113	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GCTTGATTTCGTAGAACTGAG	0.562000												
ODZ4	26011	broad.mit.edu	37	11	78440668	78440668	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:78440668A>G	uc001ozl.3	-	22	3622	c.3159T>C	c.(3157-3159)TCT>TCC	p.S1053S		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1053	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						AGCCAGAGATAGAGATTTCCT	0.582000												
PCF11	51585	broad.mit.edu	37	11	82879875	82879875	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:82879875G>A	uc001ozx.3	+	8	2843	c.2498G>A	c.(2497-2499)CGG>CAG	p.R833Q	PCF11_uc010rsu.1_Missense_Mutation_p.R964Q	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	833	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						ACACCTCTGCGGTTTGAGGGC	0.552000												
FZD4	8322	broad.mit.edu	37	11	86662733	86662733	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:86662733G>A	uc001pce.2	-	2	1371	c.1065C>T	c.(1063-1065)CCC>CCT	p.P355P	PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	355	Helical; Name=4; (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTTCACTGCGGGGATGGCCC	0.478000												
CCDC67	159989	broad.mit.edu	37	11	93088580	93088580	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:93088580A>G	uc001pdq.2	+	3	173	c.73A>G	c.(73-75)ATT>GTT	p.I25V	CCDC67_uc001pdo.1_Missense_Mutation_p.I25V|CCDC67_uc001pdp.2_Missense_Mutation_p.I25V	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	25	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AATGGAACAAATTGACATCAT	0.388000												
FOLR4	390243	broad.mit.edu	37	11	94040602	94040602	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:94040602G>T	uc010rud.1	+	4	476	c.476G>T	c.(475-477)TGC>TTC	p.C159F		NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN	folate receptor 4 (delta) homolog	166						extracellular region	folic acid binding|receptor activity			ovary(1)	1						AAGAACCGCTGCCCCAAAGGG	0.597000												
CASP5	838	broad.mit.edu	37	11	104872817	104872817	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:104872817T>C	uc010rva.1	-	5	687	c.655A>G	c.(655-657)ATG>GTG	p.M219V	CASP5_uc010ruz.1_Missense_Mutation_p.M232V|CASP5_uc010rvb.1_Missense_Mutation_p.M161V|CASP5_uc010rvc.1_Missense_Mutation_p.M77V|CASP5_uc009yxh.2_Missense_Mutation_p.M1V|CASP5_uc010rvd.1_Missense_Mutation_p.M1V	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	219					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AGCCTTTTCATCCCCACGATG	0.502000												
KBTBD3	143879	broad.mit.edu	37	11	105924527	105924527	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:105924527T>C	uc001pja.2	-	4	1529	c.889A>G	c.(889-891)ATA>GTA	p.I297V	KBTBD3_uc001pjb.2_Missense_Mutation_p.I297V|KBTBD3_uc009yxm.2_Missense_Mutation_p.I218V	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	293	Kelch 1.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TGAATGAATATGTATTTCTCA	0.368000												
SIK2	23235	broad.mit.edu	37	11	111594498	111594498	+	Missense_Mutation	SNP	G	G	A	rs34223841	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:111594498G>A	uc001plt.2	+	15	2544	c.2426G>A	c.(2425-2427)CGG>CAG	p.R809Q		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	809					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						TCCGGTCCCCGGGCTGCTCCT	0.522000												
BCO2	83875	broad.mit.edu	37	11	112064635	112064635	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:112064635G>A	uc001pnf.2	+	4	668	c.551G>A	c.(550-552)CGG>CAG	p.R184Q	BCO2_uc001pne.1_Missense_Mutation_p.R11Q|BCO2_uc001png.2_Intron|BCO2_uc001pnh.2_Missense_Mutation_p.R150Q|BCO2_uc010rwt.1_Missense_Mutation_p.R79Q|BCO2_uc009yyn.2_Missense_Mutation_p.R150Q|BCO2_uc001pni.2_Missense_Mutation_p.R150Q	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	184					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AACTATGTGCGGTACAAGGGT	0.393000												
USP2	9099	broad.mit.edu	37	11	119230349	119230349	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:119230349G>A	uc001pwm.3	-	4	1142	c.847C>T	c.(847-849)CAG>TAG	p.Q283*	USP2_uc001pwl.3_Nonsense_Mutation_p.Q74*|USP2_uc001pwn.3_Nonsense_Mutation_p.Q40*	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	283					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CTCAGGCACTGCAGAATTGAG	0.547000												
TRIM29	23650	broad.mit.edu	37	11	120008124	120008124	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:120008124C>T	uc001pwz.2	-	1	740	c.616G>A	c.(616-618)GCC>ACC	p.A206T	TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	206					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGGAAGGCGGCGCCCTCCAGG	0.642000												
TECTA	7007	broad.mit.edu	37	11	120980130	120980130	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:120980130G>A	uc010rzo.1	+	3	409	c.409G>A	c.(409-411)GCA>ACA	p.A137T		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	137	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAAAGACATGGCAACCTTCTC	0.458000												
SORL1	6653	broad.mit.edu	37	11	121393349	121393349	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:121393349C>A	uc001pxx.2	+	10	1539	c.1459C>A	c.(1459-1461)CTC>ATC	p.L487I		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	487	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCTCCTCAACCTCCAGCTCCG	0.552000												
ROBO3	64221	broad.mit.edu	37	11	124742441	124742441	+	Silent	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:124742441A>C	uc001qbc.2	+	8	1515	c.1323A>C	c.(1321-1323)ATA>ATC	p.I441I		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	441	Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGCTGGAGATAAAAGGAGGTA	0.527000												
VPS26B	112936	broad.mit.edu	37	11	134109914	134109914	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:134109914G>A	uc001qhe.2	+	3	866	c.410G>A	c.(409-411)CGC>CAC	p.R137H		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B	137					protein transport|vacuolar transport	cytosol|retromer complex					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		ATCAGCCGCCGCCTCAATGAT	0.468000												
CACNA2D4	93589	broad.mit.edu	37	12	1992068	1992068	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:1992068C>T	uc001qjp.2	-	13	1681	c.1450G>A	c.(1450-1452)GAC>AAC	p.D484N	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.D372N	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	484	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAGATGATGTCGTGGTCGTGG	0.592000												
KCNA1	3736	broad.mit.edu	37	12	5021641	5021641	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:5021641C>T	uc001qnh.2	+	2	2202	c.1097C>T	c.(1096-1098)GCG>GTG	p.A366V		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	366					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCTGGTGGGCGGTGGTGTCC	0.542000												
KCNA1	3736	broad.mit.edu	37	12	5021769	5021769	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:5021769T>A	uc001qnh.2	+	2	2330	c.1225T>A	c.(1225-1227)TCC>ACC	p.S409T		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	409					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGTCATTGTGTCCAATTTCAA	0.527000												
CHD4	1108	broad.mit.edu	37	12	6687228	6687228	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:6687228C>A	uc001qpo.2	-	36	5359	c.5195G>T	c.(5194-5196)CGG>CTG	p.R1732L	CHD4_uc001qpn.2_Missense_Mutation_p.R1725L|CHD4_uc001qpp.2_Missense_Mutation_p.R1757L|uc001qpq.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1732	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GTAGTCATGCCGTCGATGCCA	0.473000												
CHD4	1108	broad.mit.edu	37	12	6692034	6692034	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:6692034G>A	uc001qpo.2	-	28	4380	c.4216C>T	c.(4216-4218)CGT>TGT	p.R1406C	CHD4_uc001qpn.2_Missense_Mutation_p.R1399C|CHD4_uc001qpp.2_Missense_Mutation_p.R1431C|uc001qpq.1_Silent_p.T79T|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1406					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						CCACCAACACGGGCCAACAGA	0.498000												
ACRBP	84519	broad.mit.edu	37	12	6749371	6749371	+	Missense_Mutation	SNP	C	C	T	rs114920773	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:6749371C>T	uc001qpu.1	-	8	1328	c.1280G>A	c.(1279-1281)CGC>CAC	p.R427H	LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Missense_Mutation_p.R394H	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	427						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						CCCGTAAAAGCGGCCTGATTC	0.637000												
CLSTN3	9746	broad.mit.edu	37	12	7303159	7303159	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:7303159G>A	uc001qsr.2	+	15	2543	c.2265G>A	c.(2263-2265)GTG>GTA	p.V755V	CLSTN3_uc001qss.2_Silent_p.V767V	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	755	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						GCATCACTGTGTATGAAGAGA	0.607000												
GDF3	9573	broad.mit.edu	37	12	7842978	7842978	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:7842978A>T	uc001qte.2	-	2	627	c.591T>A	c.(589-591)AAT>AAA	p.N197K		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	growth differentiation factor 3 precursor	197					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						ATAACCCGAAATTTTTCCGGG	0.473000												
TAS2R10	50839	broad.mit.edu	37	12	10978047	10978047	+	Silent	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:10978047T>G	uc001qyy.1	-	1	822	c.822A>C	c.(820-822)TCA>TCC	p.S274S		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	274	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity				0						TTAAGATAAATGAGTGACCCC	0.413000												
TAS2R14	50840	broad.mit.edu	37	12	11091290	11091290	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:11091290T>C	uc010shi.1	-	1	517	c.517A>G	c.(517-519)ACA>GCA	p.T173A	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	173	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity				0						GAAAATCGTGTAAAGTTACTT	0.353000												
WBP11	51729	broad.mit.edu	37	12	14944192	14944192	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:14944192C>T	uc001rci.2	-	9	1087	c.926G>A	c.(925-927)CGG>CAG	p.R309Q		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	309	Interaction with PP1 (By similarity).				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2						ATCTGCAAACCGTACACTCAG	0.428000												
C12orf60	144608	broad.mit.edu	37	12	14975984	14975984	+	Missense_Mutation	SNP	C	C	T	rs150460169	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:14975984C>T	uc001rcj.3	+	2	319	c.115C>T	c.(115-117)CGC>TGC	p.R39C		NM_175874	NP_787070	Q5U649	CL060_HUMAN	hypothetical protein LOC144608	39										ovary(1)|central_nervous_system(1)	2						ATTGTTTAGCCGCAGTATGAA	0.338000												
PDE3A	5139	broad.mit.edu	37	12	20766597	20766597	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:20766597A>T	uc001reh.1	+	3	1254	c.1232A>T	c.(1231-1233)GAA>GTA	p.E411V		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	411					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCTGACTCTGAAGAGAGCTCT	0.428000												
SLCO1B1	10599	broad.mit.edu	37	12	21391984	21391984	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:21391984C>T	uc001req.3	+	15	2041	c.1937C>T	c.(1936-1938)GCC>GTC	p.A646V		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	646	Helical; Name=12; (Potential).				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			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ttaatttatGCCATGAAGAAA	0.274000												
ABCC9	10060	broad.mit.edu	37	12	22035805	22035805	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:22035805C>A	uc001rfi.1	-	14	1934	c.1914G>T	c.(1912-1914)CAG>CAT	p.Q638H	ABCC9_uc001rfh.2_Missense_Mutation_p.Q638H|ABCC9_uc001rfj.1_Intron	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	638	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)	TAGTTTTTGGCTGCTGCATTC	0.403000												
IFLTD1	160492	broad.mit.edu	37	12	25671789	25671789	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:25671789C>T	uc001rgs.2	-	7	1216	c.1066G>A	c.(1066-1068)GCT>ACT	p.A356T	IFLTD1_uc001rgt.1_Missense_Mutation_p.A259T|IFLTD1_uc010sji.1_Missense_Mutation_p.A377T|IFLTD1_uc010sjj.1_Missense_Mutation_p.A293T|IFLTD1_uc009zjc.2_Missense_Mutation_p.A337T	NM_152590	NP_689803	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	356						intermediate filament	structural molecule activity			ovary(2)|central_nervous_system(1)	3	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CTGCCTCCAGCGGTGGATGTA	0.522000											OREG0031252	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)
ARID2	196528	broad.mit.edu	37	12	46245344	46245344	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:46245344G>A	uc001ros.1	+	15	3438	c.3438G>A	c.(3436-3438)TCG>TCA	p.S1146S	ARID2_uc001ror.2_Silent_p.S1146S|ARID2_uc009zkg.1_Silent_p.S602S|ARID2_uc009zkh.1_Silent_p.S773S|ARID2_uc001rou.1_Silent_p.S480S	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1146					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGCCCATTTCGAACTTACAAA	0.483000												
GPD1	2819	broad.mit.edu	37	12	50501526	50501526	+	Silent	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:50501526T>C	uc001rvz.2	+	6	822	c.789T>C	c.(787-789)ACT>ACC	p.T263T	GPD1_uc001rwa.2_Silent_p.T240T	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	263					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	ACCTGATCACTACCTGCTATG	0.597000												
EIF4B	1975	broad.mit.edu	37	12	53413753	53413753	+	Silent	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:53413753T>C	uc001sbh.3	+	4	626	c.420T>C	c.(418-420)GGT>GGC	p.G140G	EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Silent_p.G140G|EIF4B_uc010snv.1_Intron|EIF4B_uc001sbi.2_5'UTR	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	140	RRM.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(1)|kidney(1)	2						AAGGTTTTGGTTATGCTGAAT	0.443000												
ZBTB39	9880	broad.mit.edu	37	12	57398126	57398126	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:57398126G>A	uc001sml.1	-	2	662	c.576C>T	c.(574-576)GAC>GAT	p.D192D	RDH16_uc010sqx.1_5'Flank	NM_014830	NP_055645	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1						TATGGTTAGCGTCACTGGCAA	0.542000												
LRP1	4035	broad.mit.edu	37	12	57570998	57570998	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:57570998C>A	uc001snd.2	+	25	4632	c.4166C>A	c.(4165-4167)CCA>CAA	p.P1389Q		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1389	Extracellular (Potential).|LDL-receptor class B 9.				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)	ATTGAGCACCCAAGGGCAATC	0.637000												
METTL1	4234	broad.mit.edu	37	12	58162893	58162893	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:58162893C>A	uc010ssd.1	-	6	765	c.717G>T	c.(715-717)GAG>GAT	p.E239D	CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.2_3'UTR	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	methyltransferase-like protein 1 isoform a	239	S-adenosyl-L-methionine binding.					cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding				0	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			TCTTCCCCTCCTCAGTTGAGG	0.542000												
LRIG3	121227	broad.mit.edu	37	12	59272641	59272641	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:59272641C>T	uc001sqr.2	-	14	2294	c.2048G>A	c.(2047-2049)GGA>GAA	p.G683E	LRIG3_uc009zqh.2_Missense_Mutation_p.G623E|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	683	Ig-like C2-type 2.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			TGAAATACTTCCTGCACTGTT	0.443000												
GRIP1	23426	broad.mit.edu	37	12	66814553	66814553	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:66814553T>G	uc001stk.2	-	14	1870	c.1629A>C	c.(1627-1629)AAA>AAC	p.K543N	GRIP1_uc010sta.1_Missense_Mutation_p.K487N|GRIP1_uc001stj.2_Missense_Mutation_p.K325N|GRIP1_uc001stl.1_Missense_Mutation_p.K435N|GRIP1_uc001stm.2_Missense_Mutation_p.K543N	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	595	PDZ 5.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGTCTCCTGGTTTTCTACTGG	0.368000												
PTPRB	5787	broad.mit.edu	37	12	70948972	70948972	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:70948972T>A	uc001swb.3	-	18	4487	c.4457A>T	c.(4456-4458)AAA>ATA	p.K1486I	PTPRB_uc010sto.1_Missense_Mutation_p.K1396I|PTPRB_uc010stp.1_Missense_Mutation_p.K1396I|PTPRB_uc001swc.3_Missense_Mutation_p.K1704I|PTPRB_uc001swa.3_Missense_Mutation_p.K1616I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1486	Fibronectin type-III 17.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGTGAAGTATTTCACAGCTCC	0.453000												
PTPRR	5801	broad.mit.edu	37	12	71286586	71286586	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:71286586C>T	uc001swi.1	-	2	646	c.230G>A	c.(229-231)CGC>CAC	p.R77H		NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	77	Extracellular (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AATCTGGTGGCGTTTGCTTAC	0.448000												
MYF6	4618	broad.mit.edu	37	12	81102715	81102715	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:81102715C>T	uc001szf.1	+	3	758	c.705C>T	c.(703-705)TGC>TGT	p.C235C		NM_002469	NP_002460	P23409	MYF6_HUMAN	myogenic factor 6	235					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						AACTCCCCTGCGTGGAGGAAG	0.537000												
STAB2	55576	broad.mit.edu	37	12	104015889	104015889	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:104015889G>T	uc001tjw.2	+	5	673	c.487G>T	c.(487-489)GTG>TTG	p.V163L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	163	Extracellular (Potential).|EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CTGTTCATCAGGTATGTCTGA	0.428000												
STAB2	55576	broad.mit.edu	37	12	104121068	104121068	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:104121068C>T	uc001tjw.2	+	47	5061	c.4875C>T	c.(4873-4875)GTC>GTT	p.V1625V	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1625	Extracellular (Potential).|FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						AAGATCTGGTCGGCCCAGGCC	0.527000												
PRDM4	11108	broad.mit.edu	37	12	108128295	108128295	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:108128295G>A	uc001tmp.2	-	12	2535	c.2098C>T	c.(2098-2100)CGC>TGC	p.R700C	PRDM4_uc010sww.1_Missense_Mutation_p.R107C|PRDM4_uc001tmq.2_RNA	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	700					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						TTGATCTGGCGTTCTCTAAGA	0.403000												
PRDM4	11108	broad.mit.edu	37	12	108134747	108134747	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:108134747G>A	uc001tmp.2	-	10	2337	c.1900C>T	c.(1900-1902)CGG>TGG	p.R634W	PRDM4_uc010sww.1_Missense_Mutation_p.R41W|PRDM4_uc001tmq.2_RNA	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	634	C2H2-type 2.				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						AGGTGGGTCCGCAGGTTGCTG	0.448000												
GLTP	51228	broad.mit.edu	37	12	110293442	110293442	+	Silent	SNP	G	G	A	rs138733952		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:110293442G>A	uc001tpm.2	-	4	543	c.429C>T	c.(427-429)ATC>ATT	p.I143I	GLTP_uc010sxt.1_RNA	NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	143						cytoplasm	glycolipid binding|glycolipid transporter activity				0		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TCTTCTGCACGATCCAGCCAT	0.617000												
PPP1CC	5501	broad.mit.edu	37	12	111158936	111158936	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:111158936G>T	uc001tru.2	-	7	1162	c.917C>A	c.(916-918)GCC>GAC	p.A306D		NM_002710	NP_002701	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma	306					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity	p.A306S(1)		lung(2)|central_nervous_system(1)	3						AGGTCTCGTGGCATTTGGCTT	0.393000												
SH2B3	10019	broad.mit.edu	37	12	111884789	111884789	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:111884789A>G	uc001tse.2	+	4	1235	c.878A>G	c.(877-879)CAG>CGG	p.Q293R	SH2B3_uc010syf.1_Missense_Mutation_p.Q293R|SH2B3_uc001tsf.2_Missense_Mutation_p.Q293R|SH2B3_uc010syg.1_Missense_Mutation_p.Q91R	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	293	PH.				blood coagulation	cytosol	signal transducer activity			ovary(1)	1						GGAGACGAGCAGCAGCTGAAT	0.577000												
ACAD10	80724	broad.mit.edu	37	12	112186136	112186136	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:112186136G>A	uc001tsq.2	+	17	2701	c.2501G>A	c.(2500-2502)CGT>CAT	p.R834H	ACAD10_uc001tsp.2_Missense_Mutation_p.R834H|ACAD10_uc009zvx.2_Missense_Mutation_p.R865H|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	834							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						CTGGATCCTCGTTGCCAACTC	0.532000												
C12orf51	283450	broad.mit.edu	37	12	112650376	112650376	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:112650376T>C	uc009zwc.2	-	42	6296	c.6278A>G	c.(6277-6279)TAC>TGC	p.Y2093C	C12orf51_uc001ttr.1_Missense_Mutation_p.Y268C	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GTATGTGAAGTACACCCGGCC	0.562000												
SRRM4	84530	broad.mit.edu	37	12	119594447	119594447	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:119594447A>C	uc001txa.1	+	13	1972	c.1680A>C	c.(1678-1680)AGA>AGC	p.R560S		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	560	Ser-rich.|Arg-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						ggagccggagacggagccgga	0.423000												
RPLP0	6175	broad.mit.edu	37	12	120636777	120636777	+	Silent	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:120636777G>T	uc001txp.2	-	5	582	c.345C>A	c.(343-345)GCC>GCA	p.A115A	RPLP0_uc001txq.2_Silent_p.A115A|RPLP0_uc001txr.2_Silent_p.A115A|uc001txs.1_5'Flank	NM_053275	NP_444505	P05388	RLA0_HUMAN	ribosomal protein P0	115					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGGGGCAATGGCACCAGCAC	0.517000												
RNF10	9921	broad.mit.edu	37	12	121002881	121002881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:121002881C>T	uc001typ.3	+	11	2155	c.1672C>T	c.(1672-1674)CGA>TGA	p.R558*	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Nonsense_Mutation_p.R469*	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	558					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTAGGATGTTCGACAGCGTCA	0.453000												
SBNO1	55206	broad.mit.edu	37	12	123782547	123782547	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:123782547C>T	uc010tap.1	-	30	4017	c.4017G>A	c.(4015-4017)ACG>ACA	p.T1339T	SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Silent_p.T1338T|SBNO1_uc010taq.1_Silent_p.T290T	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1339							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)		GCCCATCTTCCGTTCTTAGCC	0.428000												
UBC	7316	broad.mit.edu	37	12	125397684	125397684	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:125397684T>C	uc001ugs.3	-	2	1082	c.634A>G	c.(634-636)AAC>GAC	p.N212D	UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.N212D|UBC_uc001ugt.2_Missense_Mutation_p.N212D|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Missense_Mutation_p.N60D	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	212	Ubiquitin-like 3.				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|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TTCTGGATGTTGTAGTCAGAC	0.498000												
ANKLE2	23141	broad.mit.edu	37	12	133331306	133331306	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:133331306A>G	uc001ukx.2	-	2	662	c.595T>C	c.(595-597)TAC>CAC	p.Y199H	ANKLE2_uc001uky.3_Missense_Mutation_p.Y137H	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	199						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ACCCCATAGTACAGGGGCGGC	0.577000												
EFHA1	221154	broad.mit.edu	37	13	22141028	22141028	+	Missense_Mutation	SNP	C	C	T	rs138030448		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:22141028C>T	uc001uof.2	-	2	288	c.266G>A	c.(265-267)CGC>CAC	p.R89H		NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	89							calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		CTGCATGAAGCGCTGCTTACG	0.348000												
ATP12A	479	broad.mit.edu	37	13	25265211	25265211	+	Silent	SNP	G	G	A	rs61739266	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:25265211G>A	uc001upp.2	+	8	1078	c.891G>A	c.(889-891)ACG>ACA	p.T297T	ATP12A_uc010aaa.2_Silent_p.T303T	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	297	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ATGAGAAGACGCCCATTGCCA	0.522000												
NUPL1	9818	broad.mit.edu	37	13	25882001	25882001	+	Silent	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:25882001T>C	uc001uqi.2	+	2	411	c.165T>C	c.(163-165)ACT>ACC	p.T55T	NUPL1_uc001uqg.1_Silent_p.T55T|NUPL1_uc001uqj.2_Silent_p.T55T	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	55	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore					0		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CTCCAGCAACTACATCTGCTC	0.423000												
MTUS2	23281	broad.mit.edu	37	13	29855999	29855999	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:29855999G>A	uc001usl.3	+	4	2891	c.2833G>A	c.(2833-2835)GCT>ACT	p.A945T		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	935	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						TTCCACACCCGCTGGTAAGAC	0.542000												
ENOX1	55068	broad.mit.edu	37	13	43930092	43930092	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:43930092C>T	uc001uza.3	-	8	1086	c.786G>A	c.(784-786)TCG>TCA	p.S262S	ENOX1_uc001uzb.3_Silent_p.S262S|ENOX1_uc001uzc.3_Silent_p.S262S|ENOX1_uc001uyz.3_5'UTR|ENOX1_uc010tfm.1_Silent_p.S75S	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	262					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CTTCGTGCTCCGAGTAGTGCA	0.637000												
SLC25A30	253512	broad.mit.edu	37	13	45983139	45983139	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:45983139C>A	uc001vag.2	-	3	272	c.135G>T	c.(133-135)AAG>AAT	p.K45N	SLC25A30_uc010tfs.1_Intron|SLC25A30_uc001vah.2_Intron|SLC25A30_uc010tft.1_Translation_Start_Site	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	45	Solcar 1.				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		ATCTAATTTCCTTAAATTTTG	0.398000												
PCDH8	5100	broad.mit.edu	37	13	53422116	53422116	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:53422116C>T	uc001vhi.2	-	1	659	c.456G>A	c.(454-456)ACG>ACA	p.T152T	PCDH8_uc001vhj.2_Silent_p.T152T	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	152	Extracellular (Potential).|Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGGGGATGCGCGTGCCCACTG	0.711000												
SLITRK5	26050	broad.mit.edu	37	13	88330333	88330333	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:88330333G>A	uc001vln.2	+	2	2909	c.2690G>A	c.(2689-2691)CGC>CAC	p.R897H	SLITRK5_uc010tic.1_Missense_Mutation_p.R656H	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	897	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACCTGAGACGCCCCCATCAG	0.617000												
FAM155A	728215	broad.mit.edu	37	13	108518596	108518596	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:108518596C>T	uc001vql.2	-	1	865	c.349G>A	c.(349-351)GCC>ACC	p.A117T		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	117						integral to membrane	binding			skin(1)	1						TGTGCCTGGGCGGCGGGCGAG	0.562000												
MCF2L	23263	broad.mit.edu	37	13	113740490	113740490	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:113740490C>T	uc001vsu.2	+	21	2493	c.2471C>T	c.(2470-2472)GCG>GTG	p.A824V	MCF2L_uc001vsq.2_Missense_Mutation_p.A824V|MCF2L_uc010tjr.1_Missense_Mutation_p.A767V|MCF2L_uc001vsr.2_Missense_Mutation_p.A771V|MCF2L_uc001vss.3_Missense_Mutation_p.A765V|MCF2L_uc010tjs.1_Missense_Mutation_p.A765V|MCF2L_uc001vst.1_Missense_Mutation_p.A729V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	797	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)				CTGCAGGAGGCGCTGAGCTCC	0.627000												
ATP4B	496	broad.mit.edu	37	13	114312428	114312428	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:114312428C>T	uc001vtz.2	-	1	74	c.32G>A	c.(31-33)GGC>GAC	p.G11D	ATP4B_uc010agy.1_Missense_Mutation_p.G11D	NM_000705	NP_000696	P51164	ATP4B_HUMAN	hydrogen/potassium-exchanging ATPase 4B	11	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			ovary(1)	1	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;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	CATGCGCTGGCCACACGTCTT	0.677000												
FAM70B	348013	broad.mit.edu	37	13	114504642	114504642	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:114504642G>A	uc001vuh.2	+	7	553	c.526G>A	c.(526-528)GCC>ACC	p.A176T		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	176						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GCCCTCGCCCGCCTACTATGA	0.632000												
TEP1	7011	broad.mit.edu	37	14	20842664	20842664	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:20842664A>G	uc001vxe.2	-	44	6435	c.6395T>C	c.(6394-6396)CTC>CCC	p.L2132P	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Missense_Mutation_p.L1475P|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.L2024P|TEP1_uc010tlh.1_Missense_Mutation_p.L470P	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2132	WD 12.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGTCCCAGAGCCCCACAGA	0.537000												
METT11D1	64745	broad.mit.edu	37	14	21464375	21464375	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:21464375A>G	uc001vyn.2	+	12	1201	c.1004A>G	c.(1003-1005)CAT>CGT	p.H335R	METT11D1_uc001vym.2_Missense_Mutation_p.H335R|METT11D1_uc001vyo.2_Missense_Mutation_p.H335R|METT11D1_uc001vyp.2_Missense_Mutation_p.H177R|METT11D1_uc001vyq.2_Missense_Mutation_p.H177R	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	335					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CAGTGTCCCCATGAACTCCCT	0.478000												
SUPT16H	11198	broad.mit.edu	37	14	21833073	21833073	+	Silent	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:21833073T>C	uc001wao.2	-	10	1485	c.1146A>G	c.(1144-1146)GGA>GGG	p.G382G		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	382					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGTCTGAGAATCCTAAATTGA	0.428000												
PRMT5	10419	broad.mit.edu	37	14	23392040	23392040	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:23392040T>C	uc001whm.1	-	14	1581	c.1490A>G	c.(1489-1491)CAG>CGG	p.Q497R	PRMT5_uc001whl.1_Missense_Mutation_p.Q480R|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.Q391R|PRMT5_uc010tng.1_Missense_Mutation_p.Q436R|PRMT5_uc010tnh.1_Missense_Mutation_p.Q453R|PRMT5_uc001whn.1_Missense_Mutation_p.Q326R	NM_006109	NP_006100	O14744	ANM5_HUMAN	protein arginine methyltransferase 5 isoform a	497					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			ovary(1)	1	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CATCTCAAACTGGGCCTGTCA	0.483000												
LRRC16B	90668	broad.mit.edu	37	14	24534215	24534215	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:24534215G>A	uc001wlj.2	+	33	3286	c.3129G>A	c.(3127-3129)CCG>CCA	p.P1043P	LRRC16B_uc001wlk.2_Silent_p.P139P	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1043										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CGGAGGCACCGCTGCCTCCAC	0.647000												
RNF31	55072	broad.mit.edu	37	14	24619997	24619997	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:24619997G>A	uc001wmn.1	+	8	1637	c.1388G>A	c.(1387-1389)CGA>CAA	p.R463Q	RNF31_uc001wml.1_Missense_Mutation_p.R312Q|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.R278Q|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	463	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		GGGCCCCCACGACGCCTTAGT	0.612000												
CTSG	1511	broad.mit.edu	37	14	25042973	25042973	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:25042973C>G	uc001wpq.2	-	5	675	c.638G>C	c.(637-639)GGC>GCC	p.G213A		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	213	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		GGAGACGATGCCGTGGGCCAC	0.557000												
MIA2	117153	broad.mit.edu	37	14	39722040	39722040	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:39722040G>A	uc001wux.2	+	5	1850	c.1656G>A	c.(1654-1656)TCG>TCA	p.S552S		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATGAAAATTCGAAACCATCAG	0.378000												
LRFN5	145581	broad.mit.edu	37	14	42356114	42356114	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:42356114G>A	uc001wvm.2	+	3	1484	c.286G>A	c.(286-288)GCT>ACT	p.A96T	LRFN5_uc010ana.2_Missense_Mutation_p.A96T	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	96	Extracellular (Potential).|LRR 2.					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)		TCATGCTTTCGCTGACCTACG	0.348000										HNSCC(30;0.082)		
SOS2	6655	broad.mit.edu	37	14	50616749	50616749	+	Silent	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:50616749T>C	uc001wxs.3	-	14	2459	c.2361A>G	c.(2359-2361)ACA>ACG	p.T787T	SOS2_uc010tql.1_Silent_p.T754T|SOS2_uc010tqm.1_RNA	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	787	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)					ACTCCAAAAGTGTCAGCTGAC	0.353000												
BMP4	652	broad.mit.edu	37	14	54417102	54417102	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:54417102C>T	uc001xal.3	-	3	1062	c.875G>A	c.(874-876)CGT>CAT	p.R292H	BMP4_uc010aoh.2_Missense_Mutation_p.R292H|BMP4_uc001xao.3_Missense_Mutation_p.R292H|BMP4_uc001xan.3_Missense_Mutation_p.R292H	NM_130851	NP_570912	P12644	BMP4_HUMAN	bone morphogenetic protein 4 preproprotein	292					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity				0						CTTAGGGCTACGCTTGGCCCT	0.627000												
NAA30	122830	broad.mit.edu	37	14	57863536	57863536	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:57863536C>T	uc001xcx.3	+	3	992	c.838C>T	c.(838-840)CGC>TGC	p.R280C	NAA30_uc010trk.1_Missense_Mutation_p.R22C|NAA30_uc010aow.2_RNA	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	N-acetyltransferase 12	280	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			skin(1)	1						AAAGATGTTCCGCAGAGGTTA	0.373000												
C14orf135	64430	broad.mit.edu	37	14	60582091	60582091	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:60582091G>A	uc001xer.3	+	3	1089	c.567G>A	c.(565-567)CCG>CCA	p.P189P	C14orf135_uc001xeq.2_Silent_p.P189P|C14orf135_uc010apm.2_5'Flank	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	423						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		CCTTTTATCCGAAGGATGTGC	0.353000												
TRMT5	57570	broad.mit.edu	37	14	61446378	61446378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:61446378G>A	uc001xff.3	-	2	329	c.238C>T	c.(238-240)CGA>TGA	p.R80*	SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	80						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			central_nervous_system(2)|large_intestine(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		GTCATGCCTCGGACATCAGAA	0.378000												
SYT16	83851	broad.mit.edu	37	14	62567283	62567283	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:62567283G>A	uc001xfu.1	+	6	1993	c.1796G>A	c.(1795-1797)CGT>CAT	p.R599H	SYT16_uc010tse.1_Missense_Mutation_p.R157H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	599	C2 2.									central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TATAACAGGCGTACTATGAAG	0.488000												
SYNE2	23224	broad.mit.edu	37	14	64469920	64469920	+	Silent	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:64469920T>G	uc001xgm.2	+	30	4499	c.4269T>G	c.(4267-4269)ACT>ACG	p.T1423T	SYNE2_uc001xgl.2_Silent_p.T1423T	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1423	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)		AGGAATTCACTGAGGAAAACA	0.373000												
GPHN	10243	broad.mit.edu	37	14	67578617	67578617	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:67578617C>T	uc001xiy.2	+	14	2475	c.1354C>T	c.(1354-1356)CGG>TGG	p.R452W	GPHN_uc001xix.2_Missense_Mutation_p.R485W|GPHN_uc010tss.1_Missense_Mutation_p.R498W|GPHN_uc010tst.1_Missense_Mutation_p.R421W|GPHN_uc010tsu.1_Missense_Mutation_p.R375W	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	452	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GGTGCAAGCTCGGCCAGGCCA	0.383000			T	MLL	AL							
PAPLN	89932	broad.mit.edu	37	14	73718836	73718836	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:73718836G>A	uc010ttx.1	+	9	1117	c.954G>A	c.(952-954)GCG>GCA	p.A318A	PAPLN_uc001xnw.3_Silent_p.A291A|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.A318A	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	318	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ACTGCAGCGCGGAGTGTGGCG	0.697000												
HEATR4	399671	broad.mit.edu	37	14	73989272	73989272	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:73989272A>G	uc010tub.1	-	3	907	c.585T>C	c.(583-585)CCT>CCC	p.P195P	HEATR4_uc010tua.1_Silent_p.P148P	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CCTCCTTCTCAGGAGGCAGAA	0.592000												
C14orf115	55237	broad.mit.edu	37	14	74823805	74823805	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:74823805C>T	uc001xpw.3	+	2	510	c.319C>T	c.(319-321)CGC>TGC	p.R107C		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	107					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		GCTGCGGGCCCGCACCGTGGT	0.642000												
LTBP2	4053	broad.mit.edu	37	14	74978021	74978021	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:74978021G>A	uc001xqa.2	-	19	3342	c.2955C>T	c.(2953-2955)TGC>TGT	p.C985C		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	985	EGF-like 7; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGAATTGACGCATCTCCCAT	0.592000												
ALKBH1	8846	broad.mit.edu	37	14	78146294	78146294	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:78146294G>A	uc001xuc.1	-	4	484	c.475C>T	c.(475-477)CGG>TGG	p.R159W	ALKBH1_uc001xud.1_RNA	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	alkylated DNA repair protein alkB homolog	159					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)|skin(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CGGGGTCTCCGTTTAGTCGCT	0.398000												
STON2	85439	broad.mit.edu	37	14	81743821	81743821	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:81743821G>A	uc010tvu.1	-	4	2035	c.1834C>T	c.(1834-1836)CGC>TGC	p.R612C	STON2_uc001xvk.1_Missense_Mutation_p.R612C|STON2_uc010tvt.1_Missense_Mutation_p.R409C	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	612	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGCCCAGGCGGCACTCTGCG	0.517000												
FOXN3	1112	broad.mit.edu	37	14	89628970	89628970	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:89628970G>A	uc001xxo.3	-	7	1398	c.1261C>T	c.(1261-1263)CGC>TGC	p.R421C	FOXN3_uc001xxn.3_Missense_Mutation_p.R399C|FOXN3_uc010atk.2_Missense_Mutation_p.R399C	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	421					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(2)|ovary(1)	3						AAGTGCTGGCGCTTCTTGTGC	0.612000												
CCDC88C	440193	broad.mit.edu	37	14	91787575	91787575	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:91787575A>G	uc010aty.2	-	13	1515	c.1416T>C	c.(1414-1416)AAT>AAC	p.N472N		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	472	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				GGAGGCTCTGATTCTCCTTCT	0.597000												
ATXN3	4287	broad.mit.edu	37	14	92560113	92560113	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:92560113A>G	uc001yac.3	-	4	366	c.297T>C	c.(295-297)TAT>TAC	p.Y99Y	ATXN3_uc010aug.2_Silent_p.Y84Y|ATXN3_uc001yad.3_Silent_p.Y44Y|ATXN3_uc010auh.2_Intron|ATXN3_uc001yae.3_Intron|ATXN3_uc010twl.1_Intron	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	99	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TGAGCCTCTGATACTCTGGAC	0.328000												
KIAA1409	57578	broad.mit.edu	37	14	94044213	94044213	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:94044213G>A	uc001ybv.1	+	15	1789	c.1706G>A	c.(1705-1707)CGA>CAA	p.R569Q	KIAA1409_uc001ybs.1_Missense_Mutation_p.R569Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	746						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)		GATCCTGGCCGACGAGTTCAG	0.443000												
BCL11B	64919	broad.mit.edu	37	14	99641438	99641438	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:99641438C>T	uc001yga.2	-	4	2002	c.1735G>A	c.(1735-1737)GCG>ACG	p.A579T	BCL11B_uc001ygb.2_Missense_Mutation_p.A508T	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	579	Gly-rich.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ccgccccccgcgcccgggacc	0.552000			T	TLX3	T-ALL							
HHIPL1	84439	broad.mit.edu	37	14	100119154	100119154	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:100119154C>T	uc010avs.2	+	2	914	c.849C>T	c.(847-849)AGC>AGT	p.S283S	HHIPL1_uc001ygl.1_Silent_p.S283S	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	HHIP-like protein 1 isoform a	283					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			skin(2)	2		Melanoma(154;0.128)				TCCGCATCAGCGAGTTCAGAG	0.617000												
AHNAK2	113146	broad.mit.edu	37	14	105418203	105418203	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:105418203G>A	uc010axc.1	-	7	3705	c.3585C>T	c.(3583-3585)GCC>GCT	p.A1195A	AHNAK2_uc001ypx.2_Silent_p.A1095A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1195						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)			GACTCACGTCGGCCTCCACTT	0.622000												
MAGEL2	54551	broad.mit.edu	37	15	23890708	23890708	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:23890708G>A	uc001ywj.3	-	1	468	c.373C>T	c.(373-375)CGC>TGC	p.R125C		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)		GAGCCCCTGCGGTCTATAGAA	0.597000												
OCA2	4948	broad.mit.edu	37	15	28273201	28273201	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:28273201G>A	uc001zbh.3	-	4	441	c.331C>T	c.(331-333)CGG>TGG	p.R111W	OCA2_uc010ayv.2_Missense_Mutation_p.R111W	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	111	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGTATGCACCGTGACCTGGAA	0.488000									Oculocutaneous_Albinism			
OTUD7A	161725	broad.mit.edu	37	15	31822980	31822980	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:31822980C>T	uc001zfq.2	-	4	675	c.582G>A	c.(580-582)ACG>ACA	p.T194T	OTUD7A_uc001zfr.2_Silent_p.T194T	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	194	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTTTACAGCTCGTGCACACAG	0.547000												
OTUD7A	161725	broad.mit.edu	37	15	31823008	31823008	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:31823008C>T	uc001zfq.2	-	4	647	c.554G>A	c.(553-555)CGC>CAC	p.R185H	OTUD7A_uc001zfr.2_Missense_Mutation_p.R185H	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	185	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCAGTTCAGGCGACCTGGAAA	0.517000												
GJD2	57369	broad.mit.edu	37	15	35044979	35044979	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:35044979G>A	uc001zis.1	-	2	666	c.666C>T	c.(664-666)GGC>GGT	p.G222G	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	222	Extracellular (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GGACACTAAAGCCATAGAGAA	0.488000												
SPRED1	161742	broad.mit.edu	37	15	38643327	38643327	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:38643327T>C	uc001zka.3	+	7	1132	c.797T>C	c.(796-798)ATG>ACG	p.M266T		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	266	KBD.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CATCCTGACATGTGGAAAAAT	0.393000									Legius_syndrome			
BUB1B	701	broad.mit.edu	37	15	40468681	40468681	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:40468681C>T	uc001zkx.3	+	5	600	c.388C>T	c.(388-390)CGT>TGT	p.R130C	BUB1B_uc010ucl.1_5'UTR	NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	130	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTTACAGGGGCGTTTATGCAA	0.398000			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome			
IVD	3712	broad.mit.edu	37	15	40703479	40703479	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:40703479C>T	uc001zls.3	+	5	820	c.486C>T	c.(484-486)ATC>ATT	p.I162I	IVD_uc001zlq.2_Silent_p.I132I	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	159					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GTGAGTACATCGGAGCCCTGG	0.532000												
MGA	23269	broad.mit.edu	37	15	42032360	42032360	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:42032360G>T	uc010ucy.1	+	14	4725	c.4544G>T	c.(4543-4545)GGG>GTG	p.G1515V	MGA_uc010ucz.1_Missense_Mutation_p.G1515V|MGA_uc010uda.1_Missense_Mutation_p.G131V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	1515						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATCGCCCTGGGAAGAATCTG	0.512000												
SPTBN5	51332	broad.mit.edu	37	15	42167792	42167792	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:42167792G>T	uc001zos.2	-	22	4379	c.4046C>A	c.(4045-4047)CCC>CAC	p.P1349H		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1384	Spectrin 10.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGGCCACAGGGCCTCCTACT	0.597000												
MYO9A	4649	broad.mit.edu	37	15	72146864	72146864	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:72146864C>T	uc002atl.3	-	35	6673	c.6200G>A	c.(6199-6201)CGT>CAT	p.R2067H	MYO9A_uc002atj.2_5'UTR|MYO9A_uc002atk.2_Missense_Mutation_p.R862H	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	2067	Tail.|Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						ACTGGTCAAACGGGACAGTTC	0.368000												
PML	5371	broad.mit.edu	37	15	74325013	74325013	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:74325013T>C	uc002awv.2	+	5	1495	c.1355T>C	c.(1354-1356)GTG>GCG	p.V452A	PML_uc002awm.2_Missense_Mutation_p.V452A|PML_uc002awl.2_Intron|PML_uc002awj.1_Intron|PML_uc002awk.2_Missense_Mutation_p.V452A|PML_uc002awn.2_Missense_Mutation_p.V452A|PML_uc002awo.2_Intron|PML_uc002awp.2_Intron|PML_uc002awq.2_Missense_Mutation_p.V452A|PML_uc002awr.2_Missense_Mutation_p.V452A|PML_uc002aws.2_Intron|PML_uc002awt.2_Intron|PML_uc002awu.2_Intron|PML_uc010ule.1_Missense_Mutation_p.V13A|PML_uc002awx.2_Intron|PML_uc002awy.2_Intron	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	452					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						GCACACCCCGTGCCAGTGTAC	0.627000			T	RARA|PAX5	APL|ALL							
ADAMTS7	11173	broad.mit.edu	37	15	79059752	79059752	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:79059752G>A	uc002bej.3	-	18	3039	c.2828C>T	c.(2827-2829)CCG>CTG	p.P943L	ADAMTS7_uc010und.1_Intron	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	943	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CCAGGTGGCCGGACAGGGTAC	0.657000												
ADAMTS7	11173	broad.mit.edu	37	15	79089073	79089073	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:79089073C>T	uc002bej.3	-	4	889	c.678G>A	c.(676-678)CGG>CGA	p.R226R	ADAMTS7_uc010und.1_Silent_p.R226R|ADAMTS7_uc002bek.1_Silent_p.R226R	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	226					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						gccgtggccgccgccactgct	0.433000												
ADAMTS7	11173	broad.mit.edu	37	15	79090417	79090417	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:79090417A>G	uc002bej.3	-	3	706	c.495T>C	c.(493-495)ATT>ATC	p.I165I	ADAMTS7_uc010und.1_Silent_p.I165I|ADAMTS7_uc002bek.1_Silent_p.I165I	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	165					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CCAGGGGCTCAATGAAGTAGT	0.642000												
ARNT2	9915	broad.mit.edu	37	15	80885987	80885987	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:80885987A>G	uc002bfr.2	+	19	2268	c.2102A>G	c.(2101-2103)TAT>TGT	p.Y701C	ARNT2_uc010unm.1_Missense_Mutation_p.Y690C|ARNT2_uc002bfs.2_Missense_Mutation_p.Y690C	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	701					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)			ACTGGCAACTATAACATCGAA	0.567000												
FANCI	55215	broad.mit.edu	37	15	89807836	89807836	+	Silent	SNP	C	C	T	rs151169233	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:89807836C>T	uc010bnp.1	+	9	843	c.753C>T	c.(751-753)GAC>GAT	p.D251D	FANCI_uc002bnm.1_Silent_p.D251D|FANCI_uc002bnn.1_RNA|FANCI_uc002bno.2_Silent_p.D251D|FANCI_uc002bnp.1_Silent_p.D72D	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	251					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGAGTGGTGACGAGTGAGTAA	0.363000								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
C15orf58	390637	broad.mit.edu	37	15	90785087	90785087	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:90785087G>A	uc002bpc.2	+	4	1126	c.947G>A	c.(946-948)CGG>CAG	p.R316Q		NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	hypothetical protein LOC390637	316					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				0						CTGTGGGCCCGGAAGTCCAGC	0.557000												
IGF1R	3480	broad.mit.edu	37	15	99452112	99452112	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:99452112C>T	uc002bul.2	+	6	1496	c.1446C>T	c.(1444-1446)AAC>AAT	p.N482N	IGF1R_uc010urq.1_Silent_p.N482N|IGF1R_uc010bon.2_Silent_p.N482N|IGF1R_uc010urr.1_5'Flank	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	482					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCAGGAACAACGGGGAGAGAG	0.512000												
TM2D3	80213	broad.mit.edu	37	15	102182749	102182749	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:102182749G>A	uc002bxi.2	-	6	707	c.677C>T	c.(676-678)ACG>ATG	p.T226M	TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_Missense_Mutation_p.T161M|TM2D3_uc002bxj.2_Missense_Mutation_p.T200M|TM2D3_uc002bxk.2_Missense_Mutation_p.T161M	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3 isoform a	226	Helical; (Potential).					integral to membrane				ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCTATCAGCGTCCATATTCC	0.557000												
PDIA2	64714	broad.mit.edu	37	16	335551	335551	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:335551C>T	uc002cgn.1	+	12	2075	c.967C>T	c.(967-969)CTG>TTG	p.L323L	PDIA2_uc010bqt.1_Silent_p.L168L|PDIA2_uc002cgo.1_Silent_p.L323L	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	323					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TGAGCACGTGCTGCAGTACTT	0.627000												
RHBDL1	9028	broad.mit.edu	37	16	726836	726836	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:726836C>T	uc002cis.1	+	2	588	c.561C>T	c.(559-561)TAC>TAT	p.Y187Y	RHBDL1_uc002cir.1_Silent_p.Y122Y|RHBDL1_uc010uun.1_Silent_p.Y122Y	NM_003961	NP_003952	O75783	RHBL1_HUMAN	rhomboid protease 1	187					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.0218)				GCCGCTGGTACTTCTACCGTC	0.687000												
WDR24	84219	broad.mit.edu	37	16	737628	737628	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:737628C>T	uc002ciz.1	-	2	1353	c.593G>A	c.(592-594)CGG>CAG	p.R198Q		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				CCTCTCGCACCGGTCGGGACG	0.627000												
CACNA1H	8912	broad.mit.edu	37	16	1270310	1270310	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:1270310C>T	uc002cks.2	+	35	6626	c.6378C>T	c.(6376-6378)GCC>GCT	p.A2126A	CACNA1H_uc002ckt.2_Silent_p.A2120A|CACNA1H_uc002cku.2_Silent_p.A821A|CACNA1H_uc010brj.2_Silent_p.A837A|CACNA1H_uc002ckv.2_Silent_p.A815A	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2126	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)	CTCCGGTGGCCGGCGGCGAGC	0.736000												
CLCN7	1186	broad.mit.edu	37	16	1524892	1524892	+	Silent	SNP	C	C	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:1524892C>G	uc002clv.2	-	1	194	c.84G>C	c.(82-84)GCG>GCC	p.A28A	CLCN7_uc002clw.2_Silent_p.A28A	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	28	Cytoplasmic (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				CGCCGGGCCGCGCCGTCCTCC	0.771000												
PKD1	5310	broad.mit.edu	37	16	2140034	2140034	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:2140034G>A	uc002cos.1	-	46	12815	c.12606C>T	c.(12604-12606)GGC>GGT	p.G4202G	PKD1_uc002cot.1_Silent_p.G4201G	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4202	Cytoplasmic (Potential).				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						TCCCCAGCCGGCCCAGGCTCA	0.682000												
CASKIN1	57524	broad.mit.edu	37	16	2229836	2229836	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:2229836C>T	uc010bsg.1	-	18	3565	c.3533G>A	c.(3532-3534)CGC>CAC	p.R1178H		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1178	Pro-rich.				signal transduction	cytoplasm				skin(2)	2						CGGTCGGCGGCGCACGGTGCC	0.726000												
MLST8	64223	broad.mit.edu	37	16	2256622	2256622	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:2256622G>A	uc002coz.2	+	4	425	c.306G>A	c.(304-306)ACG>ACA	p.T102T	MLST8_uc002coy.2_Silent_p.T102T|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Silent_p.T101T|MLST8_uc010uvx.1_Silent_p.T36T|MLST8_uc002cpc.2_Silent_p.T102T|MLST8_uc002cpd.2_Silent_p.T36T|MLST8_uc002cpe.2_Silent_p.T102T|MLST8_uc010uvy.1_Silent_p.T102T|MLST8_uc002cpg.2_Silent_p.T121T|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Silent_p.T102T	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	G protein beta subunit-like	102	WD 3.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding				0						GGATGTACACGGGCGGCGAGG	0.622000												
E4F1	1877	broad.mit.edu	37	16	2282763	2282763	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:2282763G>A	uc002cpm.2	+	6	785	c.737G>A	c.(736-738)CGC>CAC	p.R246H	E4F1_uc010bsi.2_Missense_Mutation_p.R246H|E4F1_uc010bsj.2_Missense_Mutation_p.R246H	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	246	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GCAGATGAGCGCCCCTACAAG	0.642000												
CREBBP	1387	broad.mit.edu	37	16	3828749	3828749	+	Silent	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:3828749G>T	uc002cvv.2	-	9	2097	c.1893C>A	c.(1891-1893)GCC>GCA	p.A631A	CREBBP_uc002cvw.2_Silent_p.A593A	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	631	KIX.				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)		TCTTAGCATAGGCTACCAGGT	0.502000			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
USP7	7874	broad.mit.edu	37	16	8988969	8988969	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:8988969A>G	uc002czl.2	-	28	3157	c.2958T>C	c.(2956-2958)AAT>AAC	p.N986N	USP7_uc010uyk.1_Silent_p.N887N|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.N887N|USP7_uc002czk.2_Silent_p.N970N	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	986					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						CAAGCATCTCATTCTCTTTGT	0.493000												
C16orf72	29035	broad.mit.edu	37	16	9210617	9210617	+	Silent	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:9210617A>C	uc002czm.2	+	4	1041	c.676A>C	c.(676-678)AGA>CGA	p.R226R		NM_014117	NP_054836	Q14CZ0	CP072_HUMAN	hypothetical protein LOC29035	226										large_intestine(1)	1						TAGTCGAAGGAGAAATGGACT	0.478000												
RBBP6	5930	broad.mit.edu	37	16	24581781	24581781	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:24581781G>A	uc002dmh.2	+	17	4810	c.3770G>A	c.(3769-3771)GGA>GAA	p.G1257E	RBBP6_uc010vcb.1_Missense_Mutation_p.G1124E|RBBP6_uc002dmi.2_Missense_Mutation_p.G1223E|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.G1090E	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1257					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		AAAGTGACTGGAACTGAAGGA	0.408000												
CORO1A	11151	broad.mit.edu	37	16	30199821	30199821	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:30199821G>A	uc002dww.2	+	10	1327	c.1205G>A	c.(1204-1206)CGG>CAG	p.R402Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.R402Q|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Missense_Mutation_p.R296Q|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	402					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						CCAAAGAGCCGGGAGCTGAGG	0.701000												
ZNF689	115509	broad.mit.edu	37	16	30616471	30616471	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:30616471A>G	uc002dyx.2	-	3	937	c.617T>C	c.(616-618)GTT>GCT	p.V206A	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	206	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			CTGGTCACAAACATAGGGGCA	0.582000												
SETD1A	9739	broad.mit.edu	37	16	30991144	30991144	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:30991144C>T	uc002ead.1	+	14	4723	c.4037C>T	c.(4036-4038)GCG>GTG	p.A1346V		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1346	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						GTGGCTGAGGCGGAGGAGCCC	0.532000												
ITGAD	3681	broad.mit.edu	37	16	31405644	31405644	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:31405644T>C	uc002ebv.1	+	2	168	c.119T>C	c.(118-120)GTG>GCG	p.V40A	ITGAD_uc010vfl.1_Missense_Mutation_p.V40A|ITGAD_uc010cap.1_Missense_Mutation_p.V40A	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	40	Extracellular (Potential).|FG-GAP 1.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						CAGAGCGTGGTGCAGTTCGGT	0.562000												
N4BP1	9683	broad.mit.edu	37	16	48595876	48595876	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:48595876A>G	uc002efp.2	-	2	915	c.678T>C	c.(676-678)TCT>TCC	p.S226S		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	226					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				TTTCATCTCTAGAAATATTCA	0.408000												
SALL1	6299	broad.mit.edu	37	16	51173150	51173150	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:51173150G>A	uc010vgs.1	-	2	3014	c.2983C>T	c.(2983-2985)CGG>TGG	p.R995W	SALL1_uc010vgr.1_Missense_Mutation_p.R898W|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	995					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AATTTACCCCGGTCTCTAAAA	0.433000												
RBL2	5934	broad.mit.edu	37	16	53524074	53524074	+	Silent	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:53524074A>C	uc002ehi.3	+	22	3400	c.3282A>C	c.(3280-3282)ACA>ACC	p.T1094T	RBL2_uc002ehj.2_Silent_p.T804T|RBL2_uc010vgw.1_Silent_p.T473T	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1094					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						TGATACGCACAGGAGAAACTC	0.348000												
RSPRY1	89970	broad.mit.edu	37	16	57269043	57269043	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:57269043C>T	uc002elb.2	+	14	1815	c.1537C>T	c.(1537-1539)CGT>TGT	p.R513C	RSPRY1_uc002elc.2_Missense_Mutation_p.R513C|RSPRY1_uc002eld.2_Missense_Mutation_p.R513C	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	513						extracellular region	zinc ion binding			ovary(1)	1						CAGGCACAGGCGTCTTGCTCT	0.433000												
GPR97	222487	broad.mit.edu	37	16	57719834	57719834	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:57719834G>A	uc002emh.2	+	11	1639	c.1536G>A	c.(1534-1536)TTG>TTA	p.L512L	GPR97_uc010vhv.1_Silent_p.L392L|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_Silent_p.L120L	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	512	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						TCAACTCCTTGCAAGGTGAGG	0.592000												
PRSS54	221191	broad.mit.edu	37	16	58324946	58324946	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:58324946C>A	uc002enf.2	-	4	575	c.180G>T	c.(178-180)CAG>CAT	p.Q60H	PRSS54_uc002eng.2_Missense_Mutation_p.Q60H|PRSS54_uc010vie.1_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	60	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						ACTGGGAGTCCTGCAGCGACA	0.607000												
SETD6	79918	broad.mit.edu	37	16	58549965	58549965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:58549965C>T	uc002ens.2	+	2	357	c.298C>T	c.(298-300)CAG>TAG	p.Q100*	SETD6_uc010cdl.2_Nonsense_Mutation_p.Q100*|SETD6_uc002enr.2_Nonsense_Mutation_p.Q76*|SETD6_uc010cdm.2_RNA|SETD6_uc010vij.1_Nonsense_Mutation_p.Q24*	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	SET domain containing 6 isoform a	100	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			ovary(1)	1						GCTCCTGTCGCAGCACACCTG	0.612000												
CDH8	1006	broad.mit.edu	37	16	61761058	61761058	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:61761058G>A	uc002eog.1	-	9	1728	c.1476C>T	c.(1474-1476)AAC>AAT	p.N492N	CDH8_uc002eoh.2_Silent_p.N261N	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	492	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTCAGGGGCGTTGTCATTGA	0.393000												
CDH8	1006	broad.mit.edu	37	16	61851566	61851566	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:61851566C>T	uc002eog.1	-	7	1346	c.1094G>A	c.(1093-1095)CGC>CAC	p.R365H	CDH8_uc002eoh.2_Missense_Mutation_p.R134H	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	365	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCCACTGAAGCGTGGGTCAAT	0.468000												
KIAA0895L	653319	broad.mit.edu	37	16	67214240	67214240	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:67214240G>A	uc002ert.2	-	2	1049	c.274C>T	c.(274-276)CGG>TGG	p.R92W	KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'Flank|KIAA0895L_uc002eru.2_Missense_Mutation_p.R92W|EXOC3L_uc002erv.1_RNA	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	hypothetical protein LOC653319	92											0						CCACGCCCCCGCCGGCCAGTA	0.672000												
PLEKHG4	25894	broad.mit.edu	37	16	67321888	67321888	+	Missense_Mutation	SNP	G	G	A	rs56077142	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:67321888G>A	uc002eso.3	+	18	5726	c.3191G>A	c.(3190-3192)CGC>CAC	p.R1064H	PLEKHG4_uc002esp.3_Missense_Mutation_p.R871H|PLEKHG4_uc002esq.3_Missense_Mutation_p.R1064H|PLEKHG4_uc010cef.2_Missense_Mutation_p.R1064H|PLEKHG4_uc002ess.3_Missense_Mutation_p.R1064H|PLEKHG4_uc010ceg.2_Missense_Mutation_p.R983H	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	1064					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		ATCAACGACCGCACCGTCAAC	0.602000												
SLC12A4	6560	broad.mit.edu	37	16	67984960	67984960	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:67984960A>G	uc002euz.2	-	10	1442	c.1301T>C	c.(1300-1302)ATC>ACC	p.I434T	SLC12A4_uc010ceu.2_Missense_Mutation_p.I428T|SLC12A4_uc010vkh.1_Missense_Mutation_p.I403T|SLC12A4_uc010vki.1_Missense_Mutation_p.I434T|SLC12A4_uc010vkj.1_Missense_Mutation_p.I436T|SLC12A4_uc002eva.2_Missense_Mutation_p.I434T|SLC12A4_uc002evb.2_Intron	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	434					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCAGCCATGATGCCTCCAAA	0.582000												
CDH3	1001	broad.mit.edu	37	16	68716319	68716319	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:68716319G>A	uc002ewf.2	+	9	2243	c.1111G>A	c.(1111-1113)GGT>AGT	p.G371S	CDH3_uc010vli.1_Missense_Mutation_p.G316S	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	371	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TATCATGGGCGGTGACGACGG	0.602000												
LDHD	197257	broad.mit.edu	37	16	75146546	75146546	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:75146546C>T	uc002fdm.2	-	10	1359	c.1312G>A	c.(1312-1314)GCC>ACC	p.A438T	LDHD_uc002fdn.2_Missense_Mutation_p.A415T	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	438							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						AGTTCCTCGGCGTCATCAGGG	0.612000												
KCNG4	93107	broad.mit.edu	37	16	84256426	84256426	+	Silent	SNP	G	G	A	rs150509470		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:84256426G>A	uc010voc.1	-	3	1078	c.957C>T	c.(955-957)GAC>GAT	p.D319D		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	319						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						GCCTCTCGCCGTCCTCCGGGG	0.652000												
COTL1	23406	broad.mit.edu	37	16	84600458	84600458	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:84600458G>A	uc002fid.2	-	4	571	c.422C>T	c.(421-423)ACG>ATG	p.T141M	COTL1_uc002fie.2_3'UTR|COTL1_uc010chk.2_RNA|COTL1_uc002fif.1_RNA	NM_021149	NP_066972	Q14019	COTL1_HUMAN	coactosin-like 1	141						cytoplasm|cytoskeleton	actin binding|enzyme binding			skin(1)	1						GGGTTACTCCGTCTGGGCGTC	0.612000												
KIAA0513	9764	broad.mit.edu	37	16	85111120	85111120	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:85111120G>A	uc002fiu.2	+	6	884	c.664G>A	c.(664-666)GAA>AAA	p.E222K	KIAA0513_uc002fis.3_Missense_Mutation_p.E222K|KIAA0513_uc010voj.1_Missense_Mutation_p.E222K|KIAA0513_uc002fit.2_Missense_Mutation_p.E222K	NM_014732	NP_055547	O60268	K0513_HUMAN	hypothetical protein LOC9764	222						cytoplasm				breast(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.234)		CTGGCTGGCCGAAAAGAAGGA	0.617000												
FOXL1	2300	broad.mit.edu	37	16	86612522	86612522	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:86612522G>A	uc002fjr.2	+	1	408	c.193G>A	c.(193-195)GCG>ACG	p.A65T		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	65	Fork-head.				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1						GATCCAGGACGCGCCCGAGCA	0.662000												
KLHDC4	54758	broad.mit.edu	37	16	87742975	87742975	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:87742975C>G	uc002fki.2	-	10	1389	c.1343G>C	c.(1342-1344)GGG>GCG	p.G448A	KLHDC4_uc002fkh.1_RNA|KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Missense_Mutation_p.G417A|KLHDC4_uc002fkk.2_Missense_Mutation_p.G267A|KLHDC4_uc002fkl.2_Missense_Mutation_p.G391A|KLHDC4_uc010chu.1_Missense_Mutation_p.G267A	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	448	Kelch 6.									pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0283)		AAACATGCCCCCATAGACGTA	0.657000												
VPS53	55275	broad.mit.edu	37	17	465886	465886	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:465886G>A	uc002frn.2	-	14	1560	c.1413C>T	c.(1411-1413)TGC>TGT	p.C471C	VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Silent_p.C471C|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Silent_p.C442C|VPS53_uc002fro.2_Silent_p.C273C|VPS53_uc010cjp.1_Silent_p.C194C	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	471					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AGAGGTCGGCGCAGCTGGGGA	0.562000												
ABR	29	broad.mit.edu	37	17	959308	959308	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:959308C>T	uc002fsd.2	-	14	1638	c.1528G>A	c.(1528-1530)GTC>ATC	p.V510I	ABR_uc002fse.2_Missense_Mutation_p.V464I|ABR_uc010vqg.1_Missense_Mutation_p.V292I|ABR_uc002fsg.2_Missense_Mutation_p.V473I|ABR_uc002fsh.1_Intron	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	510	C2.				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	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCAGAGTGGACGATGACATGA	0.577000											OREG0024067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ABR	29	broad.mit.edu	37	17	973307	973307	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:973307G>A	uc002fsd.2	-	9	1028	c.918C>T	c.(916-918)GGC>GGT	p.G306G	ABR_uc002fse.2_Silent_p.G260G|ABR_uc010vqg.1_Silent_p.G88G|ABR_uc002fsg.2_Silent_p.G269G|ABR_uc002fsh.1_Silent_p.G190G	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	306	PH.				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	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCACCAGGAAGCCGTCCTTCA	0.627000												
PRPF8	10594	broad.mit.edu	37	17	1582418	1582418	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:1582418G>A	uc002fte.2	-	11	1606	c.1492C>T	c.(1492-1494)CGC>TGC	p.R498C		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	498						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TAGCCCTGGCGGCAAACCTGG	0.512000												
PRPF8	10594	broad.mit.edu	37	17	1585245	1585245	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:1585245C>T	uc002fte.2	-	5	636	c.522G>A	c.(520-522)CCG>CCA	p.P174P		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	174						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGTCCAAGGGCGGCTCCTCAT	0.517000												
OR3A1	4994	broad.mit.edu	37	17	3195643	3195643	+	Silent	SNP	G	G	A	rs144484709		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:3195643G>A	uc002fvh.1	-	1	234	c.234C>T	c.(232-234)AGC>AGT	p.S78S		NM_002550	NP_002541	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|central_nervous_system(1)	3						GAACAGTGACGCTGATGCACC	0.557000												
SMTNL2	342527	broad.mit.edu	37	17	4510711	4510711	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:4510711C>T	uc002fyf.1	+	8	1382	c.1315C>T	c.(1315-1317)CGC>TGC	p.R439C	SMTNL2_uc002fye.2_Missense_Mutation_p.R295C	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	439	CH.										0				READ - Rectum adenocarcinoma(115;0.0325)		GGTGATGGGCCGCAAGCCGGA	0.582000												
USP6	9098	broad.mit.edu	37	17	5041527	5041527	+	Missense_Mutation	SNP	C	C	T	rs139849858	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:5041527C>T	uc002gau.1	+	21	3267	c.1037C>T	c.(1036-1038)ACG>ATG	p.T346M	USP6_uc002gav.1_Missense_Mutation_p.T346M|USP6_uc010ckz.1_Translation_Start_Site|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	346					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						AGGGCCTCTACGAAGAAACTA	0.582000			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts							
NLGN2	57555	broad.mit.edu	37	17	7317671	7317671	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:7317671G>A	uc002ggt.1	+	3	590	c.517G>A	c.(517-519)GAC>AAC	p.D173N		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	173	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)				AGATATCCGTGACCCTGGGAA	0.622000												
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:7574003G>A	uc002gim.2	-	10	1218	c.1024C>T	c.(1024-1026)CGA>TGA	p.R342*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	342	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.		R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(49)|p.0?(7)|p.R342fs*3(5)|p.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAGCTCTCGGAACATCTCG	0.498000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:7574018G>A	uc002gim.2	-	10	1203	c.1009C>T	c.(1009-1011)CGC>TGC	p.R337C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205C|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	337	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTCGAAGCGCTCACGCCCA	0.448000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
DNAH2	146754	broad.mit.edu	37	17	7661896	7661896	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:7661896T>A	uc002giu.1	+	13	2149	c.2135T>A	c.(2134-2136)CTC>CAC	p.L712H		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	712	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CACCCGGGACTCAAGAAACTG	0.542000												
NTN1	9423	broad.mit.edu	37	17	8926196	8926196	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:8926196G>A	uc002glw.3	+	2	613	c.506G>A	c.(505-507)CGC>CAC	p.R169H		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	169	Laminin N-terminal.				apoptosis|axon guidance		protein binding				0						GACTACGGGCGCACGTGGGTG	0.632000												
GLP2R	9340	broad.mit.edu	37	17	9792953	9792953	+	Silent	SNP	C	C	T	rs151332857		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:9792953C>T	uc002gmd.1	+	13	1593	c.1593C>T	c.(1591-1593)TCC>TCT	p.S531S		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	531	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	GCAGCCTGTCCGAGTGCAGTG	0.637000												
MYH13	8735	broad.mit.edu	37	17	10214522	10214522	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:10214522C>T	uc002gmk.1	-	33	4644	c.4554G>A	c.(4552-4554)GAG>GAA	p.E1518E		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1518	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						CTGCAATCTGCTCAGTTAAGT	0.463000												
MYH13	8735	broad.mit.edu	37	17	10222453	10222453	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:10222453G>A	uc002gmk.1	-	27	3482	c.3392C>T	c.(3391-3393)ACG>ATG	p.T1131M		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1131	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GGCTCTGAGCGTGTGTTCCGC	0.557000												
MYOCD	93649	broad.mit.edu	37	17	12656201	12656201	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:12656201C>T	uc002gnn.2	+	10	1895	c.1596C>T	c.(1594-1596)ACC>ACT	p.T532T	MYOCD_uc002gno.2_Silent_p.T532T|MYOCD_uc002gnp.1_Silent_p.T436T|MYOCD_uc002gnq.2_Silent_p.T251T	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	532	Potential.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATGAACTCACCTGGAAACTCC	0.537000												
ELAC2	60528	broad.mit.edu	37	17	12896212	12896212	+	Missense_Mutation	SNP	C	C	T	rs147779718		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:12896212C>T	uc002gnz.3	-	24	2499	c.2404G>A	c.(2404-2406)GGC>AGC	p.G802S	ELAC2_uc002gnu.3_Missense_Mutation_p.G199S|ELAC2_uc002gnv.3_Missense_Mutation_p.G430S|ELAC2_uc002gnw.3_Missense_Mutation_p.G458S|ELAC2_uc002gnx.3_Missense_Mutation_p.G562S|ELAC2_uc010vvo.1_Missense_Mutation_p.G600S|ELAC2_uc010vvp.1_Missense_Mutation_p.G783S|ELAC2_uc010vvq.1_Missense_Mutation_p.G801S|ELAC2_uc010vvr.1_Missense_Mutation_p.G762S	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	elaC homolog 2 isoform 1	802					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding				0						TCCTCCAGGCCGCCTGCCAGC	0.662000									Hereditary_Prostate_Cancer			
MPRIP	23164	broad.mit.edu	37	17	17030057	17030057	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:17030057C>T	uc002gqu.1	+	4	365	c.309C>T	c.(307-309)TGC>TGT	p.C103C	MPRIP_uc002gqv.1_Silent_p.C103C	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	103	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding				0						TGAACCAGTGCACAGATGTGG	0.597000												
MPRIP	23164	broad.mit.edu	37	17	17062029	17062029	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:17062029C>T	uc002gqu.1	+	14	1815	c.1759C>T	c.(1759-1761)CGG>TGG	p.R587W	MPRIP_uc002gqv.1_Missense_Mutation_p.R587W|MPRIP_uc002gqw.1_Missense_Mutation_p.R342W	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	587	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding				0						GGAGCGTGCACGGAGGCGGGA	0.746000												
TMEM11	8834	broad.mit.edu	37	17	21101952	21101952	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:21101952C>T	uc002gyp.2	-	2	707	c.264G>A	c.(262-264)GCG>GCA	p.A88A	TMEM11_uc002gyq.2_3'UTR	NM_003876	NP_003867	P17152	TMM11_HUMAN	transmembrane protein 11	88	Helical; (Potential).				mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding				0						AGGCGGTGCCCGCCAGCACGG	0.622000												
TAOK1	57551	broad.mit.edu	37	17	27857552	27857552	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:27857552G>A	uc002hdz.1	+	18	2470	c.2276G>A	c.(2275-2277)CGG>CAG	p.R759Q	TAOK1_uc010wbe.1_Missense_Mutation_p.R611Q|TAOK1_uc010wbf.1_Missense_Mutation_p.R759Q	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	759	Potential.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			GTTCTGAAACGGCTCAAGGAG	0.438000												
OMG	4974	broad.mit.edu	37	17	29622153	29622153	+	Silent	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:29622153G>T	uc002hgj.2	-	2	1410	c.1197C>A	c.(1195-1197)ACC>ACA	p.T399T	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron	NM_002544	NP_002535	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein precursor	399	Ser/Thr-rich.				cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.?(2)		ovary(1)|central_nervous_system(1)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		ATAAGTTAAGGGTTGTGCTTT	0.413000												
ZNF830	91603	broad.mit.edu	37	17	33289068	33289068	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:33289068T>G	uc002hih.3	+	1	520	c.483T>G	c.(481-483)GAT>GAG	p.D161E	CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	coiled-coil domain containing 16	161					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)	1		Ovarian(249;0.17)				ATTATGAAGATgaggaggagg	0.438000												
TAF15	8148	broad.mit.edu	37	17	34171552	34171552	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:34171552G>A	uc002hkd.2	+	15	1335	c.1249G>A	c.(1249-1251)GGC>AGC	p.G417S	TAF15_uc002hkc.2_Missense_Mutation_p.G414S	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	417	Arg/Gly-rich.|2.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|lung(1)|skin(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		agaccgaggcggctatggtgg	0.244000			T	TEC|CHN1|ZNF384	extraskeletal myxoid chondrosarcomas|ALL							
THRA	7067	broad.mit.edu	37	17	38244713	38244713	+	Silent	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:38244713G>T	uc002htw.2	+	8	1425	c.942G>T	c.(940-942)ACG>ACT	p.T314T	THRA_uc010cwp.1_Silent_p.T314T|THRA_uc002htv.2_Silent_p.T314T|THRA_uc002htx.2_Silent_p.T314T	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	314	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGATGACACGGAAGTGGCTC	0.572000												
KRT33B	3884	broad.mit.edu	37	17	39520144	39520144	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:39520144T>G	uc002hwl.2	-	7	1204	c.1159A>C	c.(1159-1161)ACC>CCC	p.T387P		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	387	Tail.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				CAAGGATTGGTGACACAGGAT	0.547000												
DHX58	79132	broad.mit.edu	37	17	40256795	40256795	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:40256795A>G	uc002hyw.3	-	11	1775	c.1552T>C	c.(1552-1554)TAC>CAC	p.Y518H	DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Missense_Mutation_p.Y511H	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	518	Potential.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTGGCCTGGTACTCGGCCTGG	0.637000												
PLEKHH3	79990	broad.mit.edu	37	17	40825735	40825735	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:40825735G>A	uc002iau.2	-	4	883	c.416C>T	c.(415-417)GCG>GTG	p.A139V	PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.A139V	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	139	PH.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GAGACGCCGCGCCCCTTTCCC	0.711000												
BRCA1	672	broad.mit.edu	37	17	41245719	41245719	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:41245719C>A	uc002icq.2	-	10	2061	c.1829G>T	c.(1828-1830)AGG>ATG	p.R610M	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R539M|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R563M|BRCA1_uc002ict.2_Missense_Mutation_p.R610M|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R610M|BRCA1_uc002ide.1_Missense_Mutation_p.R441M|BRCA1_uc010cyy.1_Missense_Mutation_p.R610M|BRCA1_uc010whs.1_Missense_Mutation_p.R610M|BRCA1_uc010cyz.2_Missense_Mutation_p.R563M|BRCA1_uc010cza.2_Missense_Mutation_p.R584M|BRCA1_uc010wht.1_Missense_Mutation_p.R314M	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	610					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTCCTCAGCCTATTCTTTTT	0.373000			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)		
RUNDC3A	10900	broad.mit.edu	37	17	42390848	42390848	+	Silent	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:42390848T>G	uc002igl.3	+	4	709	c.435T>G	c.(433-435)GCT>GCG	p.A145A	RUNDC3A_uc002igi.2_Silent_p.A145A|RUNDC3A_uc002igj.2_Silent_p.A140A|RUNDC3A_uc002igk.2_Silent_p.A141A	NM_001144825	NP_001138297	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A isoform 1	145	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity				0		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCACCACGGCTCTGCGTGACA	0.562000												
KIF18B	146909	broad.mit.edu	37	17	43008980	43008980	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:43008980G>A	uc010wji.1	-	11	1644	c.1543C>T	c.(1543-1545)CGT>TGT	p.R515C	KIF18B_uc002iht.2_Missense_Mutation_p.R515C|KIF18B_uc010wjh.1_Missense_Mutation_p.R503C	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				TGCTTAGAACGGTCCCCATCC	0.567000												
MAP3K14	9020	broad.mit.edu	37	17	43364390	43364390	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:43364390C>T	uc002iiw.1	-	5	668	c.559G>A	c.(559-561)GCC>ACC	p.A187T	MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	187					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						ACATATGGGGCGCCGAGTGGA	0.597000												
NFE2L1	4779	broad.mit.edu	37	17	46135782	46135782	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:46135782G>A	uc002imz.3	+	6	1749	c.1098G>A	c.(1096-1098)GCG>GCA	p.A366A	NFE2L1_uc002ina.3_Silent_p.A336A|NFE2L1_uc002inb.3_Silent_p.A336A|NFE2L1_uc010wle.1_Silent_p.A178A|NFE2L1_uc010wlf.1_Silent_p.A210A	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	366					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						TGCATCAGGCGTCCCTGGGGG	0.612000												
HOXB1	3211	broad.mit.edu	37	17	46607743	46607743	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:46607743G>T	uc002ink.1	-	1	530	c.524C>A	c.(523-525)CCC>CAC	p.P175H		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	175						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCGGGCCGTGGGGGTGTTAGG	0.597000												
HOXB3	3213	broad.mit.edu	37	17	46628518	46628518	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:46628518A>G	uc002inn.2	-	2	874	c.474T>C	c.(472-474)GGT>GGC	p.G158G	HOXB3_uc010wlm.1_Silent_p.G85G|HOXB3_uc010dbf.2_Silent_p.G158G|HOXB3_uc010dbg.2_Silent_p.G158G|HOXB3_uc002ino.2_Silent_p.G158G|HOXB3_uc010wlk.1_Silent_p.G26G|HOXB3_uc010wll.1_Silent_p.G85G	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	158	Gly-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						cgccgccgccaccgccgccgc	0.393000												
HOXB3	3213	broad.mit.edu	37	17	46628524	46628524	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:46628524G>A	uc002inn.2	-	2	868	c.468C>T	c.(466-468)GGC>GGT	p.G156G	HOXB3_uc010wlm.1_Silent_p.G83G|HOXB3_uc010dbf.2_Silent_p.G156G|HOXB3_uc010dbg.2_Silent_p.G156G|HOXB3_uc002ino.2_Silent_p.G156G|HOXB3_uc010wlk.1_Silent_p.G24G|HOXB3_uc010wll.1_Silent_p.G83G	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	156	Gly-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						cgccaccgccgccgccaccAC	0.383000												
HOXB3	3213	broad.mit.edu	37	17	46629516	46629516	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:46629516G>A	uc002inn.2	-	1	721	c.321C>T	c.(319-321)GGC>GGT	p.G107G	HOXB3_uc010wlm.1_Silent_p.G34G|HOXB3_uc010dbf.2_Silent_p.G107G|HOXB3_uc010dbg.2_Silent_p.G107G|HOXB3_uc002ino.2_Silent_p.G107G|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_Silent_p.G34G	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	107					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TGCTGGGCCCGCCCCCATTAC	0.652000												
HOXB13	10481	broad.mit.edu	37	17	46804349	46804349	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:46804349G>A	uc002ioa.2	-	2	814	c.658C>T	c.(658-660)CGC>TGC	p.R220C	hsa-mir-3185|MI0014227_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	220	Homeobox.				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TACGGAATGCGTTTCTTGCGG	0.617000												
XYLT2	64132	broad.mit.edu	37	17	48433258	48433258	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:48433258T>C	uc002iqo.2	+	6	1314	c.1205T>C	c.(1204-1206)TTC>TCC	p.F402S	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	402	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					TCTGACTGGTTCGTGCTGACA	0.607000												
CACNA1G	8913	broad.mit.edu	37	17	48653598	48653598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:48653598C>T	uc002irk.1	+	8	2207	c.1835C>T	c.(1834-1836)GCC>GTC	p.A612V	CACNA1G_uc002iri.1_Missense_Mutation_p.A612V|CACNA1G_uc002irj.1_Missense_Mutation_p.A612V|CACNA1G_uc002irl.1_Missense_Mutation_p.A612V|CACNA1G_uc002irm.1_Missense_Mutation_p.A612V|CACNA1G_uc002irn.1_Missense_Mutation_p.A612V|CACNA1G_uc002iro.1_Missense_Mutation_p.A612V|CACNA1G_uc002irp.1_Missense_Mutation_p.A612V|CACNA1G_uc002irq.1_Missense_Mutation_p.A612V|CACNA1G_uc002irr.1_Missense_Mutation_p.A612V|CACNA1G_uc002irs.1_Missense_Mutation_p.A612V|CACNA1G_uc002irt.1_Missense_Mutation_p.A612V|CACNA1G_uc002irv.1_Missense_Mutation_p.A612V|CACNA1G_uc002irw.1_Missense_Mutation_p.A612V|CACNA1G_uc002iru.1_Missense_Mutation_p.A612V|CACNA1G_uc002irx.1_Missense_Mutation_p.A525V|CACNA1G_uc002iry.1_Missense_Mutation_p.A525V|CACNA1G_uc002irz.1_Missense_Mutation_p.A525V|CACNA1G_uc002isa.1_Missense_Mutation_p.A525V|CACNA1G_uc002isb.1_Missense_Mutation_p.A525V|CACNA1G_uc002isc.1_Missense_Mutation_p.A525V|CACNA1G_uc002isd.1_Missense_Mutation_p.A525V|CACNA1G_uc002ise.1_Missense_Mutation_p.A525V|CACNA1G_uc002isf.1_Missense_Mutation_p.A525V|CACNA1G_uc002isg.1_Missense_Mutation_p.A525V|CACNA1G_uc002ish.1_Missense_Mutation_p.A525V|CACNA1G_uc002isi.1_Missense_Mutation_p.A525V	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	612	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGGTGGCTGCCAGCTCTGGG	0.627000												
CUEDC1	404093	broad.mit.edu	37	17	55945510	55945510	+	Splice_Site	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:55945510C>T	uc002ivd.1	-	8	1753	c.1034_splice	c.e8+1	p.S345_splice	CUEDC1_uc002ive.1_Splice_Site_p.S345_splice	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	CUE domain-containing 1											skin(2)	2						GGAAAGGATACGACTGATGCT	0.572000												
C17orf71	55181	broad.mit.edu	37	17	57290673	57290673	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:57290673C>T	uc002ixi.2	+	3	2531	c.2489C>T	c.(2488-2490)GCG>GTG	p.A830V		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	830					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AAGAGAAGTGCGGTTGTAATG	0.478000												
PPM1D	8493	broad.mit.edu	37	17	58740617	58740617	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:58740617A>G	uc002iyt.1	+	6	1744	c.1522A>G	c.(1522-1524)ATG>GTG	p.M508V	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	508					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AAACACTGTCATGGACCAAAA	0.378000											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)
CCDC45	90799	broad.mit.edu	37	17	62532743	62532743	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:62532743A>C	uc002jem.2	+	18	2152	c.2094A>C	c.(2092-2094)GAA>GAC	p.E698D	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.E534D	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	698						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TGTTTGAAGAAGGTTTAAACA	0.348000												
CACNG5	27091	broad.mit.edu	37	17	64873462	64873462	+	Silent	SNP	C	C	T	rs138908277		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:64873462C>T	uc010wqi.1	+	2	249	c.12C>T	c.(10-12)TGC>TGT	p.C4C	CACNG5_uc002jfr.2_Silent_p.C4C|CACNG5_uc010wqj.1_Silent_p.C4C	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	4					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TGAGTGCCTGCGGGAGGAAGG	0.637000												
PRKAR1A	5573	broad.mit.edu	37	17	66511682	66511682	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:66511682G>A	uc002jhg.2	+	2	322	c.142G>A	c.(142-144)GCA>ACA	p.A48T	PRKAR1A_uc002jhh.2_Missense_Mutation_p.A48T|PRKAR1A_uc002jhi.2_Missense_Mutation_p.A48T|PRKAR1A_uc002jhj.2_Missense_Mutation_p.A48T|PRKAR1A_uc002jhk.2_5'UTR|PRKAR1A_uc002jhl.2_Missense_Mutation_p.A48T|PRKAR1A_uc002jhm.2_Missense_Mutation_p.A48T	NM_212471	NP_997636	P10644	KAP0_HUMAN	cAMP-dependent protein kinase, regulatory	48	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1)	12	Breast(10;1.64e-13)					GAGACCCATGGCATTCCTCAG	0.438000			T|Mis|N|F|S	RET	papillary thyroid	myxoma|endocrine|papillary thyroid			Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of			
ABCA9	10350	broad.mit.edu	37	17	66980295	66980295	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:66980295A>G	uc002jhu.2	-	35	4544	c.4401T>C	c.(4399-4401)TTT>TTC	p.F1467F	ABCA9_uc010dez.2_Silent_p.F1429F	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1467	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)					CCGTGTTTCTAAAGGTGGCCC	0.507000												
GRIN2C	2905	broad.mit.edu	37	17	72851041	72851041	+	Missense_Mutation	SNP	G	G	A	rs145634769	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:72851041G>A	uc002jlt.1	-	2	347	c.191C>T	c.(190-192)CCG>CTG	p.P64L	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.P64L|GRIN2C_uc002jlv.1_Missense_Mutation_p.P64L	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	64	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)	AACTGTGAGCGGCTGGATCTC	0.657000												
FDXR	2232	broad.mit.edu	37	17	72859231	72859231	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:72859231A>G	uc002jly.2	-	11	1399	c.1312T>C	c.(1312-1314)TAC>CAC	p.Y438H	GRIN2C_uc002jlu.1_5'Flank|GRIN2C_uc002jlv.1_5'Flank|FDXR_uc010wri.1_Missense_Mutation_p.Y386H|FDXR_uc010wrj.1_Missense_Mutation_p.Y436H|FDXR_uc002jlw.2_Missense_Mutation_p.Y195H|FDXR_uc002jlx.2_Missense_Mutation_p.Y444H|FDXR_uc002jmc.2_Missense_Mutation_p.Y410H|FDXR_uc010wrk.1_Missense_Mutation_p.Y469H|FDXR_uc010wrl.1_Missense_Mutation_p.Y481H|FDXR_uc002jma.2_Missense_Mutation_p.Y439H|FDXR_uc010wrm.1_Missense_Mutation_p.Y398H|FDXR_uc002jlz.2_Missense_Mutation_p.Y430H|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	438					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					ATGGCTGCGTAGCCAGGCCTG	0.647000												
UBE2O	63893	broad.mit.edu	37	17	74394635	74394635	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:74394635C>A	uc002jrm.3	-	11	1879	c.1814G>T	c.(1813-1815)GGT>GTT	p.G605V	UBE2O_uc002jrn.3_Missense_Mutation_p.G605V|UBE2O_uc002jrl.3_Missense_Mutation_p.G208V	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	605							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						CTGTACCACACCGTAGACAGC	0.587000											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RNF213	57674	broad.mit.edu	37	17	78319303	78319303	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:78319303G>A	uc002jyh.1	+	4	1610	c.1387G>A	c.(1387-1389)GAC>AAC	p.D463N		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)			CACCGACCCCGACAAAACGTA	0.527000												
NPLOC4	55666	broad.mit.edu	37	17	79539094	79539094	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:79539094G>C	uc002kat.3	-	13	1484	c.1302C>G	c.(1300-1302)AAC>AAG	p.N434K	NPLOC4_uc002kau.3_Missense_Mutation_p.N434K|NPLOC4_uc010wur.1_Missense_Mutation_p.N273K|NPLOC4_uc002kas.2_5'Flank	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	434					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGGTGATCTCGTTGCCAAACT	0.542000												
DCXR	51181	broad.mit.edu	37	17	79994478	79994478	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:79994478G>A	uc002kdg.2	-	5	405	c.390C>T	c.(388-390)GCC>GCT	p.A130A		NM_016286	NP_057370	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	130					D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity				0	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;0.0191)			CATTCACGATGGCCCCTGGGA	0.532000												
HEXDC	284004	broad.mit.edu	37	17	80397570	80397570	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:80397570C>T	uc002kew.2	+	8	1014	c.963C>T	c.(961-963)TGC>TGT	p.C321C	HEXDC_uc002kev.3_Silent_p.C321C|HEXDC_uc010diq.2_Silent_p.C321C|HEXDC_uc010wvm.1_RNA|HEXDC_uc010wvn.1_Silent_p.C84C			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	321					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)			TGGCCGCCTGCCTGCAGTTGC	0.682000												
ENOSF1	55556	broad.mit.edu	37	18	683287	683287	+	Missense_Mutation	SNP	T	T	A	rs146518307	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:683287T>A	uc002kku.3	-	11	910	c.835A>T	c.(835-837)ACC>TCC	p.T279S	ENOSF1_uc002kkt.3_Missense_Mutation_p.T197S|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Missense_Mutation_p.T300S|ENOSF1_uc002kkv.3_Missense_Mutation_p.T266S|ENOSF1_uc002kkw.3_Missense_Mutation_p.T98S|ENOSF1_uc002kkx.3_Missense_Mutation_p.T203S	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN	enolase superfamily 1 isoform rTS beta	279					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1						TCAGGGGAGGTTGGCTCCTCA	0.532000												
LAMA1	284217	broad.mit.edu	37	18	6959369	6959369	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:6959369C>T	uc002knm.2	-	54	7843	c.7749G>A	c.(7747-7749)GCG>GCA	p.A2583A	LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Silent_p.A36A|LAMA1_uc010wzj.1_Silent_p.A2059A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2583	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)	AGATGGAATGCGCTTGTCCAT	0.562000												
TUBB6	84617	broad.mit.edu	37	18	12325590	12325590	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:12325590C>T	uc002kqw.2	+	4	847	c.802C>T	c.(802-804)CCT>TCT	p.P268S	TUBB6_uc002kqv.2_Missense_Mutation_p.P196S|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.P231S|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	268					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		CTTCTTCATGCCTGGCTTCGC	0.672000												
PSMA8	143471	broad.mit.edu	37	18	23772332	23772332	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:23772332A>G	uc002kvq.2	+	7	842	c.728A>G	c.(727-729)GAA>GGA	p.E243G	PSMA8_uc002kvo.2_Missense_Mutation_p.E199G|PSMA8_uc002kvp.2_Missense_Mutation_p.E237G|PSMA8_uc002kvr.2_Missense_Mutation_p.E211G	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	proteasome alpha 8 subunit isoform 1	243					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			ATAGAAAAGGAAAAGGAAGAA	0.299000												
MEP1B	4225	broad.mit.edu	37	18	29788119	29788119	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:29788119A>G	uc002kxj.3	+	9	851	c.804A>G	c.(802-804)GAA>GAG	p.E268E		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	268	Extracellular (Potential).|MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						GCAGTTTTGAACTGGAAAATG	0.413000												
ASXL3	80816	broad.mit.edu	37	18	31325872	31325872	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:31325872A>G	uc010dmg.1	+	12	6115	c.6060A>G	c.(6058-6060)CCA>CCG	p.P2020P	ASXL3_uc002kxq.2_Silent_p.P1727P	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2020	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						cgccgccgccaccgcctcccc	0.274000												
ELP2	55250	broad.mit.edu	37	18	33744530	33744530	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:33744530G>A	uc002kzk.1	+	18	1864	c.1854G>A	c.(1852-1854)ACG>ACA	p.T618T	ELP2_uc010xcg.1_Silent_p.T683T|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.T592T|ELP2_uc010xch.1_Silent_p.T613T|ELP2_uc002kzn.1_Silent_p.T548T|ELP2_uc002kzo.1_Silent_p.T548T	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	618	WD 11.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						TGACAGTCACGCAGATGGCCT	0.433000												
FHOD3	80206	broad.mit.edu	37	18	34349306	34349306	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:34349306G>A	uc002kzt.1	+	23	4200	c.4103G>A	c.(4102-4104)CGC>CAC	p.R1368H	FHOD3_uc002kzs.1_Missense_Mutation_p.R1385H|FHOD3_uc010dmz.1_Missense_Mutation_p.R1100H|FHOD3_uc010dnb.1_Missense_Mutation_p.A306T	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1368	DAD.				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)				ATCATGGACCGCATCGTCAAG	0.517000												
SETBP1	26040	broad.mit.edu	37	18	42532660	42532660	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:42532660G>T	uc010dni.2	+	4	3651	c.3355G>T	c.(3355-3357)GGA>TGA	p.G1119*		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1119						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACACCTGCAGGGACCTGTTAG	0.547000									Schinzel-Giedion_syndrome			
ZBTB7C	201501	broad.mit.edu	37	18	45567019	45567019	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:45567019C>T	uc002lda.2	-	1	476	c.460G>A	c.(460-462)GAA>AAA	p.E154K	ZBTB7C_uc002ldb.2_Missense_Mutation_p.E154K|ZBTB7C_uc010dnu.2_Missense_Mutation_p.E163K|ZBTB7C_uc010dnv.2_Missense_Mutation_p.E176K|ZBTB7C_uc010dnw.2_Missense_Mutation_p.E154K|ZBTB7C_uc010dnx.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dny.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dnz.1_Missense_Mutation_p.E176K|ZBTB7C_uc010dob.1_Missense_Mutation_p.E154K|ZBTB7C_uc010doc.1_Missense_Mutation_p.E163K|ZBTB7C_uc010dod.1_Missense_Mutation_p.E176K|ZBTB7C_uc010doe.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dof.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dog.1_Missense_Mutation_p.E154K|ZBTB7C_uc010doh.1_Missense_Mutation_p.E163K|ZBTB7C_uc010doi.1_Missense_Mutation_p.E154K|ZBTB7C_uc010doj.1_Missense_Mutation_p.E163K|ZBTB7C_uc010dok.1_Missense_Mutation_p.E203K|ZBTB7C_uc010dol.1_Missense_Mutation_p.E163K|ZBTB7C_uc010doa.1_Missense_Mutation_p.E176K|ZBTB7C_uc010don.1_Missense_Mutation_p.E162K|ZBTB7C_uc010doo.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dop.1_Missense_Mutation_p.E154K|ZBTB7C_uc010doq.1_Missense_Mutation_p.E163K|ZBTB7C_uc010dor.1_Missense_Mutation_p.E176K|ZBTB7C_uc010dos.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dot.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dou.1_Missense_Mutation_p.E163K|ZBTB7C_uc010dom.1_Missense_Mutation_p.E163K	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	154	Glu-rich.|Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						tcctcctcttcgtcctcctca	0.284000												
MYO5B	4645	broad.mit.edu	37	18	47431168	47431168	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:47431168C>T	uc002leb.2	-	20	2733	c.2445G>A	c.(2443-2445)GCG>GCA	p.A815A	MYO5B_uc002lea.2_5'Flank	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	815	Arg-rich.|IQ 2.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		GCACCACAGCCGCTCTGATCC	0.622000												
CXXC1	30827	broad.mit.edu	37	18	47809075	47809075	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:47809075C>A	uc002leq.3	-	15	2592	c.1859G>T	c.(1858-1860)CGC>CTC	p.R620L	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc010dox.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.R477L|CXXC1_uc002ler.3_Missense_Mutation_p.R624L|CXXC1_uc010doy.2_Missense_Mutation_p.A608S	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	620					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						GCGCACATTGCGCTCCTGCTC	0.642000												
RAX	30062	broad.mit.edu	37	18	56939817	56939817	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:56939817C>T	uc002lhx.2	-	2	506	c.319G>A	c.(319-321)GGG>AGG	p.G107R	RAX_uc010dpp.2_Intron	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	107				G -> W (in Ref. 1; AAD23438).	visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		CGTGCCTCCCCGGGCTCCTTG	0.697000												
SERPINB3	6317	broad.mit.edu	37	18	61322973	61322973	+	Missense_Mutation	SNP	T	T	C	rs61733404	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:61322973T>C	uc002lji.2	-	8	1235	c.1091A>G	c.(1090-1092)CAT>CGT	p.H364R	SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.H312R	NM_006919	NP_008850	P29508	SPB3_HUMAN	serine (or cysteine) proteinase inhibitor, clade	364					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GTGATTACAATGGAACTCTTC	0.458000												
RTTN	25914	broad.mit.edu	37	18	67715346	67715346	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:67715346A>C	uc002lkp.2	-	40	5470	c.5402T>G	c.(5401-5403)CTC>CGC	p.L1801R	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.L889R|RTTN_uc010dqp.2_Missense_Mutation_p.L53R	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1801							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TTCGGTCAAGAGAACAGAAAG	0.443000												
SALL3	27164	broad.mit.edu	37	18	76753340	76753340	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:76753340G>A	uc002lmt.2	+	2	1349	c.1349G>A	c.(1348-1350)TGC>TAC	p.C450Y	SALL3_uc010dra.2_Missense_Mutation_p.C57Y	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	450	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCTTCAAGTGCAACATCTGC	0.592000												
SALL3	27164	broad.mit.edu	37	18	76754516	76754516	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:76754516C>T	uc002lmt.2	+	2	2525	c.2525C>T	c.(2524-2526)GCC>GTC	p.A842V	SALL3_uc010dra.2_Missense_Mutation_p.A449V	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AGCATTGCCGCCCTGGAGAAC	0.672000												
KCNG2	26251	broad.mit.edu	37	18	77659548	77659548	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:77659548G>A	uc010xfl.1	+	2	1133	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	378					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ATGGTCCCGCGCAGCCTGCCC	0.687000												
KCNG2	26251	broad.mit.edu	37	18	77659577	77659577	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:77659577A>G	uc010xfl.1	+	2	1162	c.1162A>G	c.(1162-1164)AGC>GGC	p.S388G		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	388	Helical; Name=Segment S6; (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGTGGCGCTCAGCAGCATCCT	0.662000												
MIDN	90007	broad.mit.edu	37	19	1257208	1257208	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:1257208C>T	uc002lrp.2	+	8	1859	c.1344C>T	c.(1342-1344)TTC>TTT	p.F448F		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	448						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)		GCCTCGACTTCGAGGACTCCG	0.672000												
ZFR2	23217	broad.mit.edu	37	19	3823259	3823259	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:3823259C>T	uc002lyw.2	-	8	1368	c.1356G>A	c.(1354-1356)CCG>CCA	p.P452P	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	452						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCACATATTCCGGGCCCACCG	0.617000												
SEMA6B	10501	broad.mit.edu	37	19	4548310	4548310	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:4548310G>A	uc010duc.1	-	12	1457	c.1419C>T	c.(1417-1419)GTC>GTT	p.V473V	SEMA6B_uc010dud.2_Silent_p.V473V|SEMA6B_uc010xih.1_Silent_p.V473V	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	473	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		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)		CCTCCAGGAAGACACTGAGCC	0.627000												
TICAM1	148022	broad.mit.edu	37	19	4818093	4818093	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:4818093C>T	uc002mbi.2	-	2	548	c.297G>A	c.(295-297)TTG>TTA	p.L99L		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	99					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCAGGTGGTACAAGCGGGCCA	0.716000												
KDM4B	23030	broad.mit.edu	37	19	5039897	5039897	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:5039897C>T	uc002mbq.3	+	4	418	c.192C>T	c.(190-192)GAC>GAT	p.D64D	KDM4B_uc010xil.1_Silent_p.D64D|KDM4B_uc010xim.1_Silent_p.D64D	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	64					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						ATGACATCGACGACGTGGTGA	0.612000												
SAFB	6294	broad.mit.edu	37	19	5661753	5661753	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:5661753G>A	uc002mcf.2	+	15	2140	c.2087G>A	c.(2086-2088)CGC>CAC	p.R696H	SAFB_uc002mcg.2_Missense_Mutation_p.R696H|SAFB_uc002mce.3_Missense_Mutation_p.R695H|SAFB_uc010xir.1_Missense_Mutation_p.R695H|SAFB_uc010xis.1_Missense_Mutation_p.R627H|SAFB_uc010xit.1_Missense_Mutation_p.R538H|SAFB_uc010xiu.1_Missense_Mutation_p.R495H	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	696	Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich.|Glu-rich.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GAGCTGAGGCGCCAGCAGGAA	0.701000												
SAFB	6294	broad.mit.edu	37	19	5668284	5668284	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:5668284C>T	uc002mcf.2	+	21	2783	c.2730C>T	c.(2728-2730)CGC>CGT	p.R910R	SAFB_uc002mcg.2_Silent_p.R912R|SAFB_uc002mce.3_Silent_p.R911R|SAFB_uc010xir.1_Silent_p.R909R|SAFB_uc010xis.1_Silent_p.R843R|SAFB_uc010xit.1_Silent_p.R754R|SAFB_uc010xiu.1_Silent_p.R711R	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	910	Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCGATGCCCGCTTCACTCGCC	0.592000												
CLEC4G	339390	broad.mit.edu	37	19	7796189	7796189	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:7796189C>T	uc002mhp.3	-	3	252	c.183G>A	c.(181-183)GCG>GCA	p.A61A		NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	61	Extracellular (Potential).					integral to membrane	protein binding|sugar binding				0						CAAGCAGCGCCGCGCGCTCCG	0.731000												
MYO1F	4542	broad.mit.edu	37	19	8616964	8616964	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:8616964C>T	uc002mkg.2	-	7	703	c.589G>A	c.(589-591)GTG>ATG	p.V197M	MYO1F_uc002mkh.2_Missense_Mutation_p.V197M|MYO1F_uc010xkf.1_Missense_Mutation_p.V197M	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	197	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						TGCATGACCACGCGGGACTTC	0.577000												
MYO1F	4542	broad.mit.edu	37	19	8619568	8619568	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:8619568G>A	uc002mkg.2	-	3	315	c.201C>T	c.(199-201)ACC>ACT	p.T67T	MYO1F_uc002mkh.2_Silent_p.T67T|MYO1F_uc010xkf.1_Silent_p.T67T	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	67	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						TCTCACGGTCGGTGAAGTAGG	0.612000												
MBD3L1	85509	broad.mit.edu	37	19	8953876	8953876	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:8953876G>A	uc002mko.2	+	1	608	c.522G>A	c.(520-522)GCG>GCA	p.A174A		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						CACTGATTGCGGATGGACTCG	0.443000												
MUC16	94025	broad.mit.edu	37	19	9083531	9083531	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:9083531T>G	uc002mkp.2	-	1	8488	c.8284A>C	c.(8284-8286)AGT>CGT	p.S2762R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2762	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						GAACTCTGACTGAATACAAGG	0.493000												
OR7G2	390882	broad.mit.edu	37	19	9213400	9213400	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:9213400T>G	uc010xkk.1	-	1	583	c.583A>C	c.(583-585)ATC>CTC	p.I195L		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AAGAGCGGGATTTCCAGGTCT	0.478000												
CDKN2D	1032	broad.mit.edu	37	19	10677793	10677793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:10677793G>A	uc002mpa.2	-	2	744	c.442C>T	c.(442-444)CAG>TAG	p.Q148*	KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Nonsense_Mutation_p.Q148*	NM_001800	NP_001791	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D	148	ANK 4.				anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding				0			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GCCCCTCTCTGCAGTGCCAGC	0.612000									Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System			
ELAVL3	1995	broad.mit.edu	37	19	11565638	11565638	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:11565638G>A	uc002mry.1	-	7	1187	c.807C>T	c.(805-807)GGC>GGT	p.G269G	ELAVL3_uc002mrx.1_Silent_p.G262G	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	269					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						CGCCCGCCAGGCCGCTCATAC	0.577000												
ZNF700	90592	broad.mit.edu	37	19	12059372	12059372	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:12059372G>A	uc002msu.2	+	4	659	c.533G>A	c.(532-534)CGC>CAC	p.R178H	ZNF700_uc010xme.1_Missense_Mutation_p.R196H|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCAGGTATCGCCCATCCATT	0.403000												
DAND5	199699	broad.mit.edu	37	19	13084268	13084268	+	Silent	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:13084268C>A	uc002mwc.1	+	2	433	c.390C>A	c.(388-390)TCC>TCA	p.S130S	DAND5_uc010dyz.1_3'UTR	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	dante precursor	130	CTCK.					extracellular region				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			GTCATTGCTCCTCTCTCTACA	0.627000												
CC2D1A	54862	broad.mit.edu	37	19	14034616	14034616	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:14034616C>T	uc002mxo.2	+	17	2231	c.1932C>T	c.(1930-1932)AGC>AGT	p.S644S	CC2D1A_uc002mxp.2_Silent_p.S644S|CC2D1A_uc010dzh.2_Silent_p.S213S|CC2D1A_uc002mxq.1_Silent_p.S289S	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	644	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGACCTTCAGCGTCATCAAGT	0.622000												
DCAF15	90379	broad.mit.edu	37	19	14067019	14067019	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:14067019C>T	uc002mxt.2	+	5	564	c.558C>T	c.(556-558)GCC>GCT	p.A186A	PODNL1_uc010xnj.1_5'Flank|PODNL1_uc002mxs.2_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	186										central_nervous_system(1)	1						GCACCGTGGCCGTGCCACCGC	0.677000												
PKN1	5585	broad.mit.edu	37	19	14581440	14581440	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:14581440C>T	uc002myp.2	+	20	2658	c.2490C>T	c.(2488-2490)GAC>GAT	p.D830D	PKN1_uc002myq.2_Silent_p.D836D|PKN1_uc002myr.2_Silent_p.D170D	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	830	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho 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|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						TCGTCAACGACGAGGTTCGCT	0.682000												
CYP4F22	126410	broad.mit.edu	37	19	15651358	15651358	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:15651358C>T	uc002nbh.3	+	8	936	c.769C>T	c.(769-771)CGC>TGC	p.R257C		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	257						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						CATTTACTACCGCTCGGCGGA	0.582000												
SIN3B	23309	broad.mit.edu	37	19	16980624	16980624	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:16980624G>A	uc002ney.1	+	14	2270	c.2256G>A	c.(2254-2256)CCG>CCA	p.P752P	SIN3B_uc002nez.1_Silent_p.P720P|SIN3B_uc010xpi.1_Silent_p.P310P	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	752					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						GGGATGCCCCGGCCACTGAGC	0.662000												
CPAMD8	27151	broad.mit.edu	37	19	17038831	17038831	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:17038831C>T	uc002nfb.2	-	25	3531	c.3499G>A	c.(3499-3501)GCC>ACC	p.A1167T		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1120						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						ATGATGGAGGCGGTGGCTCGC	0.622000												
PIK3R2	5296	broad.mit.edu	37	19	18273010	18273010	+	Splice_Site	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:18273010A>G	uc002nia.1	+	8	1414	c.902_splice	c.e8-2	p.A301_splice	PIK3R2_uc002nib.1_Splice_Site|PIK3R2_uc010ebi.1_Splice_Site	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2						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						CCTGTCCCCCAGCGCTGCCGC	0.627000												
LRRC25	126364	broad.mit.edu	37	19	18502843	18502843	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:18502843C>T	uc002niw.2	-	2	1514	c.872G>A	c.(871-873)GGC>GAC	p.G291D	LRRC25_uc002nix.2_Missense_Mutation_p.G291D	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25 precursor	291	Cytoplasmic (Potential).					integral to membrane					0						TGGGGCCTGGCCCAGTGACTG	0.532000												
NCAN	1463	broad.mit.edu	37	19	19338531	19338531	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:19338531C>G	uc002nlz.2	+	8	2201	c.2102C>G	c.(2101-2103)CCC>CGC	p.P701R	NCAN_uc010ecc.1_Missense_Mutation_p.P265R	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	701					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CCTGAGTCCCCCAGGGCAGAC	0.587000												
ZNF14	7561	broad.mit.edu	37	19	19822525	19822525	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:19822525T>C	uc002nnk.1	-	4	1719	c.1565A>G	c.(1564-1566)GAA>GGA	p.E522G		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	522	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)				GTGAATTTTTTCATGTTCTCG	0.408000												
ZNF626	199777	broad.mit.edu	37	19	20808310	20808310	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:20808310C>T	uc002npb.1	-	4	523	c.373G>A	c.(373-375)GTG>ATG	p.V125M	ZNF626_uc002npc.1_Missense_Mutation_p.V49M	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TCTTTGTGCACCTTACACTCA	0.318000												
CHST8	64377	broad.mit.edu	37	19	34263898	34263898	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:34263898G>A	uc002nus.3	+	5	1710	c.1205G>A	c.(1204-1206)CGC>CAC	p.R402H	CHST8_uc002nut.3_Missense_Mutation_p.R402H|CHST8_uc002nuu.2_Missense_Mutation_p.R402H	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	402	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					CAAAGGCAGCGCACCTACGAC	0.622000												
LSR	51599	broad.mit.edu	37	19	35741230	35741230	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:35741230C>T	uc002nyl.2	+	2	489	c.266C>T	c.(265-267)GCC>GTC	p.A89V	LSR_uc002nym.2_Missense_Mutation_p.A89V|LSR_uc002nyn.2_Missense_Mutation_p.A89V|LSR_uc002nyo.2_Missense_Mutation_p.A89V|LSR_uc010xsr.1_Missense_Mutation_p.A89V|LSR_uc002nyp.2_Missense_Mutation_p.A52V	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	89	Extracellular (Potential).|Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGCCAGGGCCATCCAGGTG	0.612000												
USF2	7392	broad.mit.edu	37	19	35761435	35761435	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:35761435C>T	uc002nyq.1	+	5	624	c.515C>T	c.(514-516)GCG>GTG	p.A172V	USF2_uc010xss.1_Missense_Mutation_p.A172V|USF2_uc002nyr.1_Missense_Mutation_p.A105V|USF2_uc002nys.1_5'UTR|USF2_uc002nyt.1_Intron|USF2_uc002nyu.1_5'UTR|USF2_uc002nyv.1_5'UTR	NM_003367	NP_003358	Q15853	USF2_HUMAN	upstream stimulatory factor 2 isoform 1	172					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity				0	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TATTTCCCAGCGTCCAGTGTG	0.597000												
MAG	4099	broad.mit.edu	37	19	35791272	35791272	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:35791272G>A	uc002nyy.1	+	6	1084	c.935G>A	c.(934-936)GGC>GAC	p.G312D	MAG_uc002nyx.1_Missense_Mutation_p.G312D|MAG_uc010eds.1_Missense_Mutation_p.G287D|MAG_uc002nyz.1_Missense_Mutation_p.G312D	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	312	Ig-like C2-type 2.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AATGCCTATGGCCAGGACAAC	0.662000												
GAPDHS	26330	broad.mit.edu	37	19	36027833	36027833	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:36027833C>T	uc002oaf.1	+	2	302	c.186C>T	c.(184-186)CCC>CCT	p.P62P		NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	62					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CTCCTCACCCCGCTACTCCTC	0.592000												
MLL4	9757	broad.mit.edu	37	19	36216189	36216189	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:36216189C>T	uc010eei.2	+	12	3597	c.3597C>T	c.(3595-3597)GGC>GGT	p.G1199G		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1199					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCAGGGGGCCCCCCGATGG	0.602000												
LRFN3	79414	broad.mit.edu	37	19	36430331	36430331	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:36430331G>A	uc002oco.2	+	2	456	c.4G>A	c.(4-6)GCC>ACC	p.A2T		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	2					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCCGCGATGGCCATCCTCCC	0.697000												
ZNF569	148266	broad.mit.edu	37	19	37917233	37917233	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:37917233C>T	uc002ogi.2	-	4	621	c.63G>A	c.(61-63)GAG>GAA	p.E21E	ZNF569_uc002ogh.2_Intron|ZNF569_uc002ogj.2_Silent_p.E45E	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATCTCTTCCACTCCTCCTGAG	0.398000												
SIPA1L3	23094	broad.mit.edu	37	19	38621191	38621191	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:38621191C>T	uc002ohk.2	+	10	3431	c.2922C>T	c.(2920-2922)CTC>CTT	p.L974L		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	974	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)			GGAACGGGCTCGGGCAGCTGG	0.667000												
ACTN4	81	broad.mit.edu	37	19	39191313	39191313	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:39191313G>A	uc002oja.1	+	2	295	c.236G>A	c.(235-237)CGA>CAA	p.R79Q	ACTN4_uc010egc.1_Missense_Mutation_p.R79Q	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	79	Actin-binding.|CH 1.				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)			GAGGACTTCCGAGACGGGCTC	0.607000												
C19orf47	126526	broad.mit.edu	37	19	40832311	40832311	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:40832311G>A	uc002oni.3	-	7	634	c.633C>T	c.(631-633)TAC>TAT	p.Y211Y	C19orf47_uc002ong.2_Silent_p.Y70Y|C19orf47_uc002onh.2_Silent_p.Y144Y	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	211										ovary(1)|skin(1)	2			Lung(22;0.000636)			TGTTGATGACGTACTTCCCCT	0.647000												
CYP2A6	1548	broad.mit.edu	37	19	41349705	41349705	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:41349705C>T	uc002opl.3	-	9	1502	c.1481G>A	c.(1480-1482)CGC>CAC	p.R494H		NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	494					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CCTCGCTCAGCGGGGCAGGAA	0.652000												
AXL	558	broad.mit.edu	37	19	41726691	41726691	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:41726691C>T	uc010ehj.2	+	2	426	c.236C>T	c.(235-237)GCG>GTG	p.A79V	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.A79V|AXL_uc010ehk.2_Missense_Mutation_p.A79V	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	79	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						CTGGAGCTCGCGGACAGCACC	0.637000												
PSG11	5680	broad.mit.edu	37	19	43519387	43519387	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:43519387G>T	uc002ovm.1	-	4	952	c.845C>A	c.(844-846)TCA>TAA	p.S282*	PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Nonsense_Mutation_p.S288*|PSG11_uc002ovo.1_Nonsense_Mutation_p.S160*|PSG11_uc002ovp.1_Nonsense_Mutation_p.S160*	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	282	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				CTTTTGTCCTGATAGCTGAAA	0.468000												
ZNF428	126299	broad.mit.edu	37	19	44111887	44111887	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:44111887T>C	uc002oxa.2	-	3	884	c.449A>G	c.(448-450)GAG>GGG	p.E150G	SRRM5_uc002oxb.2_Intron	NM_182498	NP_872304	Q96B54	ZN428_HUMAN	zinc finger protein 428	150	Glu-rich.					intracellular	zinc ion binding				0		Prostate(69;0.0153)				ctcctcctcctccCGCCCAGC	0.557000												
ZNF284	342909	broad.mit.edu	37	19	44590402	44590402	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:44590402A>C	uc002oyg.1	+	5	987	c.771A>C	c.(769-771)AAA>AAC	p.K257N	ZNF284_uc010ejd.2_RNA	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	zinc finger protein 284	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				CAGGAGAAAAACCTCATATTT	0.418000												
BCAM	4059	broad.mit.edu	37	19	45316790	45316790	+	Missense_Mutation	SNP	G	G	A	rs144233028		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:45316790G>A	uc002ozu.2	+	6	741	c.697G>A	c.(697-699)GCC>ACC	p.A233T	BCAM_uc002ozt.1_Missense_Mutation_p.A233T	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	233	Extracellular (Potential).|Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TGACCGAGACGCCAGCTTCCA	0.697000												
NKPD1	284353	broad.mit.edu	37	19	45656240	45656240	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:45656240C>T	uc010xxi.1	-	4	1455	c.1455G>A	c.(1453-1455)GCG>GCA	p.A485A		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)		AGATGAAGGGCGCGTGGCTGT	0.662000												
RTN2	6253	broad.mit.edu	37	19	45992808	45992808	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:45992808G>A	uc002pcb.2	-	6	1265	c.1037C>T	c.(1036-1038)GCG>GTG	p.A346V	RTN2_uc002pcc.2_Missense_Mutation_p.A273V|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	346	Reticulon.					integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CAGCAGGTCCGCCACTGTGGA	0.592000												
IGFL4	444882	broad.mit.edu	37	19	46543796	46543796	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:46543796G>C	uc002pdy.1	-	2	104	c.50C>G	c.(49-51)TCA>TGA	p.S17*		NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4 precursor	17						extracellular region					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		TTCTGAGTTTGAACCCAAAAG	0.517000												
CYTH2	9266	broad.mit.edu	37	19	48977274	48977274	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:48977274G>T	uc002pjj.3	+	6	847	c.547G>T	c.(547-549)GAC>TAC	p.D183Y	CYTH2_uc002pji.2_RNA	NM_017457	NP_059431	Q99418	CYH2_HUMAN	cytohesin 2 isoform 1	183	SEC7.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						CCAGTCCACAGGtgcgggccc	0.303000												
AP2A1	160	broad.mit.edu	37	19	50309974	50309974	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:50309974G>A	uc002ppn.2	+	24	3104	c.2893G>A	c.(2893-2895)GTC>ATC	p.V965I	AP2A1_uc002ppo.2_Missense_Mutation_p.V943I|AP2A1_uc010enk.2_Missense_Mutation_p.V96I	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	965				ENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEP VSRHLCELLAQQF -> GDREDTRVWGMPGTFLRPFVFLFL FICCCLHSGGLGGVPLPPFPPQAQRGEGPGKWMSPPLPPHP VVAPPTPSPSRGCVLL (in Ref. 4; AAH14214).	axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CAAGGAGCCCGTCTCCCGTCA	0.667000												
MED25	81857	broad.mit.edu	37	19	50339096	50339096	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:50339096G>A	uc002ppw.1	+	16	1912	c.1859G>A	c.(1858-1860)GGC>GAC	p.G620D	MED25_uc010ybe.1_Missense_Mutation_p.G407D|MED25_uc002ppx.1_Missense_Mutation_p.G401D	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	mediator complex subunit 25	620	Interaction with RARA.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCCCCTCAAGGCCCTCCTGGA	0.716000												
SYT3	84258	broad.mit.edu	37	19	51136065	51136065	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:51136065A>C	uc002pst.2	-	2	786	c.152T>G	c.(151-153)ATC>AGC	p.I51S	SYT3_uc002psv.2_Missense_Mutation_p.I51S|SYT3_uc010ycd.1_Missense_Mutation_p.I51S	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	51	Vesicular (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCTCACGGAGATGTCTGGAGA	0.512000												
KLK2	3817	broad.mit.edu	37	19	51379894	51379894	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:51379894C>T	uc002ptv.2	+	3	414	c.373C>T	c.(373-375)CGC>TGC	p.R125C	KLK2_uc010eog.2_Missense_Mutation_p.R23C|KLK2_uc010yck.1_Missense_Mutation_p.R125C|KLK2_uc002ptu.2_Missense_Mutation_p.R125C|KLK2_uc002ptt.2_RNA|KLK2_uc010ycl.1_Missense_Mutation_p.R108C|KLK2_uc010ycm.1_Missense_Mutation_p.R23C|KLK2_uc010eoh.2_Missense_Mutation_p.R23C	NM_005551	NP_005542	P20151	KLK2_HUMAN	kallikrein 2, prostatic isoform 1	125	Peptidase S1.				proteolysis		serine-type endopeptidase activity			ovary(1)|skin(1)	2		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CATGCTGCTCCGCCTGTCAGA	0.587000			T	ETV4	prostate							
KLK7	5650	broad.mit.edu	37	19	51483543	51483543	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:51483543C>T	uc002puo.2	-	4	524	c.422G>A	c.(421-423)GGA>GAA	p.G141E	KLK7_uc002pup.2_Missense_Mutation_p.G141E|KLK7_uc010yco.1_Missense_Mutation_p.G15E|KLK7_uc010eok.2_Missense_Mutation_p.G69E	NM_139277	NP_644806	P49862	KLK7_HUMAN	stratum corneum chymotryptic enzyme	141	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		ACAGGTGGTTCCAGGGGGTTC	0.458000												
ZNF808	388558	broad.mit.edu	37	19	53050772	53050772	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:53050772T>C	uc010epq.1	+	4	248	c.71T>C	c.(70-72)TTG>TCG	p.L24S	ZNF808_uc002pzq.2_Intron	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TAGGGACGCTTGACTTTCAGG	0.393000												
NLRP11	204801	broad.mit.edu	37	19	56320425	56320425	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:56320425C>A	uc010ygf.1	-	5	2262	c.1551G>T	c.(1549-1551)ATG>ATT	p.M517I	NLRP11_uc002qlz.2_Missense_Mutation_p.M418I|NLRP11_uc002qmb.2_Missense_Mutation_p.M418I|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	517							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGCTGTCTACCATCGGTAGCT	0.408000												
ZNF71	58491	broad.mit.edu	37	19	57134038	57134038	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:57134038G>A	uc002qnm.3	+	3	1621	c.1383G>A	c.(1381-1383)ACG>ACA	p.T461T		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	461						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGATCCACACGGGCGAGAAGC	0.637000												
ZNF135	7694	broad.mit.edu	37	19	58579087	58579087	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:58579087G>A	uc010yhq.1	+	5	1367	c.1271G>A	c.(1270-1272)TGT>TAT	p.C424Y	ZNF135_uc002qre.2_Missense_Mutation_p.C412Y|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.C370Y|ZNF135_uc002qrg.2_Missense_Mutation_p.C382Y|ZNF135_uc010yhr.1_Missense_Mutation_p.C233Y	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	424					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCCTATGAGTGTGGTGAGTGT	0.537000												
ZBTB45	84878	broad.mit.edu	37	19	59028938	59028938	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:59028938C>T	uc002qtd.2	-	2	395	c.103G>A	c.(103-105)GTG>ATG	p.V35M	ZBTB45_uc002qte.2_Missense_Mutation_p.V35M|ZBTB45_uc002qtf.2_Missense_Mutation_p.V35M	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	35	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CGCACAGTCACGTCACAGAAG	0.612000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PXDN	7837	broad.mit.edu	37	2	1652889	1652889	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:1652889C>T	uc002qxa.2	-	17	2727	c.2663G>A	c.(2662-2664)GGC>GAC	p.G888D		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	888					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)		CGAAGTCATGCCGCTGCCGCA	0.632000												
TTC15	51112	broad.mit.edu	37	2	3392378	3392378	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:3392378C>T	uc002qxm.1	+	2	1190	c.984C>T	c.(982-984)CGC>CGT	p.R328R	TTC15_uc002qxn.1_Silent_p.R328R|TTC15_uc010ewm.1_Silent_p.R328R|TTC15_uc002qxl.1_Silent_p.R328R	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	328							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		CCCAGCAGCGCGGCGCCGTGT	0.697000												
LPIN1	23175	broad.mit.edu	37	2	11907961	11907961	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:11907961G>A	uc010yjn.1	+	4	539	c.265G>A	c.(265-267)GTT>ATT	p.V89I	LPIN1_uc010yjm.1_Missense_Mutation_p.V138I|LPIN1_uc002rbt.2_Missense_Mutation_p.V89I|LPIN1_uc002rbs.2_Missense_Mutation_p.V89I	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	89	N-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AGCATTTTTTGTTCAAGAAAC	0.393000												
NBAS	51594	broad.mit.edu	37	2	15534390	15534390	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:15534390C>T	uc002rcc.1	-	28	3244	c.3218G>A	c.(3217-3219)CGC>CAC	p.R1073H	NBAS_uc010exl.1_Missense_Mutation_p.R145H|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1073										ovary(2)|liver(1)|skin(1)	4						CATCAGCTTGCGTGCCTCTTC	0.338000												
DTNB	1838	broad.mit.edu	37	2	25650468	25650468	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:25650468G>A	uc002rgh.2	-	15	1740	c.1490C>T	c.(1489-1491)TCG>TTG	p.S497L	DTNB_uc002rgg.2_Missense_Mutation_p.S126L|DTNB_uc010yko.1_Missense_Mutation_p.S440L|DTNB_uc010ykp.1_Missense_Mutation_p.S293L|DTNB_uc002rgo.2_Missense_Mutation_p.S288L|DTNB_uc002rgi.2_Missense_Mutation_p.S497L|DTNB_uc002rgj.2_Missense_Mutation_p.S497L|DTNB_uc002rgk.2_Missense_Mutation_p.S467L|DTNB_uc002rgl.2_Missense_Mutation_p.S467L|DTNB_uc002rgq.2_Missense_Mutation_p.S497L|DTNB_uc002rgm.2_Missense_Mutation_p.S467L|DTNB_uc002rgn.2_Missense_Mutation_p.S293L|DTNB_uc002rgr.1_Missense_Mutation_p.S486L|DTNB_uc010ykq.1_Missense_Mutation_p.S350L|DTNB_uc002rgp.1_Missense_Mutation_p.S2L	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	497	Potential.					cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCAGGGCCGACATCCTCTG	0.473000												
OTOF	9381	broad.mit.edu	37	2	26699057	26699057	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:26699057C>A	uc002rhk.2	-	23	2932	c.2805G>T	c.(2803-2805)GAG>GAT	p.E935D	OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.E188D|OTOF_uc002rhi.2_Missense_Mutation_p.E245D|OTOF_uc002rhj.2_Missense_Mutation_p.E188D	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	935	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCCTTGACCTCCTGGAAGC	0.652000												
PREB	10113	broad.mit.edu	37	2	27355197	27355197	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:27355197T>C	uc002rix.1	-	6	1080	c.827A>G	c.(826-828)CAG>CGG	p.Q276R	PREB_uc002riy.1_Missense_Mutation_p.Q204R|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Intron	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding protein	276	Cytoplasmic (Potential).				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGGGGGCTGGCGCAGGCG	0.622000												
SLC5A6	8884	broad.mit.edu	37	2	27426696	27426696	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:27426696G>A	uc002rjd.2	-	10	1436	c.1045C>T	c.(1045-1047)CCA>TCA	p.P349S	SLC5A6_uc010eyv.1_Missense_Mutation_p.P349S	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	349	Helical; (Potential).				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GGCAGGCCTGGCAGGCCCTTC	0.587000												
CCDC88A	55704	broad.mit.edu	37	2	55544857	55544857	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:55544857G>A	uc002ryv.2	-	20	4284	c.3442C>T	c.(3442-3444)CTA>TTA	p.L1148L	CCDC88A_uc010yoz.1_Silent_p.L1149L|CCDC88A_uc010ypa.1_Silent_p.L1148L|CCDC88A_uc002ryu.2_Silent_p.L431L|CCDC88A_uc002rys.2_Silent_p.L134L|CCDC88A_uc002ryw.2_Silent_p.L432L|CCDC88A_uc010fby.1_Silent_p.L28L	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	1149	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						AGAGATTTTAGGTCTTCTCGC	0.388000												
SERTAD2	9792	broad.mit.edu	37	2	64863927	64863927	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:64863927C>T	uc002sde.1	-	2	376	c.79G>A	c.(79-81)GGT>AGT	p.G27S		NM_014755	NP_055570	Q14140	SRTD2_HUMAN	SERTA domain containing 2	27					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus					0						TTGGATGGACCGTCACAGGGA	0.488000												
TEX261	113419	broad.mit.edu	37	2	71216123	71216123	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:71216123G>T	uc002shn.2	-	5	511	c.397C>A	c.(397-399)CTG>ATG	p.L133M	TEX261_uc010fdy.2_Missense_Mutation_p.L86M	NM_144582	NP_653183	Q6UWH6	TX261_HUMAN	testis expressed sequence 261	133	Helical; (Potential).					integral to membrane					0						ATTATCCACAGGCAGAAAGTG	0.562000												
DYSF	8291	broad.mit.edu	37	2	71797446	71797446	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:71797446C>T	uc002sie.2	+	28	3389	c.3013C>T	c.(3013-3015)CGG>TGG	p.R1005W	DYSF_uc010feg.2_Missense_Mutation_p.R1036W|DYSF_uc010feh.2_Missense_Mutation_p.R991W|DYSF_uc002sig.3_Missense_Mutation_p.R991W|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1005W|DYSF_uc010fef.2_Missense_Mutation_p.R1022W|DYSF_uc010fei.2_Missense_Mutation_p.R1022W|DYSF_uc010fek.2_Missense_Mutation_p.R1023W|DYSF_uc010fej.2_Missense_Mutation_p.R992W|DYSF_uc010fel.2_Missense_Mutation_p.R992W|DYSF_uc010feo.2_Missense_Mutation_p.R1037W|DYSF_uc010fem.2_Missense_Mutation_p.R1006W|DYSF_uc010fen.2_Missense_Mutation_p.R1023W|DYSF_uc002sif.2_Missense_Mutation_p.R1006W	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1005	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						AGACCTCAACCGGGCTGTCGA	0.592000												
DYSF	8291	broad.mit.edu	37	2	71801367	71801367	+	Missense_Mutation	SNP	G	G	A	rs34660230		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:71801367G>A	uc002sie.2	+	30	3590	c.3214G>A	c.(3214-3216)GCC>ACC	p.A1072T	DYSF_uc010feg.2_Missense_Mutation_p.A1103T|DYSF_uc010feh.2_Missense_Mutation_p.A1058T|DYSF_uc002sig.3_Missense_Mutation_p.A1058T|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.A1072T|DYSF_uc010fef.2_Missense_Mutation_p.A1089T|DYSF_uc010fei.2_Missense_Mutation_p.A1089T|DYSF_uc010fek.2_Missense_Mutation_p.A1090T|DYSF_uc010fej.2_Missense_Mutation_p.A1059T|DYSF_uc010fel.2_Missense_Mutation_p.A1059T|DYSF_uc010feo.2_Missense_Mutation_p.A1104T|DYSF_uc010fem.2_Missense_Mutation_p.A1073T|DYSF_uc010fen.2_Missense_Mutation_p.A1090T|DYSF_uc002sif.2_Missense_Mutation_p.A1073T|DYSF_uc010yqy.1_5'Flank	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1072	Cytoplasmic (Potential).|Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CTGGGAGTACGCCTCTCTTTT	0.662000												
FBXO41	150726	broad.mit.edu	37	2	73487661	73487661	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:73487661G>A	uc002sjb.1	-	11	2488	c.2488C>T	c.(2488-2490)CGG>TGG	p.R830W		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	769						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						ACCTGCAGCCGCATGCAGTTT	0.627000												
DCTN1	1639	broad.mit.edu	37	2	74597439	74597439	+	Silent	SNP	C	C	T	rs72659373		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:74597439C>T	uc002skx.2	-	12	1472	c.1161G>A	c.(1159-1161)GAG>GAA	p.E387E	DCTN1_uc002skv.2_Silent_p.E253E|DCTN1_uc002sku.2_Silent_p.E253E|DCTN1_uc002skw.1_Silent_p.E363E|DCTN1_uc010ffd.2_Silent_p.E367E|DCTN1_uc002sky.2_Silent_p.E350E	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	387	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						GCTTCACATGCTCCTGCTTCT	0.547000												
KCMF1	56888	broad.mit.edu	37	2	85280302	85280302	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:85280302C>T	uc002sox.3	+	7	1260	c.916C>T	c.(916-918)CGC>TGC	p.R306C		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	306						intracellular	ligase activity|zinc ion binding			ovary(2)	2						TGAAACGGAGCGCCAGTCCAT	0.448000												
C2orf51	200523	broad.mit.edu	37	2	88828731	88828731	+	Silent	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:88828731C>A	uc002stb.1	+	4	424	c.282C>A	c.(280-282)GCC>GCA	p.A94A		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	chromosome 2 open reading frame 51	94						nucleus				skin(1)	1						AACATGAGGCCACGAGGGAGG	0.582000												
EIF2AK3	9451	broad.mit.edu	37	2	88885399	88885399	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:88885399G>A	uc002stc.3	-	9	1812	c.1610C>T	c.(1609-1611)ACG>ATG	p.T537M		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	537	Cytoplasmic (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CACAATAAACGTTGTTGCTAT	0.333000												
ASTL	431705	broad.mit.edu	37	2	96789817	96789817	+	Silent	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:96789817T>G	uc010yui.1	-	9	1068	c.1068A>C	c.(1066-1068)GCA>GCC	p.A356A		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	356					proteolysis		metalloendopeptidase activity|zinc ion binding				0						CCGAGGCCTCTGCACTGAGCT	0.672000												
CHST10	9486	broad.mit.edu	37	2	101023061	101023061	+	Missense_Mutation	SNP	G	G	A	rs148953500		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:101023061G>A	uc002tam.2	-	3	436	c.77C>T	c.(76-78)ACG>ATG	p.T26M		NM_004854	NP_004845	O43529	CHSTA_HUMAN	HNK-1 sulfotransferase	26	Helical; Signal-anchor for type II membrane protein; (Potential).				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				ovary(1)	1						AAAGGTCAACGTGATGAACTT	0.473000												
NPAS2	4862	broad.mit.edu	37	2	101606806	101606806	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:101606806C>A	uc002tap.1	+	18	2202	c.1916C>A	c.(1915-1917)GCT>GAT	p.A639D	NPAS2_uc010yvt.1_Missense_Mutation_p.A704D|NPAS2_uc010fit.1_Intron	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	639					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						AGCGCCACAGCTGCGCTCCCG	0.612000												
GPR45	11250	broad.mit.edu	37	2	105858503	105858503	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:105858503C>T	uc002tco.1	+	1	304	c.188C>T	c.(187-189)CCG>CTG	p.P63L		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	63	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						TACCAGAGGCCGGCTATGCGC	0.622000												
CKAP2L	150468	broad.mit.edu	37	2	113514492	113514492	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:113514492C>T	uc002tie.2	-	4	535	c.456G>A	c.(454-456)CAG>CAA	p.Q152Q	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	152						centrosome					0						CTGTTAACTGCTGCTTTGTAG	0.348000												
INSIG2	51141	broad.mit.edu	37	2	118864334	118864334	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:118864334A>G	uc002tlk.2	+	4	597	c.391A>G	c.(391-393)ATA>GTA	p.I131V	INSIG2_uc010yye.1_Missense_Mutation_p.I23V|INSIG2_uc002tll.2_Missense_Mutation_p.I23V	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN	insulin induced protein 2	131	Helical; (Potential).				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				ovary(1)|central_nervous_system(1)	2						CGATAACAACATACAGTTGTC	0.373000												
STEAP3	55240	broad.mit.edu	37	2	120005667	120005667	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:120005667G>A	uc002tlp.2	+	4	1062	c.905G>A	c.(904-906)CGC>CAC	p.R302H	STEAP3_uc002tlq.2_Missense_Mutation_p.R312H|STEAP3_uc002tlr.2_Missense_Mutation_p.R302H|STEAP3_uc010fle.2_Missense_Mutation_p.R302H	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	302	Ferric oxidoreductase.|Cytoplasmic (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						CTACAGCACCGCAAGCAGATC	0.687000												
GLI2	2736	broad.mit.edu	37	2	121684992	121684992	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:121684992C>T	uc010flp.2	+	2	234	c.204C>T	c.(202-204)CAC>CAT	p.H68H	GLI2_uc010yyu.1_Silent_p.H68H|GLI2_uc002tmp.1_Silent_p.H68H|GLI2_uc010fln.1_RNA|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Silent_p.H68H|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Silent_p.H68H	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	68					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				ACATGCGACACCAGGAAGGAA	0.572000												
TUBA3E	112714	broad.mit.edu	37	2	130951495	130951495	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:130951495G>T	uc002tqv.2	-	4	1021	c.920C>A	c.(919-921)CCT>CAT	p.P307H		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	307					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					GCCATGGCGAGGGTCACACTT	0.582000												
RAB3GAP1	22930	broad.mit.edu	37	2	135848572	135848572	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:135848572T>C	uc002tuj.2	+	4	180	c.155T>C	c.(154-156)ATA>ACA	p.I52T	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.I52T|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	52						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)		ATATAGGGTATATTTACTTCT	0.343000												
ZRANB3	84083	broad.mit.edu	37	2	135988401	135988401	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:135988401G>A	uc002tum.2	-	13	1753	c.1636C>T	c.(1636-1638)CGG>TGG	p.R546W	ZRANB3_uc002tuk.2_Missense_Mutation_p.R89W|ZRANB3_uc002tul.2_Missense_Mutation_p.R546W	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	546						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTTTCCTCCCGGAATCTCTTT	0.368000												
THSD7B	80731	broad.mit.edu	37	2	137988713	137988713	+	Missense_Mutation	SNP	C	C	T	rs61741154		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:137988713C>T	uc002tva.1	+	7	1730	c.1730C>T	c.(1729-1731)ACG>ATG	p.T577M	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.T467M	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGCGAGTGGACGGAGTGGTCA	0.517000												
LRP1B	53353	broad.mit.edu	37	2	141607887	141607887	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:141607887A>T	uc002tvj.1	-	29	5695	c.4723T>A	c.(4723-4725)TTT>ATT	p.F1575I	LRP1B_uc010fnl.1_Missense_Mutation_p.F757I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1575	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAAAGAAGAAATTTTTTCATT	0.303000										TSP Lung(27;0.18)		
MBD5	55777	broad.mit.edu	37	2	149227818	149227818	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:149227818T>C	uc002twm.3	+	9	3294	c.2306T>C	c.(2305-2307)GTT>GCT	p.V769A	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.V769A|MBD5_uc002twn.1_Missense_Mutation_p.V210A	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	769						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACTAACTTTGTTCACAGTAAC	0.473000												
NEB	4703	broad.mit.edu	37	2	152347012	152347012	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:152347012G>A	uc010fnx.2	-	147	19794	c.19603C>T	c.(19603-19605)CGG>TGG	p.R6535W	NEB_uc002txr.2_Missense_Mutation_p.R2865W|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Missense_Mutation_p.R304W|NEB_uc002txq.2_Missense_Mutation_p.R414W|NEB_uc010zca.1_Missense_Mutation_p.R366W|NEB_uc010zcb.1_Missense_Mutation_p.R304W	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6535	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GACTGCTCCCGGCTCCGGCGC	0.463000												
KCNH7	90134	broad.mit.edu	37	2	163292018	163292018	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:163292018G>A	uc002uch.1	-	8	1856	c.1644C>T	c.(1642-1644)GGC>GGT	p.G548G	KCNH7_uc002uci.2_Silent_p.G541G	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	548	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	GAACAGCAGCGCCATATTCTG	0.463000												
SCN2A	6326	broad.mit.edu	37	2	166245809	166245809	+	Silent	SNP	A	A	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:166245809A>T	uc002udc.2	+	27	5783	c.5493A>T	c.(5491-5493)ATA>ATT	p.I1831I	SCN2A_uc002udd.2_Silent_p.I1831I|SCN2A_uc002ude.2_Silent_p.I1831I	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1831					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	CTCTTCTCATAGCAAAACCCA	0.463000												
SCN9A	6335	broad.mit.edu	37	2	167055493	167055493	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:167055493G>A	uc010fpl.2	-	27	5964	c.5623C>T	c.(5623-5625)CGG>TGG	p.R1875W	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1886						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTTGTTTCCGTTTTAGTGTG	0.403000												
XIRP2	129446	broad.mit.edu	37	2	168106617	168106617	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:168106617A>C	uc002udx.2	+	8	8733	c.8715A>C	c.(8713-8715)CAA>CAC	p.Q2905H	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q2730H|XIRP2_uc010fpq.2_Missense_Mutation_p.Q2683H|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.Q251H	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2730					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGGGCATACAAGAGAAACAAG	0.383000												
LRP2	4036	broad.mit.edu	37	2	170058203	170058203	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:170058203C>T	uc002ues.2	-	44	8600	c.8387G>A	c.(8386-8388)CGT>CAT	p.R2796H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2796	LDL-receptor class A 18.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GATAAACTCACGAGGTATGCA	0.433000												
SATB2	23314	broad.mit.edu	37	2	200137257	200137257	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:200137257C>A	uc002uuy.1	-	11	2696	c.1879G>T	c.(1879-1881)GGG>TGG	p.G627W	SATB2_uc010fsq.1_Missense_Mutation_p.G509W|SATB2_uc002uuz.1_Missense_Mutation_p.G627W|SATB2_uc002uva.1_Missense_Mutation_p.G627W	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	627	Homeobox.					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGGAGGATCCCCAGGGCTTCT	0.547000												
AOX1	316	broad.mit.edu	37	2	201473845	201473845	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:201473845T>A	uc002uvx.2	+	11	1147	c.1046T>A	c.(1045-1047)ATC>AAC	p.I349N	AOX1_uc010zhf.1_5'Flank|AOX1_uc010fsu.2_5'Flank	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	349	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGGTCCCAGATCAGGAACATG	0.458000												
ALS2	57679	broad.mit.edu	37	2	202626188	202626188	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:202626188C>T	uc002uyo.2	-	4	885	c.529G>A	c.(529-531)GGT>AGT	p.G177S	ALS2_uc002uyp.3_Missense_Mutation_p.G177S|ALS2_uc002uyq.2_Missense_Mutation_p.G177S|ALS2_uc002uyr.2_Missense_Mutation_p.G177S	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	177	RCC1 3.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						AACTGACAACCGGTACCCCAT	0.532000												
PARD3B	117583	broad.mit.edu	37	2	205829969	205829969	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:205829969C>T	uc002var.1	+	3	524	c.317C>T	c.(316-318)ACA>ATA	p.T106I	PARD3B_uc010fub.1_Missense_Mutation_p.T106I|PARD3B_uc002vao.1_Missense_Mutation_p.T106I|PARD3B_uc002vap.1_Missense_Mutation_p.T106I|PARD3B_uc002vaq.1_Missense_Mutation_p.T106I	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	106					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)		GCTTTTGAGACAGAAGTGGCC	0.468000												
PARD3B	117583	broad.mit.edu	37	2	206023539	206023539	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:206023539G>A	uc002var.1	+	11	1735	c.1528G>A	c.(1528-1530)GGG>AGG	p.G510R	PARD3B_uc010fub.1_Missense_Mutation_p.G510R|PARD3B_uc002vao.1_Missense_Mutation_p.G510R|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Missense_Mutation_p.G510R	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	510	PDZ 3.				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)		TGCTGGCCTCGGGGTGAGCTT	0.488000												
RPE	6120	broad.mit.edu	37	2	210880764	210880764	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:210880764G>A	uc002vdn.2	+	3	275	c.270G>A	c.(268-270)CAG>CAA	p.Q90Q	RPE_uc002vdm.2_Silent_p.Q90Q|RPE_uc002vdo.2_Silent_p.Q22Q|RPE_uc010zjf.1_Silent_p.Q90Q|RPE_uc002vdp.2_Silent_p.Q19Q|RPE_uc010fup.2_Silent_p.Q22Q|RPE_uc002vdq.2_Silent_p.Q22Q|RPE_uc002vdr.2_Silent_p.Q22Q	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase isoform 1	90					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity				0				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		GAGCCAATCAGTACACCTTTC	0.438000												
SMARCAL1	50485	broad.mit.edu	37	2	217279576	217279576	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:217279576A>G	uc002vgc.3	+	3	479	c.149A>G	c.(148-150)AAG>AGG	p.K50R	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.K50R|SMARCAL1_uc010fvg.2_Missense_Mutation_p.K50R	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	50					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TTCCAGGCCAAGCAAGGCCCA	0.517000									Schimke_Immuno-Osseous_Dysplasia			
RNF25	64320	broad.mit.edu	37	2	219529010	219529010	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:219529010G>A	uc002vit.2	-	10	1138	c.1050C>T	c.(1048-1050)CCC>CCT	p.P350P	RNF25_uc010fvw.2_Silent_p.P238P	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	350					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTCCGTTCGGGCTGTCGCC	0.617000												
CRYBA2	1412	broad.mit.edu	37	2	219855029	219855029	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:219855029A>C	uc002vjj.1	-	5	574	c.539T>G	c.(538-540)CTC>CGC	p.L180R	CRYBA2_uc002vjk.1_Missense_Mutation_p.L180R	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	180	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens				0		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGTGCCGAGCTCACCGTA	0.612000												
SPEG	10290	broad.mit.edu	37	2	220332024	220332024	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:220332024C>T	uc010fwg.2	+	10	3010	c.3010C>T	c.(3010-3012)CGT>TGT	p.R1004C		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1004	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TTGGCTGTGCCGTGGCCGCCT	0.627000												
FAM124B	79843	broad.mit.edu	37	2	225266179	225266179	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:225266179G>A	uc002vnx.2	-	1	533	c.307C>T	c.(307-309)CGG>TGG	p.R103W	FAM124B_uc002vnw.2_Missense_Mutation_p.R103W	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	103							protein binding			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGCCTTCCCCGAGTGTCCTGG	0.592000												
TM4SF20	79853	broad.mit.edu	37	2	228235653	228235653	+	Missense_Mutation	SNP	G	G	T	rs138005777		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:228235653G>T	uc002vpb.2	-	2	265	c.227C>A	c.(226-228)GCG>GAG	p.A76E		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	76	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GTTGCAGCACGCTCTTTTTCT	0.428000												
ITM2C	81618	broad.mit.edu	37	2	231740484	231740484	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:231740484C>T	uc002vqz.2	+	3	531	c.411C>T	c.(409-411)GGC>GGT	p.G137G	ITM2C_uc002vra.2_Silent_p.G90G|ITM2C_uc002vrb.2_Silent_p.G137G|ITM2C_uc002vrc.2_Silent_p.G26G|ITM2C_uc002vrd.2_Silent_p.G26G	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C isoform 1	137	BRICHOS.				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding				0		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCCAGTTTGGCGGCGGTGACC	0.632000												
HJURP	55355	broad.mit.edu	37	2	234749823	234749823	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:234749823G>A	uc002vvg.2	-	8	1669	c.1603C>T	c.(1603-1605)CGC>TGC	p.R535C	HJURP_uc010znd.1_Missense_Mutation_p.R474C|HJURP_uc010zne.1_Missense_Mutation_p.R443C	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	535					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TGCTGCGGGCGAGTTGCGCTG	0.478000												
UBE2F	140739	broad.mit.edu	37	2	238881818	238881818	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:238881818G>A	uc002vxk.2	+	2	160	c.69G>A	c.(67-69)GCG>GCA	p.A23A	UBE2F_uc010znn.1_Silent_p.A23A|UBE2F_uc002vxl.2_RNA|UBE2F_uc010zno.1_RNA|UBE2F_uc010znp.1_Silent_p.A23A|SCLY_uc002vxm.3_5'UTR	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	NEDD8-conjugating enzyme	23	Interaction with UBA3.				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding				0		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		CAGCCACAGCGTCCGACTCGA	0.458000												
ILKAP	80895	broad.mit.edu	37	2	239079235	239079235	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:239079235G>A	uc002vxv.2	-	12	1251	c.1121C>T	c.(1120-1122)GCG>GTG	p.A374V	ILKAP_uc010zns.1_Missense_Mutation_p.A306V|ILKAP_uc002vxw.2_Missense_Mutation_p.A254V	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated protein	374	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			ovary(3)	3		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CCGCTGCACCGCCTTGTTGGC	0.622000												
OR6B2	389090	broad.mit.edu	37	2	240969019	240969019	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:240969019G>A	uc002vyr.2	-	2	874	c.828C>T	c.(826-828)GCC>GCT	p.A276A	OR6B2_uc010zoc.1_Silent_p.A276A	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CAGTGTACACGGCAGAGATGA	0.488000												
KIF1A	547	broad.mit.edu	37	2	241726711	241726711	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:241726711C>T	uc002vzy.2	-	5	532	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	KIF1A_uc010fzk.2_Missense_Mutation_p.R129Q|KIF1A_uc002vzz.1_Missense_Mutation_p.R129Q	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	129	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GTCGTTGATCCGAGAGAAGAG	0.652000												
ANO7	50636	broad.mit.edu	37	2	242135202	242135202	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:242135202G>T	uc002wax.2	+	4	516	c.413G>T	c.(412-414)AGG>ATG	p.R138M	ANO7_uc002waw.2_Missense_Mutation_p.R137M	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	138	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						GACATGCACAGGACCTGGCGG	0.612000												
SEPT2	4735	broad.mit.edu	37	2	242265515	242265515	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:242265515A>G	uc002wbc.2	+	4	538	c.117A>G	c.(115-117)ACA>ACG	p.T39T	SEPT2_uc002wbd.2_Silent_p.T39T|SEPT2_uc002wbf.2_Silent_p.T39T|SEPT2_uc002wbg.2_Silent_p.T39T|SEPT2_uc002wbh.2_Silent_p.T39T|SEPT2_uc010zop.1_Silent_p.T74T	NM_001008491	NP_001008491	Q15019	SEPT2_HUMAN	septin 2	39					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(1)	1		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TTGAGTTCACACTGATGGTGG	0.373000												
PTPRA	5786	broad.mit.edu	37	20	3007405	3007405	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:3007405C>T	uc010zqd.1	+	17	2037	c.1720C>T	c.(1720-1722)CGT>TGT	p.R574C	PTPRA_uc002whj.2_Missense_Mutation_p.R563C|PTPRA_uc002whk.2_Missense_Mutation_p.R554C|PTPRA_uc002whl.2_Missense_Mutation_p.R554C|PTPRA_uc002whm.2_Missense_Mutation_p.R330C|PTPRA_uc002whn.2_Missense_Mutation_p.R554C|PTPRA_uc002who.2_Missense_Mutation_p.R226C	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	563	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						GAAGAAGAACCGTGTTTTACA	0.468000												
ProSAPiP1	9762	broad.mit.edu	37	20	3147530	3147530	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:3147530C>T	uc002wia.1	-	1	1678	c.280G>A	c.(280-282)GCC>ACC	p.A94T	ProSAPiP1_uc002wib.1_Missense_Mutation_p.A94T	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	94						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						AGGGAGTTGGCGAGACCCTTG	0.682000												
ATRN	8455	broad.mit.edu	37	20	3543988	3543988	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:3543988A>G	uc002wim.2	+	10	1854	c.1764A>G	c.(1762-1764)TCA>TCG	p.S588S	ATRN_uc002wil.2_Silent_p.S588S	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	588	Extracellular (Potential).|Kelch 5.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						GCTTCTCTTCAGATTTCATGG	0.418000												
CENPB	1059	broad.mit.edu	37	20	3766457	3766457	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:3766457A>G	uc002wjk.2	-	1	881	c.674T>C	c.(673-675)CTG>CCG	p.L225P	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	225					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						CAGGACGCTCAGGCGCTGGGT	0.721000												
ADRA1D	146	broad.mit.edu	37	20	4229294	4229294	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:4229294G>A	uc002wkr.2	-	1	366	c.311C>T	c.(310-312)GCA>GTA	p.A104V		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	104	Helical; Name=1; (By similarity).				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity				0					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GATGAAGGCTGCCAGGAAGAc	0.303000												
PLCB1	23236	broad.mit.edu	37	20	8698474	8698474	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:8698474G>A	uc002wnb.2	+	14	1495	c.1492G>A	c.(1492-1494)GAG>AAG	p.E498K	PLCB1_uc010zrb.1_Missense_Mutation_p.E397K|PLCB1_uc002wna.2_Missense_Mutation_p.E498K|PLCB1_uc002wnc.1_Missense_Mutation_p.E397K|PLCB1_uc002wnd.1_Missense_Mutation_p.E75K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	498					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						CAGCATGTTCGAGCCCTCATC	0.458000												
RALGAPA2	57186	broad.mit.edu	37	20	20484084	20484084	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:20484084C>T	uc002wrz.2	-	35	5262	c.5119G>A	c.(5119-5121)GCC>ACC	p.A1707T	RALGAPA2_uc010gcx.2_Missense_Mutation_p.A1411T|RALGAPA2_uc010zsg.1_Missense_Mutation_p.A1155T|RALGAPA2_uc002wsa.1_Missense_Mutation_p.A479T	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1707	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						TAGTAAGGGGCCGTCTGCCCG	0.517000												
SSTR4	6754	broad.mit.edu	37	20	23016316	23016316	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:23016316G>T	uc002wsr.2	+	1	260	c.196G>T	c.(196-198)GCC>TCC	p.A66S		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	66	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTGGGCAACGCCCTGGTCAT	0.507000												
CD93	22918	broad.mit.edu	37	20	23065176	23065176	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:23065176C>T	uc002wsv.2	-	1	1802	c.1654G>A	c.(1654-1656)GCC>ACC	p.A552T		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	552	Extracellular (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGCTGTGGCGTGATGGATG	0.617000												
C20orf3	57136	broad.mit.edu	37	20	24952096	24952096	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:24952096G>A	uc002wty.2	-	5	639	c.538C>T	c.(538-540)CGT>TGT	p.R180C	C20orf3_uc002wtz.2_Missense_Mutation_p.R180C|C20orf3_uc010zsw.1_Missense_Mutation_p.R180C	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN	chromosome 20 open reading frame 3	180	Extracellular (Potential).				biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity			ovary(1)	1						TGTCACATACGTTTCCAGGGA	0.418000												
ACSS1	84532	broad.mit.edu	37	20	24994689	24994689	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:24994689C>T	uc002wub.2	-	9	2238	c.1360G>A	c.(1360-1362)GCA>ACA	p.A454T	ACSS1_uc002wuc.2_Missense_Mutation_p.A452T|ACSS1_uc010gdc.2_Missense_Mutation_p.A249T|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.A371T	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	454					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)	GGCCGTGGTGCGATGCAGATG	0.567000												
NECAB3	63941	broad.mit.edu	37	20	32246607	32246607	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:32246607C>T	uc002wzn.3	-	9	1019	c.913G>A	c.(913-915)GCA>ACA	p.A305T	NECAB3_uc002wzl.2_Missense_Mutation_p.A50T|NECAB3_uc002wzm.3_Missense_Mutation_p.A271T|NECAB3_uc002wzo.3_RNA|NECAB3_uc002wzp.3_Missense_Mutation_p.A198T|NECAB3_uc002wzq.3_Missense_Mutation_p.A253T|NECAB3_uc002wzr.3_RNA|NECAB3_uc010geo.2_Missense_Mutation_p.A271T	NM_031232	NP_112509	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	305	ABM.				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			lung(1)	1						CCTTCCTCTGCCACCTGGACC	0.672000												
TP53INP2	58476	broad.mit.edu	37	20	33297184	33297184	+	Missense_Mutation	SNP	G	G	A	rs143925581	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:33297184G>A	uc002xau.1	+	4	604	c.269G>A	c.(268-270)CGC>CAC	p.R90H		NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	90						nucleus					0						GGTCCCGCCCGCCTCCAGAGC	0.562000												
GGT7	2686	broad.mit.edu	37	20	33450750	33450750	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:33450750C>T	uc002xay.2	-	3	467	c.424G>A	c.(424-426)GTG>ATG	p.V142M	GGT7_uc002xaz.1_Missense_Mutation_p.V159M|GGT7_uc002xba.1_Missense_Mutation_p.V142M	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	142	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1						TCGGTCACCACGGCACCCTGC	0.612000												
BPI	671	broad.mit.edu	37	20	36939000	36939000	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:36939000G>A	uc002xib.2	+	4	556	c.494G>A	c.(493-495)AGC>AAC	p.S165N		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	165					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)				ACCTGCTCCAGCTGCAGCAGC	0.552000												
L3MBTL	26013	broad.mit.edu	37	20	42161428	42161428	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:42161428G>T	uc010zwh.1	+	12	1280	c.1234G>T	c.(1234-1236)GGC>TGC	p.G412C	L3MBTL_uc002xkl.2_Missense_Mutation_p.G344C|L3MBTL_uc002xkm.2_Missense_Mutation_p.G344C|L3MBTL_uc010ggl.2_Missense_Mutation_p.G344C|L3MBTL_uc002xkn.1_Missense_Mutation_p.G103C|L3MBTL_uc002xko.2_5'UTR	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	344	MBT 2.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCACCCCTGGGCTTCCAGGT	0.602000												
MMP9	4318	broad.mit.edu	37	20	44639956	44639956	+	Splice_Site	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:44639956G>A	uc002xqz.2	+	5	842	c.823_splice	c.e5+1	p.R275_splice		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein						collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCCAGCGAGAGTGAGTGAGGG	0.512000												
ARFGEF2	10564	broad.mit.edu	37	20	47567893	47567893	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:47567893G>A	uc002xtx.3	+	4	462	c.310G>A	c.(310-312)GCC>ACC	p.A104T		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	104					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CACTGGCAACGCCCCTGACAG	0.512000												
PTGIS	5740	broad.mit.edu	37	20	48156225	48156225	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:48156225C>T	uc002xut.2	-	5	609	c.555G>A	c.(553-555)GCG>GCA	p.A185A	PTGIS_uc010zyi.1_Silent_p.A46A	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	185					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TGCGTGGCAGCGCCTCAATTC	0.632000												
ATP9A	10079	broad.mit.edu	37	20	50235243	50235243	+	Missense_Mutation	SNP	G	G	A	rs138665384	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:50235243G>A	uc002xwg.1	-	21	2308	c.2308C>T	c.(2308-2310)CGC>TGC	p.R770C	ATP9A_uc010gih.1_Missense_Mutation_p.R634C|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	770	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						TGAAGCAGGCGCACGATCTGG	0.647000												
MC3R	4159	broad.mit.edu	37	20	54824580	54824580	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:54824580C>T	uc002xxb.2	+	1	793	c.681C>T	c.(679-681)GCC>GCT	p.A227A		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	264	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			TGCCACCTGCCGACGGGGTGG	0.602000												
DIDO1	11083	broad.mit.edu	37	20	61525801	61525801	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:61525801C>A	uc002ydr.1	-	11	2800	c.2536G>T	c.(2536-2538)GCA>TCA	p.A846S	DIDO1_uc002yds.1_Missense_Mutation_p.A846S|DIDO1_uc002ydt.1_Missense_Mutation_p.A846S|DIDO1_uc002ydu.1_Missense_Mutation_p.A846S	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	846					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					AAGAGGTGTGCGCGGTGCTGA	0.512000												
CHRNA4	1137	broad.mit.edu	37	20	61978135	61978135	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:61978135C>T	uc002yes.2	-	6	2017	c.1839G>A	c.(1837-1839)GGG>GGA	p.G613G	CHRNA4_uc002yet.1_Silent_p.G437G|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.G542G|CHRNA4_uc002yev.1_Silent_p.G437G|CHRNA4_uc010gkf.1_Silent_p.G437G	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	613	Helical; (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGCCCACCGTCCCCAGCAGGC	0.647000												
MYT1	4661	broad.mit.edu	37	20	62838987	62838987	+	Silent	SNP	C	C	T	rs142929665		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:62838987C>T	uc002yii.2	+	7	802	c.438C>T	c.(436-438)ATC>ATT	p.I146I	MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	146					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCAACCCCATCGGCAGCGCCA	0.562000												
ADAMTS5	11096	broad.mit.edu	37	21	28337989	28337989	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:28337989T>A	uc002ymg.2	-	1	1451	c.722A>T	c.(721-723)CAG>CTG	p.Q241L		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	241					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GAGAGCGGACTGGTCCAAGAG	0.731000												
RWDD2B	10069	broad.mit.edu	37	21	30380774	30380774	+	Missense_Mutation	SNP	C	C	T	rs146828876	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:30380774C>T	uc002yms.2	-	2	323	c.236G>A	c.(235-237)CGA>CAA	p.R79Q	RWDD2B_uc002ymt.2_Missense_Mutation_p.R50Q|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_5'UTR	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	79	RWD.										0						TTTTGAAGATCGCCCCTCCAT	0.393000												
KRTAP19-7	337974	broad.mit.edu	37	21	31933432	31933432	+	Silent	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:31933432A>C	uc011adb.1	-	1	177	c.177T>G	c.(175-177)TCT>TCG	p.S59S		NM_181614	NP_853645	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	59						intermediate filament					0						AGAATCCAGAAGACCAGTATC	0.443000												
KRTAP11-1	337880	broad.mit.edu	37	21	32253783	32253783	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:32253783C>T	uc002yov.2	-	1	92	c.61G>A	c.(61-63)GTT>ATT	p.V21I		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	21						keratin filament	structural molecule activity			pancreas(1)	1						GCCACTGGAACAATGCAGCGT	0.547000												
HUNK	30811	broad.mit.edu	37	21	33370838	33370838	+	Splice_Site	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:33370838G>A	uc002yph.2	+	11	1847	c.1487_splice	c.e11-1	p.D496_splice		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase						multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						TTGGTGTGCAGATTCCTTTGG	0.537000												
SYNJ1	8867	broad.mit.edu	37	21	34012041	34012041	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:34012041G>A	uc002yqh.2	-	30	3754	c.3754C>T	c.(3754-3756)CGG>TGG	p.R1252W	SYNJ1_uc011ads.1_Missense_Mutation_p.R1166W|SYNJ1_uc002yqf.2_Missense_Mutation_p.R1197W|SYNJ1_uc002yqg.2_Missense_Mutation_p.R1166W|SYNJ1_uc002yqi.2_Missense_Mutation_p.R1252W|SYNJ1_uc002yqe.3_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1213	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						GCAGATGCCCGCGCGTGGCTC	0.413000												
SLC5A3	6526	broad.mit.edu	37	21	35467627	35467627	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:35467627C>T	uc002yto.2	+	2	642	c.130C>T	c.(130-132)CGC>TGC	p.R44C	MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	solute carrier family 5 (inositol transporters),	44	Helical; (Potential).					integral to plasma membrane	myo-inositol:sodium symporter activity			ovary(2)	2						CCTGGCGGGGCGCTCTATGAC	0.488000												
DSCAM	1826	broad.mit.edu	37	21	41559141	41559141	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:41559141C>T	uc002yyq.1	-	14	3148	c.2696G>A	c.(2695-2697)CGC>CAC	p.R899H	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	899	Extracellular (Potential).|Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGTAATTGTGCGTGCTTTGAC	0.438000												
RIPK4	54101	broad.mit.edu	37	21	43161712	43161712	+	Silent	SNP	G	G	A	rs150110999		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:43161712G>A	uc002yzn.1	-	8	1689	c.1641C>T	c.(1639-1641)CAC>CAT	p.H547H		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	547						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						TCTCCTGCCCGTGCTGGCAGG	0.657000												
UMODL1	89766	broad.mit.edu	37	21	43496223	43496223	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:43496223C>T	uc002zaf.1	+	2	186	c.186C>T	c.(184-186)GGC>GGT	p.G62G	UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Silent_p.G62G|uc002zah.1_RNA	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	62	Extracellular (Potential).|EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						TGTCCTGCGGCGGCTGGATCC	0.607000												
AIRE	326	broad.mit.edu	37	21	45706903	45706903	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:45706903C>T	uc002zei.2	+	3	477	c.350C>T	c.(349-351)GCC>GTC	p.A117V		NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1	117					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)		AAGCCCCCGGCCGTCCCCAAG	0.672000									Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy			
COL18A1	80781	broad.mit.edu	37	21	46888235	46888235	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr21:46888235C>T	uc011afs.1	+	2	1452	c.1431C>T	c.(1429-1431)CCC>CCT	p.P477P	COL18A1_uc002zhg.2_Silent_p.P62P|COL18A1_uc002zhi.2_Silent_p.P242P	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	477	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGGATGACCCCGACGTCGGGC	0.632000												
GAB4	128954	broad.mit.edu	37	22	17444669	17444669	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:17444669C>T	uc002zlw.2	-	9	1635	c.1527G>A	c.(1525-1527)CCG>CCA	p.P509P		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	509										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGCTCCTCGGCGGGGCTGAAC	0.617000												
MICAL3	57553	broad.mit.edu	37	22	18387473	18387473	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:18387473T>C	uc002zng.3	-	3	750	c.397A>G	c.(397-399)ACC>GCC	p.T133A	MICAL3_uc011agl.1_Missense_Mutation_p.T133A|MICAL3_uc002znh.2_Missense_Mutation_p.T133A|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Missense_Mutation_p.T133A|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Missense_Mutation_p.T133A|MICAL3_uc011agm.1_Missense_Mutation_p.T133A	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	133						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		TCATGTATGGTGAATGGCCAG	0.483000												
P2RX6	9127	broad.mit.edu	37	22	21372319	21372319	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:21372319G>A	uc010gsu.1	+	3	357	c.357G>A	c.(355-357)ACG>ACA	p.T119T	P2RX6_uc002ztz.2_Silent_p.T93T|P2RX6_uc010gst.1_3'UTR|P2RX6_uc002zua.2_Intron|P2RX6_uc002zuc.1_RNA	NM_005446	NP_005437	O15547	P2RX6_HUMAN	purinergic receptor P2X6 isoform 1	119	Extracellular (Potential).				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0						TCCTTGTGACGCCAGCCCAAG	0.592000												
RTDR1	27156	broad.mit.edu	37	22	23406130	23406130	+	Silent	SNP	G	G	A	rs117158573	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:23406130G>A	uc002zwt.2	-	5	761	c.603C>T	c.(601-603)AGC>AGT	p.S201S		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region protein 1	201							binding			ovary(1)	1	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		TCTGGTTGGCGCTGAGGAGCT	0.612000												
MMP11	4320	broad.mit.edu	37	22	24124566	24124566	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:24124566G>A	uc002zxx.2	+	7	1251	c.1229G>A	c.(1228-1230)CGT>CAT	p.R410H	MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_RNA	NM_005940	NP_005931	P24347	MMP11_HUMAN	matrix metalloproteinase 11 preproprotein	410	Hemopexin-like 3.				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)				GACTACTGGCGTTTCCACCCC	0.602000												
CABIN1	23523	broad.mit.edu	37	22	24515545	24515545	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:24515545G>A	uc002zzi.1	+	28	4639	c.4512G>A	c.(4510-4512)CAG>CAA	p.Q1504Q	CABIN1_uc002zzj.1_Silent_p.Q1425Q|CABIN1_uc002zzl.1_Silent_p.Q1504Q	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1504					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						CTGAGGAGCAGCGGCAGTTTC	0.637000												
SNRPD3	6634	broad.mit.edu	37	22	24964106	24964106	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:24964106G>T	uc003aam.1	+	3	721	c.281G>T	c.(280-282)GGG>GTG	p.G94V	SNRPD3_uc011aju.1_Missense_Mutation_p.G94V	NM_004175	NP_004166	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein polypeptide D3	94	Arg/Lys-rich (basic).				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			ovary(1)	1						CAAGGCTCAGGGGCTGGCCGA	0.448000												
ASCC2	84164	broad.mit.edu	37	22	30189452	30189452	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:30189452G>A	uc003agr.2	-	17	1921	c.1816C>T	c.(1816-1818)CCC>TCC	p.P606S	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.P606S|ASCC2_uc011akr.1_Missense_Mutation_p.P530S	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTGTGGTAGGGCAGGCTCTCG	0.607000												
GAL3ST1	9514	broad.mit.edu	37	22	30951991	30951991	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:30951991G>A	uc003aig.1	-	4	361	c.221C>T	c.(220-222)CCG>CTG	p.P74L	GAL3ST1_uc003aih.1_Missense_Mutation_p.P74L|GAL3ST1_uc003aii.1_Missense_Mutation_p.P74L|GAL3ST1_uc010gvz.1_Missense_Mutation_p.P74L	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	74	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						GTTGCGCCGCGGCTGGCACTC	0.672000												
DEPDC5	9681	broad.mit.edu	37	22	32270319	32270319	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:32270319G>A	uc003als.2	+	35	3673	c.3531G>A	c.(3529-3531)GCG>GCA	p.A1177A	DEPDC5_uc011als.1_Silent_p.A1108A|DEPDC5_uc011alu.1_Silent_p.A1208A|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.A1199A|DEPDC5_uc003alu.2_Silent_p.A626A|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Silent_p.A475A|DEPDC5_uc011alx.1_Silent_p.A25A|DEPDC5_uc010gwk.2_Silent_p.A203A|DEPDC5_uc011aly.1_Silent_p.A25A	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1177	DEP.				intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						TCATCAGCGCGGAGGTGGTAC	0.592000												
SSTR3	6753	broad.mit.edu	37	22	37602837	37602837	+	Missense_Mutation	SNP	G	G	A	rs4988469	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:37602837G>A	uc003ara.2	-	2	1068	c.1006C>T	c.(1006-1008)CGC>TGC	p.R336C	SSTR3_uc003arb.2_Missense_Mutation_p.R336C	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	336	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						TCCTGGCTGCGCACACGGCGG	0.542000												
CYTH4	27128	broad.mit.edu	37	22	37699399	37699399	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:37699399C>T	uc003arf.2	+	8	768	c.652C>T	c.(652-654)CGC>TGC	p.R218C	CYTH4_uc003are.2_Missense_Mutation_p.R218C|CYTH4_uc011amw.1_Missense_Mutation_p.R161C|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	218	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						GTCCATGAACCGCGGCATCAA	0.622000												
ELFN2	114794	broad.mit.edu	37	22	37769395	37769395	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:37769395C>T	uc003asq.3	-	3	2966	c.2180G>A	c.(2179-2181)CGC>CAC	p.R727H		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	727	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					GAAGGACACGCGCTGGCTCAG	0.647000												
SUN2	25777	broad.mit.edu	37	22	39146966	39146966	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:39146966G>A	uc003awh.1	-	5	645	c.361C>T	c.(361-363)CGC>TGC	p.R121C	SUN2_uc011anz.1_Missense_Mutation_p.R156C|SUN2_uc011aoa.1_Intron|SUN2_uc003awi.1_Missense_Mutation_p.R121C|SUN2_uc010gxq.1_Missense_Mutation_p.R121C|SUN2_uc010gxr.1_Missense_Mutation_p.R121C|SUN2_uc010gxs.1_Missense_Mutation_p.R121C	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	121	Nuclear.|Ser-rich.|LMNA-binding (By similarity).				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			large_intestine(1)|skin(1)	2						GTGGCCTTGCGCCCCACAAGC	0.662000												
MGAT3	4248	broad.mit.edu	37	22	39883815	39883815	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:39883815G>A	uc003axv.3	+	2	702	c.463G>A	c.(463-465)GCC>ACC	p.A155T	MGAT3_uc010gxy.2_Missense_Mutation_p.A155T	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	155	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					CCTCCTGAGCGCCCGGGAGCG	0.766000												
RANGAP1	5905	broad.mit.edu	37	22	41650390	41650390	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:41650390C>T	uc003azs.2	-	10	2652	c.1182G>A	c.(1180-1182)GAG>GAA	p.E394E	RANGAP1_uc003azt.2_Silent_p.E394E|RANGAP1_uc003azu.2_Silent_p.E394E|RANGAP1_uc003azr.2_5'Flank|RANGAP1_uc010gyk.2_5'Flank|RANGAP1_uc011aoz.1_Silent_p.E339E	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	394	Asp/Glu-rich (highly acidic).|Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						Gctcttcttcctcctcctcct	0.264000												
ALG12	79087	broad.mit.edu	37	22	50304114	50304114	+	Missense_Mutation	SNP	C	C	T	rs121907932		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:50304114C>T	uc003biy.2	-	4	711	c.437G>A	c.(436-438)CGG>CAG	p.R146Q		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	146	Helical; (Potential).		R -> Q (in CDG1G).		dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane					0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCAGTGTCCGCGTGCAGTA	0.637000												
LMF2	91289	broad.mit.edu	37	22	50942825	50942825	+	Silent	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:50942825G>T	uc003blp.2	-	12	1693	c.1662C>A	c.(1660-1662)CCC>CCA	p.P554P	LMF2_uc010hba.2_Silent_p.P376P|LMF2_uc003blo.2_Silent_p.P529P	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	554						endoplasmic reticulum membrane|integral to membrane				breast(1)	1		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGACGTAGGTGGGCGGCTGCT	0.632000												
C3orf32	51066	broad.mit.edu	37	3	8669438	8669438	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:8669438C>T	uc003bqu.2	-	8	800	c.554G>A	c.(553-555)CGC>CAC	p.R185H	C3orf32_uc003bqz.2_Missense_Mutation_p.R185H|C3orf32_uc003bqt.2_Missense_Mutation_p.R134H|C3orf32_uc011atg.1_Missense_Mutation_p.R207H|C3orf32_uc003bqv.2_Missense_Mutation_p.R134H|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.R185H	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066	185	Cys-rich.									skin(1)	1						CTTGGCTTTGCGCTTGGCTCC	0.667000												
SLC6A6	6533	broad.mit.edu	37	3	14489254	14489254	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:14489254C>T	uc010heg.2	+	12	820	c.529C>T	c.(529-531)CGC>TGC	p.R177C	SLC6A6_uc003byp.2_Missense_Mutation_p.R177C|SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Missense_Mutation_p.R177C|SLC6A6_uc003byr.2_RNA	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	177	Extracellular (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1						GGACACCATGCGCAAGAACAA	0.557000												
MRPS25	64432	broad.mit.edu	37	3	15094033	15094033	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:15094033T>C	uc003bzl.2	-	4	552	c.437A>G	c.(436-438)CAG>CGG	p.Q146R	MRPS25_uc011avl.1_Missense_Mutation_p.R117G|MRPS25_uc011avm.1_Intron	NM_022497	NP_071942	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	146					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome				0						GCAGGGCACCTGCCCTTCCAC	0.592000												
ZNF385D	79750	broad.mit.edu	37	3	21462764	21462764	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:21462764C>T	uc003cce.2	-	8	1538	c.1130G>A	c.(1129-1131)CGG>CAG	p.R377Q		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	377						nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						AGGAGCTGGCCGCAGGAGTGC	0.453000												
NEK10	152110	broad.mit.edu	37	3	27183068	27183068	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:27183068C>T	uc010hfk.2	-	12	1211	c.982G>A	c.(982-984)GCA>ACA	p.A328T	NEK10_uc010hfj.2_Missense_Mutation_p.A271T			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	1016							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						GCAATTCCTGCTGATGCTGTG	0.348000												
NEK10	152110	broad.mit.edu	37	3	27346260	27346260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:27346260G>A	uc003cdt.1	-	13	1280	c.1006C>T	c.(1006-1008)CAG>TAG	p.Q336*		NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	336							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						TGAAGAAGCTGTTTGATGCCT	0.483000												
CMTM7	112616	broad.mit.edu	37	3	32495741	32495741	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:32495741G>A	uc003cey.1	+	5	759	c.523G>A	c.(523-525)GTC>ATC	p.V175I	CMTM7_uc003cez.1_Missense_Mutation_p.V142I	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	175					chemotaxis	extracellular space|integral to membrane	cytokine activity				0						AGATGCAGCCGTCTGATGAGG	0.587000												
TRANK1	9881	broad.mit.edu	37	3	36898206	36898206	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:36898206C>T	uc003cgj.2	-	3	1527	c.1225G>A	c.(1225-1227)GAG>AAG	p.E409K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	959					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						CTGCCCTTCTCGGCCTCTGTG	0.483000												
SCN10A	6336	broad.mit.edu	37	3	38768331	38768331	+	Silent	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:38768331G>T	uc003ciq.2	-	16	2853	c.2853C>A	c.(2851-2853)CTC>CTA	p.L951L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	951					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGAGAGTGGGAGTTTCACCA	0.602000												
LIMD1	8994	broad.mit.edu	37	3	45637565	45637565	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:45637565G>A	uc003coq.2	+	1	1243	c.1194G>A	c.(1192-1194)GAG>GAA	p.E398E		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	398					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCCTGCCTGAGTTATCTTGTA	0.622000												
CCR3	1232	broad.mit.edu	37	3	46307111	46307111	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:46307111C>A	uc003cpg.1	+	4	1005	c.462C>A	c.(460-462)AGC>AGA	p.S154R	CCR3_uc003cpi.1_Missense_Mutation_p.S154R|CCR3_uc003cpj.1_Missense_Mutation_p.S154R|CCR3_uc003cpk.1_Missense_Mutation_p.S175R|CCR3_uc010hjb.1_Missense_Mutation_p.S172R|CCR3_uc003cpl.1_Missense_Mutation_p.S187R	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	154	Helical; Name=4; (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TCATCACCAGCATCGTCACCT	0.488000												
KLHL18	23276	broad.mit.edu	37	3	47378106	47378106	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:47378106G>T	uc003crd.2	+	7	1106	c.980G>T	c.(979-981)AGC>ATC	p.S327I	KLHL18_uc003crc.2_Missense_Mutation_p.S327I|KLHL18_uc011bav.1_Missense_Mutation_p.S215I|KLHL18_uc010hjq.1_Missense_Mutation_p.S183I	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	327	Kelch 1.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ACAGCCCGCAGCCGCGTTGGC	0.567000												
KLHL18	23276	broad.mit.edu	37	3	47378108	47378108	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:47378108C>T	uc003crd.2	+	7	1108	c.982C>T	c.(982-984)CGC>TGC	p.R328C	KLHL18_uc003crc.2_Missense_Mutation_p.R328C|KLHL18_uc011bav.1_Missense_Mutation_p.R216C|KLHL18_uc010hjq.1_Missense_Mutation_p.R184C	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	328	Kelch 1.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		AGCCCGCAGCCGCGTTGGCGT	0.567000												
CELSR3	1951	broad.mit.edu	37	3	48698167	48698167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:48698167G>A	uc003cul.2	-	1	2182	c.1901C>T	c.(1900-1902)ACG>ATG	p.T634M	CELSR3_uc003cuf.1_Missense_Mutation_p.T704M	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	634	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCAGGCCCGTGTTGTTGGA	0.572000												
LAMB2	3913	broad.mit.edu	37	3	49166186	49166186	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:49166186C>T	uc003cwe.2	-	14	2097	c.1798G>A	c.(1798-1800)GTG>ATG	p.V600M	LAMB2_uc003cwf.1_Missense_Mutation_p.V600M	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	600	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTAGCCGCACGAAGCCTGAG	0.617000												
RNF123	63891	broad.mit.edu	37	3	49743092	49743092	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:49743092G>A	uc003cxh.2	+	24	2370	c.2284G>A	c.(2284-2286)GTA>ATA	p.V762I	RNF123_uc010hky.1_Missense_Mutation_p.V424I|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	762						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CAACCTCAGCGTACACCAGCA	0.622000												
GMPPB	29925	broad.mit.edu	37	3	49760467	49760467	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:49760467C>T	uc003cxk.1	-	4	565	c.340G>A	c.(340-342)GAT>AAT	p.D114N	GMPPB_uc003cxl.1_Missense_Mutation_p.D114N	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B isoform 2	114					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGGGGAAATCGCAGATCACG	0.607000												
MON1A	84315	broad.mit.edu	37	3	49949043	49949043	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:49949043C>A	uc003cxz.2	-	3	946	c.820G>T	c.(820-822)GCA>TCA	p.A274S	MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	177							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTGGAAAGTGCCTCCTCAGAC	0.592000												
MON1A	84315	broad.mit.edu	37	3	49949063	49949063	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:49949063G>A	uc003cxz.2	-	3	926	c.800C>T	c.(799-801)TCC>TTC	p.S267F	MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	170							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCCATAGCGGGAGTACACAGG	0.597000												
ITIH3	3699	broad.mit.edu	37	3	52838744	52838744	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:52838744G>A	uc003dfv.2	+	15	1903	c.1867G>A	c.(1867-1869)GCA>ACA	p.A623T	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	623					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCTGCAGATGCAGAAGGTAA	0.557000												
WNT5A	7474	broad.mit.edu	37	3	55513591	55513591	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:55513591A>G	uc003dhn.2	-	3	460	c.142T>C	c.(142-144)TCG>CCG	p.S48P	WNT5A_uc003dhm.2_Missense_Mutation_p.S33P|WNT5A_uc010hmw.2_Missense_Mutation_p.S33P|WNT5A_uc010hmx.2_Intron	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	48					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		ATACCTAGCGACCTGCAAGGG	0.468000												
PTPRG	5793	broad.mit.edu	37	3	62189448	62189448	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:62189448G>T	uc003dlb.2	+	12	2698	c.1979G>T	c.(1978-1980)AGG>ATG	p.R660M	PTPRG_uc003dlc.2_Missense_Mutation_p.R660M	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	660	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGCGGAAGGAGGGATGCCGGC	0.652000												
THOC7	80145	broad.mit.edu	37	3	63825431	63825431	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:63825431C>T	uc003dlt.3	-	2	169	c.38G>A	c.(37-39)CGT>CAT	p.R13H	C3orf49_uc003dls.3_Intron|THOC7_uc003dlu.3_Intron	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Ngg1 interacting factor 3 like 1 binding protein	13					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		AATGAGGAGACGCTTCCGTAT	0.438000												
PDZRN3	23024	broad.mit.edu	37	3	73450150	73450150	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:73450150C>T	uc003dpl.1	-	5	1273	c.1177G>A	c.(1177-1179)GCC>ACC	p.A393T	PDZRN3_uc011bgh.1_Missense_Mutation_p.A50T|PDZRN3_uc010hoe.1_Missense_Mutation_p.A91T|PDZRN3_uc011bgf.1_Missense_Mutation_p.A110T|PDZRN3_uc011bgg.1_Missense_Mutation_p.A113T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	393							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TATTCATGGGCTGAGGGATGC	0.478000												
ROBO1	6091	broad.mit.edu	37	3	78796020	78796020	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:78796020G>A	uc003dqe.2	-	5	738	c.530C>T	c.(529-531)TCG>TTG	p.S177L	ROBO1_uc003dqb.2_Missense_Mutation_p.S138L|ROBO1_uc003dqc.2_Missense_Mutation_p.S138L|ROBO1_uc003dqd.2_Missense_Mutation_p.S138L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	177	Extracellular (Potential).|Ig-like C2-type 2.				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)		CATGACATCCGAAGGGTTTTG	0.458000												
FILIP1L	11259	broad.mit.edu	37	3	99569681	99569681	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:99569681C>A	uc003dtm.2	-	5	1302	c.839G>T	c.(838-840)AGA>ATA	p.R280I	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.R280I|FILIP1L_uc010hpf.2_Intron|FILIP1L_uc010hpg.2_Missense_Mutation_p.R40I|FILIP1L_uc003dtn.2_Missense_Mutation_p.R40I|FILIP1L_uc003dtp.1_Missense_Mutation_p.R40I	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	280	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						CTCCTGAACTCTGGCTTCAGC	0.483000												
CEP97	79598	broad.mit.edu	37	3	101445494	101445494	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:101445494T>C	uc003dvk.1	+	2	127	c.100T>C	c.(100-102)TGT>CGT	p.C34R	CEP97_uc010hpm.1_Missense_Mutation_p.C34R|CEP97_uc011bhf.1_Missense_Mutation_p.C34R|CEP97_uc003dvl.1_5'Flank	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	34						centrosome|nucleus	protein binding			ovary(2)	2						AAATTTACCCTGTGAAGCTGA	0.328000												
SEMA5B	54437	broad.mit.edu	37	3	122646705	122646705	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:122646705G>T	uc003efz.1	-	8	1086	c.782C>A	c.(781-783)GCC>GAC	p.A261D	SEMA5B_uc011bju.1_Missense_Mutation_p.A203D|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A261D|SEMA5B_uc010hro.1_Missense_Mutation_p.A203D|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	261	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GCGGTAGATGGCAGGGTCCCG	0.622000												
CCDC14	64770	broad.mit.edu	37	3	123667978	123667978	+	Silent	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:123667978T>C	uc011bjx.1	-	6	589	c.498A>G	c.(496-498)TCA>TCG	p.S166S	CCDC14_uc003egv.3_5'UTR|CCDC14_uc003egx.3_5'UTR|CCDC14_uc010hrt.2_Silent_p.A125A|CCDC14_uc003egy.3_5'UTR|CCDC14_uc003egz.2_5'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	166						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TATCTGAAGATGCTAATGTGG	0.343000												
KALRN	8997	broad.mit.edu	37	3	124281775	124281775	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:124281775C>T	uc003ehg.2	+	34	5142	c.5015C>T	c.(5014-5016)ACG>ATG	p.T1672M	KALRN_uc003ehi.2_Missense_Mutation_p.T45M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1672	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GTGGGGCAGACGGTAGAGCTG	0.662000												
ROPN1B	152015	broad.mit.edu	37	3	125701213	125701213	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:125701213C>T	uc003eih.2	+	5	725	c.497C>T	c.(496-498)ACG>ATG	p.T166M	ROPN1B_uc010hsb.2_Missense_Mutation_p.T166M|ROPN1B_uc010hsc.2_Missense_Mutation_p.T74M	NM_001012337	NP_001012337	Q9BZX4	ROP1B_HUMAN	ropporin, rhophilin associated protein 1B	166					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity				0				GBM - Glioblastoma multiforme(114;0.151)		TTTCTCTACACGTATATTGCC	0.438000												
ALDH1L1	10840	broad.mit.edu	37	3	125844513	125844513	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:125844513C>T	uc003eim.1	-	15	1936	c.1746G>A	c.(1744-1746)TGG>TGA	p.W582*	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Nonsense_Mutation_p.W481*	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	582	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CAGCTGTCTTCCAGGACAGCA	0.587000												
CHST13	166012	broad.mit.edu	37	3	126260961	126260961	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:126260961C>T	uc003eja.2	+	3	566	c.566C>T	c.(565-567)GCG>GTG	p.A189V		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	carbohydrate sulfotransferase 13	189	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.151)		AACAAGCTCGCGCGCCCCTAC	0.557000												
PLXNA1	5361	broad.mit.edu	37	3	126707619	126707619	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:126707619C>T	uc003ejg.2	+	1	118	c.114C>T	c.(112-114)GGC>GGT	p.G38G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	61	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		AGCAGACAGGCGAGGTGTATG	0.652000												
IFT122	55764	broad.mit.edu	37	3	129198657	129198657	+	Silent	SNP	C	C	T	rs142641511	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:129198657C>T	uc003emm.2	+	13	1586	c.1380C>T	c.(1378-1380)AGC>AGT	p.S460S	IFT122_uc003eml.2_Silent_p.S511S|IFT122_uc003emn.2_Silent_p.S401S|IFT122_uc003emo.2_Silent_p.S349S|IFT122_uc003emp.2_Silent_p.S310S|IFT122_uc010htc.2_Silent_p.S452S|IFT122_uc011bky.1_Silent_p.S251S|IFT122_uc003emq.2_Silent_p.S300S|IFT122_uc003emr.2_Silent_p.S251S|IFT122_uc011bla.1_Silent_p.S251S|IFT122_uc011bkx.1_Silent_p.S300S|IFT122_uc011bkz.1_RNA|IFT122_uc010htd.1_5'Flank	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	460					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						TGTCCTTCAGCGGAGTGAAGG	0.547000												
ASTE1	28990	broad.mit.edu	37	3	130732962	130732962	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:130732962C>T	uc003env.1	-	6	2421	c.1979G>A	c.(1978-1980)CGG>CAG	p.R660Q	ATP2C1_uc011blh.1_Intron|ATP2C1_uc011bli.1_Intron|ATP2C1_uc003enm.2_Intron|ATP2C1_uc003enn.2_Intron|ATP2C1_uc003enp.2_Intron|ATP2C1_uc003enr.2_Intron|ATP2C1_uc003ens.2_Intron|ATP2C1_uc003ent.2_Intron|ASTE1_uc010htm.1_Missense_Mutation_p.R685Q|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	660					DNA repair		nuclease activity				0						CAACCCAAACCGGTTGTTTCC	0.373000												
ZBTB38	253461	broad.mit.edu	37	3	141164326	141164326	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:141164326C>T	uc003etw.2	+	8	4078	c.3096C>T	c.(3094-3096)CAC>CAT	p.H1032H	ZBTB38_uc010hun.2_Silent_p.H1029H|ZBTB38_uc010huo.2_Silent_p.H1032H|ZBTB38_uc003ety.2_Silent_p.H1032H|ZBTB38_uc010hup.2_Silent_p.H1033H	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1032	C2H2-type 6.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TGAGATGTCACACCGGGGAGA	0.547000												
FAM194A	131831	broad.mit.edu	37	3	150421519	150421519	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:150421519A>T	uc003eyg.2	-	1	224	c.167T>A	c.(166-168)GTG>GAG	p.V56E	FAM194A_uc003eyh.2_Intron	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	56	Glu-rich.									skin(2)|ovary(1)	3						ctcctcctccaccacctcctc	0.199000												
SERPINI1	5274	broad.mit.edu	37	3	167507093	167507093	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:167507093G>C	uc003ffa.3	+	2	375	c.177G>C	c.(175-177)ATG>ATC	p.M59I	SERPINI1_uc003ffb.3_Missense_Mutation_p.M59I	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN	neuroserpin precursor	59					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(1)	1						CAATGGGAATGATGGAACTTG	0.413000												
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
KLHL24	54800	broad.mit.edu	37	3	183368863	183368863	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:183368863C>T	uc003flv.2	+	3	1014	c.719C>T	c.(718-720)GCC>GTC	p.A240V	KLHL24_uc003flw.2_Missense_Mutation_p.A240V|KLHL24_uc003flx.2_Missense_Mutation_p.A240V	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	240	BACK.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GTCTATCGTGCCGTTGATCTG	0.423000												
PSMD2	5708	broad.mit.edu	37	3	184025728	184025728	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:184025728C>T	uc003fnn.1	+	19	2382	c.2349C>T	c.(2347-2349)AGC>AGT	p.S783S	PSMD2_uc011brj.1_Silent_p.S624S|PSMD2_uc011brk.1_Silent_p.S653S	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	783					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CCTACCACAGCGACCGGCAGC	0.522000												
CHRD	8646	broad.mit.edu	37	3	184101309	184101309	+	Splice_Site	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:184101309A>G	uc003fov.2	+	12	1567	c.1321_splice	c.e12-2	p.V441_splice	CHRD_uc003fow.2_Splice_Site_p.V71_splice|CHRD_uc003fox.2_Splice_Site_p.V441_splice|CHRD_uc003foy.2_Splice_Site_p.V71_splice|CHRD_uc010hyc.2_Intron|CHRD_uc011brr.1_Splice_Site_p.V71_splice	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor						BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTGCCCATCAGGTGCAAGTG	0.637000												
PDE6B	5158	broad.mit.edu	37	4	656381	656381	+	Silent	SNP	C	C	T	rs140849790		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:656381C>T	uc003gap.2	+	14	1859	c.1806C>T	c.(1804-1806)CGC>CGT	p.R602R	PDE6B_uc003gao.3_Silent_p.R602R|PDE6B_uc011buy.1_Silent_p.R323R|PDE6B_uc011buz.1_Silent_p.R34R	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	602					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						TCGACCACCGCGGCACCAACA	0.577000												
GAK	2580	broad.mit.edu	37	4	860221	860221	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:860221C>T	uc003gbm.3	-	22	3173	c.2974G>A	c.(2974-2976)GTC>ATC	p.V992I	GAK_uc003gbn.3_Missense_Mutation_p.V913I|GAK_uc010ibi.2_Missense_Mutation_p.V173I|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.V845I	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	992					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		GATGGTGGGACGGTCACAGAG	0.617000												
SPON2	10417	broad.mit.edu	37	4	1165659	1165659	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:1165659C>T	uc003gcn.3	-	1	228	c.201G>A	c.(199-201)GCG>GCA	p.A67A	SPON2_uc003gco.3_Silent_p.A67A|SPON2_uc010ibr.2_Silent_p.A67A|SPON2_uc003gcm.1_5'Flank	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	67	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		AAGACCACTGCGCAGGGGGGC	0.687000												
FGFR3	2261	broad.mit.edu	37	4	1803616	1803616	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:1803616C>T	uc003gdr.3	+	7	1050	c.794C>T	c.(793-795)GCG>GTG	p.A265V	FGFR3_uc003gdu.2_Missense_Mutation_p.A265V|FGFR3_uc003gds.3_Missense_Mutation_p.A265V|FGFR3_uc003gdq.3_Missense_Mutation_p.A265V|FGFR3_uc010icb.1_Missense_Mutation_p.A107V|FGFR3_uc003gdt.1_Missense_Mutation_p.A107V	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	265	Ig-like C2-type 3.|Extracellular (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.A265T(2)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	AACCAGACGGCGGTGCTGGGC	0.607000		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome			
WHSC1	7468	broad.mit.edu	37	4	1961359	1961359	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:1961359C>T	uc003gdz.3	+	17	3323	c.3147C>T	c.(3145-3147)GGC>GGT	p.G1049G	WHSC1_uc003geb.3_Silent_p.G1049G|WHSC1_uc003gec.3_Silent_p.G1049G|WHSC1_uc003ged.3_Silent_p.G1049G|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.G268G|WHSC1_uc011bvh.1_Silent_p.G110G|WHSC1_uc010icf.2_Silent_p.G397G	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1049	AWS.				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)		GTCCCGCGGGCGAGTTCTGCC	0.567000			T	IGH@	MM							
C4orf50	389197	broad.mit.edu	37	4	5981913	5981913	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:5981913C>T	uc003git.1	-	2	246	c.156G>A	c.(154-156)GAG>GAA	p.E52E		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	52	Potential.									pancreas(2)|breast(1)	3						TGGCCTGGAGCTCCTCCTGGA	0.642000												
JAKMIP1	152789	broad.mit.edu	37	4	6107634	6107634	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:6107634G>A	uc003giu.3	-	3	466	c.190C>T	c.(190-192)CGG>TGG	p.R64W	JAKMIP1_uc010idb.1_Missense_Mutation_p.R64W|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R64W|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R64W|JAKMIP1_uc010ide.2_Missense_Mutation_p.R64W	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	64	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GCCGTGTGCCGTCGCTGCTCC	0.622000												
WFS1	7466	broad.mit.edu	37	4	6296826	6296826	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:6296826C>T	uc003giy.2	+	7	937	c.771C>T	c.(769-771)GGC>GGT	p.G257G	WFS1_uc003gix.2_Silent_p.G257G|WFS1_uc003giz.2_Silent_p.G75G	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	257					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		ACGCCAAGGGCGTCATCCCCA	0.577000												
WFS1	7466	broad.mit.edu	37	4	6302499	6302499	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:6302499C>T	uc003giy.2	+	8	1143	c.977C>T	c.(976-978)GCG>GTG	p.A326V	WFS1_uc003gix.2_Missense_Mutation_p.A326V|WFS1_uc003giz.2_Missense_Mutation_p.A144V	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	326	Helical; (Potential).		A -> V.		endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		CACATCAACGCGCTCATCTTC	0.542000												
CCKAR	886	broad.mit.edu	37	4	26483548	26483548	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:26483548G>A	uc003gse.1	-	5	1152	c.999C>T	c.(997-999)AAC>AAT	p.N333N		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	333	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	CCCGCCAGGCGTTGGCGCTGA	0.617000												
PCDH7	5099	broad.mit.edu	37	4	30724440	30724440	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:30724440G>A	uc003gsk.1	+	1	2404	c.1396G>A	c.(1396-1398)GTG>ATG	p.V466M	PCDH7_uc011bxw.1_Missense_Mutation_p.V419M|PCDH7_uc011bxx.1_Missense_Mutation_p.V466M	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	466	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						GGTGGGCGACGTGCCCTTCCA	0.637000												
TLR10	81793	broad.mit.edu	37	4	38776168	38776168	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:38776168C>T	uc003gti.2	-	2	1423	c.1044G>A	c.(1042-1044)ACG>ACA	p.T348T	TLR10_uc003gtj.2_Silent_p.T348T|TLR10_uc003gtk.2_Silent_p.T348T	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	348	LRR 8.|Extracellular (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						ATTGGAATTTCGTAGGATAAT	0.328000												
SHISA3	152573	broad.mit.edu	37	4	42400102	42400102	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:42400102T>C	uc003gwp.2	+	1	247	c.29T>C	c.(28-30)CTC>CCC	p.L10P		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	shisa homolog 3 precursor	10					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|skin(1)	2						CTTTGCCTTCTCCTTGGCTGG	0.711000												
ATP8A1	10396	broad.mit.edu	37	4	42581864	42581864	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:42581864C>T	uc003gwr.2	-	11	1198	c.966G>A	c.(964-966)AGG>AGA	p.R322R	ATP8A1_uc003gws.2_Silent_p.R322R|ATP8A1_uc011byz.1_Silent_p.R322R	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	322	Extracellular (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	TTCCAGAATGCCTTCGATTCC	0.338000												
KDR	3791	broad.mit.edu	37	4	55968171	55968171	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:55968171C>T	uc003has.2	-	15	2461	c.2159G>A	c.(2158-2160)CGG>CAG	p.R720Q	KDR_uc003hat.1_Missense_Mutation_p.R720Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	720	Ig-like C2-type 7.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGAGGTTCCGGTTCCCATC	0.438000			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)		
UGT2B28	54490	broad.mit.edu	37	4	70148363	70148363	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:70148363G>A	uc003hej.2	+	2	855	c.853G>A	c.(853-855)GCC>ACC	p.A285T	UGT2B28_uc010ihr.2_Missense_Mutation_p.A285T	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	285					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	CTGCAAACCTGCCAAACCCCT	0.388000												
RASSF6	166824	broad.mit.edu	37	4	74442417	74442417	+	Silent	SNP	C	C	T	rs147932445	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:74442417C>T	uc003hhd.1	-	9	972	c.849G>A	c.(847-849)CCG>CCA	p.P283P	RASSF6_uc003hhc.1_Silent_p.P251P|RASSF6_uc010iik.1_Silent_p.P217P|RASSF6_uc010iil.1_Silent_p.P239P	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family 6	283	Ras-associating.				apoptosis|signal transduction		protein binding			pancreas(2)	2	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCTGCAGTAGCGGAATGTCTG	0.403000												
PDLIM5	10611	broad.mit.edu	37	4	95496845	95496845	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:95496845G>A	uc003hti.2	+	5	521	c.370G>A	c.(370-372)GCC>ACC	p.A124T	PDLIM5_uc003htf.2_Intron|PDLIM5_uc003htg.2_Intron|PDLIM5_uc011cdx.1_Intron|PDLIM5_uc003hth.2_Intron|PDLIM5_uc003htj.2_Intron|PDLIM5_uc003htk.2_Intron|PDLIM5_uc011cdy.1_Missense_Mutation_p.A2T	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5 isoform a	124					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			ovary(1)|skin(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAACAACATGGCCTACAATAA	0.463000												
MANBA	4126	broad.mit.edu	37	4	103553381	103553381	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:103553381C>T	uc003hwg.2	-	17	2573	c.2473G>A	c.(2473-2475)GCT>ACT	p.A825T	MANBA_uc011ces.1_Missense_Mutation_p.A768T	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	825					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		ACAAAGGGAGCGACAGCTGAG	0.413000												
TET2	54790	broad.mit.edu	37	4	106157193	106157193	+	Silent	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:106157193G>T	uc003hxk.2	+	3	2480	c.2094G>T	c.(2092-2094)GTG>GTT	p.V698V	TET2_uc011cez.1_Silent_p.V719V|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.V698V|TET2_uc003hxi.1_Silent_p.V698V	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	698	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)		TGTCCCCAGTGTTGAAACAGC	0.418000			Mis N|F		MDS							
TRAM1L1	133022	broad.mit.edu	37	4	118005713	118005713	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:118005713C>T	uc003ibv.3	-	1	1024	c.837G>A	c.(835-837)TCG>TCA	p.S279S		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	279	Lumenal (Potential).|TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.S279S(1)		central_nervous_system(1)	1						TCCGATTCTGCGATCCAGCCA	0.453000												
FAT4	79633	broad.mit.edu	37	4	126336826	126336826	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:126336826C>T	uc003ifj.3	+	5	6708	c.6708C>T	c.(6706-6708)AGC>AGT	p.S2236S	FAT4_uc011cgp.1_Silent_p.S534S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2236	Cadherin 21.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATCGAGGCAGCACACCCAGAA	0.448000												
INTU	27152	broad.mit.edu	37	4	128632225	128632225	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:128632225C>T	uc003ifk.1	+	14	2597	c.2527C>T	c.(2527-2529)CGT>TGT	p.R843C	INTU_uc011cgq.1_RNA	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	843										ovary(1)	1						TCTTTCCATTCGTGCAGTTTT	0.413000												
SMARCA5	8467	broad.mit.edu	37	4	144471250	144471250	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:144471250A>T	uc003ijg.2	+	23	3548	c.3086A>T	c.(3085-3087)AAG>ATG	p.K1029M		NM_003601	NP_003592	O60264	SMCA5_HUMAN	SWI/SNF-related matrix-associated	1029					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding			skin(1)	1	all_hematologic(180;0.158)					CGAGGACCAAAGCCTTCAGTA	0.358000												
ZNF827	152485	broad.mit.edu	37	4	146824292	146824292	+	Missense_Mutation	SNP	G	G	A	rs149206051		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:146824292G>A	uc003ikn.2	-	2	167	c.119C>T	c.(118-120)CCG>CTG	p.P40L	ZNF827_uc003ikm.2_Missense_Mutation_p.P40L|ZNF827_uc010iox.2_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					TGCTTCTGACGGAGTCTCTGA	0.532000												
ARHGAP10	79658	broad.mit.edu	37	4	148744110	148744110	+	Splice_Site	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:148744110T>C	uc003ilf.2	+	3	312	c.312_splice	c.e3+2	p.M104_splice	ARHGAP10_uc003ile.1_Splice_Site_p.M104_splice	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10						apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAATTATGGTGAGTTGAGAG	0.383000												
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	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	0.413000			Mis|N|D|F		colorectal|endometrial|T-ALL							
FHDC1	85462	broad.mit.edu	37	4	153881743	153881743	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:153881743C>T	uc003inf.2	+	4	765	c.690C>T	c.(688-690)GGC>GGT	p.G230G		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	230	FH2.				actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					CGTTTAGTGGCGACGTGTCGA	0.373000												
DCHS2	54798	broad.mit.edu	37	4	155312366	155312366	+	Silent	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:155312366G>T	uc003inw.2	-	1	84	c.84C>A	c.(82-84)GCC>GCA	p.A28A	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	28					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATATACACAGGCATCAGTAC	0.199000												
HAND2	9464	broad.mit.edu	37	4	174450000	174450000	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:174450000G>A	uc003ith.1	-	1	1379	c.441C>T	c.(439-441)TAC>TAT	p.Y147Y	NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Missense_Mutation_p.H113Y|HAND2_uc010ire.1_Silent_p.Y147Y	NM_021973	NP_068808	P61296	HAND2_HUMAN	basic helix-loop-helix transcription factor	147	Helix-loop-helix motif.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			skin(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GGTAGGCGATGTAGCTGGTGG	0.592000												
C4orf41	60684	broad.mit.edu	37	4	184589196	184589196	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:184589196C>T	uc003ivx.2	+	5	662	c.486C>T	c.(484-486)TGC>TGT	p.C162C	C4orf41_uc003ivw.2_Silent_p.C162C|C4orf41_uc010isc.2_Intron	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	162											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)		CAGCTTTATGCAATGCATGTG	0.383000												
SLC12A7	10723	broad.mit.edu	37	5	1075484	1075484	+	Splice_Site	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:1075484A>G	uc003jbu.2	-	15	2033	c.1967_splice	c.e15+1	p.G656_splice		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride						potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GACAGCGCTTACCCGCGGTAC	0.657000												
IRX2	153572	broad.mit.edu	37	5	2749021	2749021	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:2749021C>T	uc003jda.2	-	3	1043	c.801G>A	c.(799-801)GAG>GAA	p.E267E	IRX2_uc003jdb.2_Silent_p.E267E	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	267						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CGTCGTCGTCCTCGTCGTCCT	0.667000												
ADAMTS16	170690	broad.mit.edu	37	5	5232558	5232558	+	Silent	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:5232558T>G	uc003jdl.2	+	12	1917	c.1779T>G	c.(1777-1779)TCT>TCG	p.S593S	ADAMTS16_uc003jdk.1_Silent_p.S593S|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	593	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CGGACTGGTCTTCTTGGTCCC	0.537000												
ADCY2	108	broad.mit.edu	37	5	7520977	7520977	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:7520977G>A	uc003jdz.1	+	3	602	c.535G>A	c.(535-537)GCA>ACA	p.A179T		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	179	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						CTGCCTGTCTGCAACACCGGG	0.607000												
MTRR	4552	broad.mit.edu	37	5	7873500	7873500	+	Silent	SNP	C	C	T	rs138612190	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:7873500C>T	uc003jed.2	+	3	255	c.225C>T	c.(223-225)ACC>ACT	p.T75T	MTRR_uc010itn.1_Intron|MTRR_uc003jee.3_Silent_p.T48T|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_Intron|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	75	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ACCTAAAAACCGAAACAGCTC	0.448000												
DNAH5	1767	broad.mit.edu	37	5	13781052	13781052	+	Missense_Mutation	SNP	C	C	T	rs140975593		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:13781052C>T	uc003jfd.2	-	53	8879	c.8837G>A	c.(8836-8838)CGT>CAT	p.R2946H		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2946	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CTGAGGAGTACGAATGACACG	0.433000									Kartagener_syndrome			
TRIO	7204	broad.mit.edu	37	5	14297342	14297342	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:14297342G>A	uc003jff.2	+	7	1344	c.1338G>A	c.(1336-1338)ATG>ATA	p.M446I	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.M397I|TRIO_uc003jfh.1_Missense_Mutation_p.M95I	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	446					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TGCTGGACATGTCCTCCATTT	0.562000												
FBXL7	23194	broad.mit.edu	37	5	15936821	15936821	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:15936821C>T	uc003jfn.1	+	4	1483	c.1002C>T	c.(1000-1002)TGC>TGT	p.C334C		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	334	LRR 7.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						TCAGCGACTGCCGCTTCGTCA	0.682000												
MARCH11	441061	broad.mit.edu	37	5	16067654	16067654	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:16067654G>A	uc003jfo.2	-	4	1348	c.1135C>T	c.(1135-1137)CGG>TGG	p.R379W	MARCH11_uc010itw.1_Missense_Mutation_p.R135W	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	379						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0						GGCCTCATCCGATTGAACAGG	0.478000												
CDH10	1008	broad.mit.edu	37	5	24491847	24491847	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:24491847C>A	uc003jgr.1	-	11	2046	c.1714G>T	c.(1714-1716)GAT>TAT	p.D572Y	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	572	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)		ATTGGGTAATCATTGTCTGAT	0.433000										HNSCC(23;0.051)		
PDZD2	23037	broad.mit.edu	37	5	32089364	32089364	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:32089364T>C	uc003jhl.2	+	20	6198	c.5810T>C	c.(5809-5811)GTA>GCA	p.V1937A	PDZD2_uc003jhm.2_Missense_Mutation_p.V1937A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1937					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CGGCTCCATGTAGCCGACCAC	0.597000												
RICTOR	253260	broad.mit.edu	37	5	38958851	38958851	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:38958851A>G	uc003jlp.2	-	23	2285	c.2261T>C	c.(2260-2262)TTG>TCG	p.L754S	RICTOR_uc003jlo.2_Missense_Mutation_p.L754S|RICTOR_uc010ivf.2_Missense_Mutation_p.L469S	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	754					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					GGTCACTAACAACTCAATTCC	0.343000												
HSPB3	8988	broad.mit.edu	37	5	53751772	53751772	+	Silent	SNP	G	G	A	rs139714539		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:53751772G>A	uc003jph.1	+	1	328	c.153G>A	c.(151-153)GCG>GCA	p.A51A		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	51					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus					0		Lung NSC(810;0.00104)				CCAGGGCAGCGCAGTCTCCTC	0.562000												
MAP3K1	4214	broad.mit.edu	37	5	56177584	56177584	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:56177584C>T	uc003jqw.3	+	14	3058	c.2557C>T	c.(2557-2559)CGT>TGT	p.R853C		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	853					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CACCAGGATGCGTCGCCGTTT	0.468000												
MAP1B	4131	broad.mit.edu	37	5	71495988	71495988	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:71495988C>A	uc003kbw.3	+	5	7047	c.6806C>A	c.(6805-6807)GCA>GAA	p.A2269E	MAP1B_uc010iyw.1_Missense_Mutation_p.A2286E|MAP1B_uc010iyx.1_Missense_Mutation_p.A2143E|MAP1B_uc010iyy.1_Missense_Mutation_p.A2143E	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2269						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGCCCTTGGCAGCTTCACCA	0.453000												
F2RL2	2151	broad.mit.edu	37	5	75913544	75913544	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:75913544A>T	uc003kem.2	-	2	1173	c.988T>A	c.(988-990)TAC>AAC	p.Y330N	IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.Y308N	NM_004101	NP_004092	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	330	Extracellular (Potential).				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			skin(2)|ovary(1)	3		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		GTGTTGTTGTAGTAGTAGTTA	0.348000												
CMYA5	202333	broad.mit.edu	37	5	79027051	79027051	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:79027051A>G	uc003kgc.2	+	2	2535	c.2463A>G	c.(2461-2463)CAA>CAG	p.Q821Q		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	821						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)		AGGCATCCCAATTCAAACCAA	0.433000												
THBS4	7060	broad.mit.edu	37	5	79355673	79355673	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:79355673G>T	uc003kgh.2	+	8	1255	c.932G>T	c.(931-933)GGG>GTG	p.G311V		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	311	EGF-like 1.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TTCCAGTGTGGGCCCTGCCCC	0.562000												
RASGRF2	5924	broad.mit.edu	37	5	80363869	80363869	+	Silent	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:80363869T>C	uc003kha.1	+	3	414	c.414T>C	c.(412-414)ATT>ATC	p.I138I	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_5'Flank	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	138					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACATTTTGATTGAGAGGGAAG	0.328000												
RASGRF2	5924	broad.mit.edu	37	5	80382675	80382675	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:80382675C>T	uc003kha.1	+	9	1293	c.1293C>T	c.(1291-1293)AGC>AGT	p.S431S	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.S259S	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	431					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATGAAGTCAGCGACACTGAAA	0.468000												
GPR98	84059	broad.mit.edu	37	5	90004680	90004680	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:90004680C>T	uc003kju.2	+	39	8874	c.8778C>T	c.(8776-8778)TAC>TAT	p.Y2926Y	GPR98_uc003kjt.2_Silent_p.Y632Y|GPR98_uc003kjv.2_Silent_p.Y526Y	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2926	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)		ATTTAACTTACGTTGGACTTA	0.343000												
KCNN2	3781	broad.mit.edu	37	5	113798824	113798824	+	Silent	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:113798824T>G	uc003kqo.2	+	4	1537	c.1080T>G	c.(1078-1080)GGT>GGG	p.G360G	KCNN2_uc003kqp.2_Silent_p.G12G|KCNN2_uc010jcg.2_RNA|uc003kqq.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	360						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TCTCCATTGGTTATGGTGACA	0.378000												
MEGF10	84466	broad.mit.edu	37	5	126746114	126746114	+	Silent	SNP	C	C	T	rs145870973	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:126746114C>T	uc003kuh.3	+	10	1313	c.951C>T	c.(949-951)GGC>GGT	p.G317G	MEGF10_uc010jdc.1_Silent_p.G317G|MEGF10_uc010jdd.1_Silent_p.G317G|MEGF10_uc003kui.3_Silent_p.G317G	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	317	Extracellular (Potential).|EGF-like 6.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				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)		GGACCTATGGCGTTCTCTGTG	0.527000												
CHSY3	337876	broad.mit.edu	37	5	129244011	129244011	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:129244011C>T	uc003kvd.2	+	2	1044	c.1044C>T	c.(1042-1044)TGC>TGT	p.C348C		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	348	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)		TAGGAAGATGCGTTCGCCGTT	0.438000												
CTNNA1	1495	broad.mit.edu	37	5	138160446	138160446	+	Silent	SNP	T	T	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:138160446T>A	uc003ldh.2	+	6	911	c.816T>A	c.(814-816)GGT>GGA	p.G272G	CTNNA1_uc011cyx.1_Silent_p.G169G|CTNNA1_uc011cyy.1_Silent_p.G149G|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Silent_p.G272G	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	272					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			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCACCAGGGTGGAGGAGGAG	0.522000												
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139876355	139876355	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:139876355G>A	uc003lfs.1	+	15	2620	c.2496G>A	c.(2494-2496)AAG>AAA	p.K832K	ANKHD1_uc003lfq.1_Silent_p.K851K|ANKHD1_uc003lfr.2_Silent_p.K832K|ANKHD1_uc003lft.1_Intron|ANKHD1_uc003lfu.1_Silent_p.K312K|ANKHD1_uc003lfv.1_Intron	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	832						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGAAGAAGAAAATATTGA	0.373000												
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139918632	139918632	+	Silent	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:139918632T>C	uc003lfs.1	+	33	7657	c.7533T>C	c.(7531-7533)GTT>GTC	p.V2511V	ANKHD1_uc003lfr.2_Silent_p.V2511V|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.V1267V|ANKHD1_uc003lfw.2_Silent_p.V1166V|ANKHD1_uc010jfl.2_Silent_p.V887V|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.V656V	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2511						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATAAAAGTTATCCAAAATT	0.403000												
SLC35A4	113829	broad.mit.edu	37	5	139947624	139947624	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:139947624C>T	uc003lgg.1	+	3	1598	c.870C>T	c.(868-870)AAC>AAT	p.N290N	SLC35A4_uc003lgh.1_Silent_p.N290N	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	290	Leu-rich.|Helical; (Potential).					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTCAACGCCGTGCTCT	0.592000												
PCDHA4	56144	broad.mit.edu	37	5	140188676	140188676	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:140188676G>A	uc003lhi.2	+	1	2005	c.1904G>A	c.(1903-1905)CGT>CAT	p.R635H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R635H|PCDHA4_uc011daa.1_Missense_Mutation_p.R635H	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	635	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)			AGCACAACGCGTGCCCTGGAC	0.682000												
PCDHA5	56143	broad.mit.edu	37	5	140202836	140202836	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:140202836G>A	uc003lhl.2	+	1	1476	c.1476G>A	c.(1474-1476)TCG>TCA	p.S492S	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_Silent_p.S492S|PCDHA5_uc003lhj.1_Silent_p.S492S	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	492	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCTACTCGCTGGTGGAGC	0.667000												
PCDHA9	9752	broad.mit.edu	37	5	140229691	140229691	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:140229691G>A	uc003lhu.2	+	1	2335	c.1611G>A	c.(1609-1611)GCG>GCA	p.A537A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.A537A	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	537	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.662000												
PCDHB6	56130	broad.mit.edu	37	5	140530024	140530024	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:140530024C>T	uc003lir.2	+	1	186	c.186C>T	c.(184-186)GGC>GGT	p.G62G	PCDHB6_uc011dah.1_Intron	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	62	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCGCGGGGCGCTCGGGTTG	0.517000												
PCDHGA4	56111	broad.mit.edu	37	5	140734826	140734826	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:140734826T>G	uc003ljq.1	+	1	59	c.59T>G	c.(58-60)CTG>CGG	p.L20R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.L20R	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	20					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)			TGCCTTCTCCTGGGGGTTCTG	0.622000												
PCDHGB6	56100	broad.mit.edu	37	5	140789059	140789059	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:140789059G>A	uc003lkj.1	+	1	1290	c.1290G>A	c.(1288-1290)CCG>CCA	p.P430P	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_uc003lki.1_Silent_p.P430P	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	430	Extracellular (Potential).|Cadherin 4.				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)			GGGGCAAGCCGCCTCTTTCTT	0.532000												
TCOF1	6949	broad.mit.edu	37	5	149756083	149756083	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:149756083C>T	uc003lry.2	+	14	2348	c.2240C>T	c.(2239-2241)ACG>ATG	p.T747M	TCOF1_uc003lrw.2_Missense_Mutation_p.T747M|TCOF1_uc011dch.1_Missense_Mutation_p.T747M|TCOF1_uc003lrz.2_Missense_Mutation_p.T747M|TCOF1_uc003lrx.2_Missense_Mutation_p.T670M|TCOF1_uc003lsa.2_Missense_Mutation_p.T670M|TCOF1_uc011dci.1_Missense_Mutation_p.T236M	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	747					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGGAAGACGGGGCCTACA	0.577000												
NDST1	3340	broad.mit.edu	37	5	149901098	149901098	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:149901098G>A	uc003lsk.3	+	2	784	c.282G>A	c.(280-282)TCG>TCA	p.S94S	NDST1_uc011dcj.1_Silent_p.S94S|NDST1_uc003lsl.2_Silent_p.S94S	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	94	Heparan sulfate N-deacetylase 1.|Lumenal (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)			GCCTCTACTCGCAACTGGGCC	0.637000												
NDST1	3340	broad.mit.edu	37	5	149927851	149927851	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:149927851C>T	uc003lsk.3	+	12	2719	c.2217C>T	c.(2215-2217)GAC>GAT	p.D739D	NDST1_uc011dcj.1_Intron	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	739	Heparan sulfate N-sulfotransferase 1.|Lumenal (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)			CCGGCTCTGACGCATCCTCGA	0.627000												
FAT2	2196	broad.mit.edu	37	5	150932777	150932777	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:150932777C>T	uc003lue.3	-	5	4130	c.4117G>A	c.(4117-4119)GTA>ATA	p.V1373I	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1373	Extracellular (Potential).|Cadherin 12.				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)			CTGCCCTCTACGCTGATGACC	0.587000												
WWC1	23286	broad.mit.edu	37	5	167812251	167812251	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:167812251C>T	uc003lzu.2	+	3	358	c.265C>T	c.(265-267)CGG>TGG	p.R89W	WWC1_uc003lzv.2_Missense_Mutation_p.R89W|WWC1_uc011den.1_Missense_Mutation_p.R89W	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	89					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)		AGTACAATGGCGGCGGGAGCA	0.542000												
SLIT3	6586	broad.mit.edu	37	5	168096822	168096822	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:168096822G>A	uc003mab.2	-	35	4722	c.4302C>T	c.(4300-4302)TGC>TGT	p.C1434C	SLIT3_uc010jjg.2_Silent_p.C1441C	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1434	EGF-like 9.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCCGGGCTGGCACAGGCAGT	0.517000												
KCNIP1	30820	broad.mit.edu	37	5	169931586	169931586	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:169931586G>A	uc003mas.2	+	1	539	c.10G>A	c.(10-12)GTC>ATC	p.V4I	KCNIP1_uc003map.2_Intron|KCNIP1_uc003mat.2_Missense_Mutation_p.V4I|KCNIP1_uc010jjp.2_5'UTR|KCNIP1_uc010jjq.2_Missense_Mutation_p.V4I	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1 isoform 1	4					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			skin(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATGGGGGCCGTCATGGGCAC	0.577000												
STC2	8614	broad.mit.edu	37	5	172744927	172744927	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:172744927C>T	uc003mco.1	-	4	2142	c.832G>A	c.(832-834)GGC>AGC	p.G278S	STC2_uc003mcn.1_Missense_Mutation_p.G193S	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	278					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCCCCAAGGCCCCCGACTCTG	0.607000												
HRH2	3274	broad.mit.edu	37	5	175110591	175110591	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:175110591G>A	uc003mdd.2	+	1	2128	c.355G>A	c.(355-357)GCT>ACT	p.A119T	HRH2_uc003mdc.3_Missense_Mutation_p.A119T	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	119	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCGGTACTGCGCTGTCATGGA	0.532000												
GPRIN1	114787	broad.mit.edu	37	5	176025084	176025084	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:176025084C>T	uc003meo.1	-	2	1927	c.1752G>A	c.(1750-1752)CCG>CCA	p.P584P		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	584						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGAGGGCACCGGGACTGTTT	0.562000												
DOK3	79930	broad.mit.edu	37	5	176931829	176931829	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:176931829T>C	uc003mhk.2	-	5	733	c.728A>G	c.(727-729)GAC>GGC	p.D243G	DOK3_uc003mhh.3_Missense_Mutation_p.D73G|DOK3_uc003mhi.3_Missense_Mutation_p.D187G|DOK3_uc003mhj.3_Missense_Mutation_p.D85G|DOK3_uc003mhl.2_Missense_Mutation_p.D187G	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	docking protein 3 isoform 1	243	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)			CTGGATGGCGTCTGGGCCCAG	0.687000												
ZFP2	80108	broad.mit.edu	37	5	178359583	178359583	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:178359583A>G	uc003mjn.1	+	5	1778	c.1269A>G	c.(1267-1269)TCA>TCG	p.S423S	ZFP2_uc010jky.2_Silent_p.S423S|ZFP2_uc010jkx.1_Silent_p.S423S	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	423	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TTAAGAATTCATCCCTTACAG	0.418000												
GRM6	2916	broad.mit.edu	37	5	178413361	178413361	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:178413361A>C	uc003mjr.2	-	8	2073	c.1894T>G	c.(1894-1896)TTC>GTC	p.F632V	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.F215V|GRM6_uc003mjs.1_Missense_Mutation_p.F252V	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	632	Helical; Name=2; (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TAGATGAGGAAGATGCCGGTG	0.667000												
ADAMTS2	9509	broad.mit.edu	37	5	178557042	178557042	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:178557042G>T	uc003mjw.2	-	16	2348	c.2348C>A	c.(2347-2349)GCC>GAC	p.A783D		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	783	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTTGGAACTGGCATCCACGTC	0.567000												
ADAMTS2	9509	broad.mit.edu	37	5	178634558	178634558	+	Missense_Mutation	SNP	C	C	T	rs35499429		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:178634558C>T	uc003mjw.2	-	4	847	c.847G>A	c.(847-849)GGG>AGG	p.G283R	ADAMTS2_uc011dgm.1_Missense_Mutation_p.G283R	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	283	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGCTCCTTCCCGTGGAACTGC	0.632000												
GNB2L1	10399	broad.mit.edu	37	5	180664659	180664659	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:180664659T>C	uc003mni.1	-	7	944	c.838A>G	c.(838-840)AAG>GAG	p.K280E	GNB2L1_uc003mnh.1_Missense_Mutation_p.K239E|GNB2L1_uc003mnk.1_Missense_Mutation_p.K202E|GNB2L1_uc003mnj.1_Missense_Mutation_p.K234E|GNB2L1_uc003mnl.1_Missense_Mutation_p.K64E	NM_006098	NP_006089	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein),	280					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		GGTTCTGCCTTGCTGCTGGTA	0.493000												
ALDH5A1	7915	broad.mit.edu	37	6	24520684	24520684	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:24520684G>A	uc003neg.2	+	6	954	c.926G>A	c.(925-927)GGC>GAC	p.G309D	ALDH5A1_uc003nef.2_Missense_Mutation_p.G322D	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	309					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GAGCTGGGCGGCCTTGCTCCA	0.512000												
HIST1H1A	3024	broad.mit.edu	37	6	26017792	26017792	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:26017792G>A	uc003nfo.2	-	1	249	c.169C>T	c.(169-171)CGT>TGT	p.R57C	HIST1H3A_uc003nfp.1_5'Flank	NM_005325	NP_005316	Q02539	H11_HUMAN	histone cluster 1, H1a	57	H15.				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			ovary(2)	2						ACACCACCACGCTCCTTAGAG	0.572000												
NKAPL	222698	broad.mit.edu	37	6	28228207	28228207	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:28228207G>A	uc003nkt.2	+	1	1110	c.1058G>A	c.(1057-1059)CGA>CAA	p.R353Q	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	353										upper_aerodigestive_tract(1)|ovary(1)	2						GAGGCTGTACGACTGCGTAAG	0.453000												
PGBD1	84547	broad.mit.edu	37	6	28269950	28269950	+	Silent	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:28269950T>C	uc003nky.2	+	7	2689	c.2319T>C	c.(2317-2319)AAT>AAC	p.N773N	PGBD1_uc003nkz.2_Silent_p.N773N	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	773					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						CCATGAACAATGCATGGCAAC	0.408000												
OR2W1	26692	broad.mit.edu	37	6	29012665	29012665	+	Silent	SNP	A	A	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:29012665A>C	uc003nlw.2	-	1	288	c.288T>G	c.(286-288)GGT>GGG	p.G96G		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GGATGATACAACCCACATAGC	0.433000												
OR2H2	7932	broad.mit.edu	37	6	29556131	29556131	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:29556131G>A	uc003nmr.1	+	1	449	c.410G>A	c.(409-411)CGC>CAC	p.R137H	GABBR1_uc003nmp.3_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H,	137	Cytoplasmic (Potential).				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATCCACCCCCGCCTGTGCTGG	0.612000												
HLA-F	3134	broad.mit.edu	37	6	29692855	29692855	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:29692855G>A	uc010jrl.2	+	4	782	c.658G>A	c.(658-660)GCC>ACC	p.A220T	HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Missense_Mutation_p.A220T|HLA-F_uc011dlx.1_Missense_Mutation_p.A220T|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	220	Alpha-3.|Extracellular (Potential).|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						TGACCATGAGGCCACCCTGAG	0.592000												
TRIM10	10107	broad.mit.edu	37	6	30121852	30121852	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:30121852G>A	uc003npo.3	-	7	1416	c.1340C>T	c.(1339-1341)GCT>GTT	p.A447V	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	447	B30.2/SPRY.					cytoplasm	zinc ion binding				0						TCGGGTGACAGCGTTGGTGAA	0.612000												
ABCF1	23	broad.mit.edu	37	6	30550906	30550906	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:30550906G>A	uc003nql.2	+	10	951	c.856G>A	c.(856-858)GTG>ATG	p.V286M	ABCF1_uc003nqk.2_Missense_Mutation_p.V287M|ABCF1_uc003nqm.2_Missense_Mutation_p.V248M|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	286					inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						TGACTTCTCCGTGTCCCAGGC	0.498000												
ABCF1	23	broad.mit.edu	37	6	30552049	30552049	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:30552049C>T	uc003nql.2	+	13	1278	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	ABCF1_uc003nqk.2_Missense_Mutation_p.R396W|ABCF1_uc003nqm.2_Missense_Mutation_p.R357W|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	395	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						GGAAGAGGAGCGGCGGCTTCA	0.592000												
TCF19	6941	broad.mit.edu	37	6	31127272	31127272	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:31127272G>A	uc003nss.2	+	2	550	c.26G>A	c.(25-27)CGC>CAC	p.R9H	CCHCR1_uc011dne.1_5'Flank|CCHCR1_uc003nsq.3_5'Flank|CCHCR1_uc003nsp.3_5'Flank|CCHCR1_uc003nsr.3_5'Flank|CCHCR1_uc010jsk.1_5'Flank|TCF19_uc003nst.2_Missense_Mutation_p.R9H	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	9					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAACTGCTGCGCATAGGGGGC	0.667000												
BAT2	7916	broad.mit.edu	37	6	31599904	31599904	+	Missense_Mutation	SNP	C	C	T	rs142106114	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:31599904C>T	uc003nvb.3	+	16	3703	c.3454C>T	c.(3454-3456)CGC>TGC	p.R1152C	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R1152C	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1152	4 X 57 AA type A repeats.		R -> H (in a breast cancer sample; somatic mutation).			cytoplasm|nucleus	protein binding				0						AGCCCCAGCCCGCTTCACTGC	0.682000												
BAT2	7916	broad.mit.edu	37	6	31600251	31600251	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:31600251C>T	uc003nvb.3	+	16	4050	c.3801C>T	c.(3799-3801)GCC>GCT	p.A1267A	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.A1267A	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1267	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						GGGAGAATGCCGCAAGGGGGT	0.647000												
BAT2	7916	broad.mit.edu	37	6	31600727	31600727	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:31600727G>C	uc003nvb.3	+	16	4526	c.4277G>C	c.(4276-4278)GGA>GCA	p.G1426A	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.G1426A	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1426	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						ACCGGGCCAGGACGAGGCGAC	0.607000												
BAT2	7916	broad.mit.edu	37	6	31602658	31602658	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:31602658A>G	uc003nvb.3	+	21	5313	c.5064A>G	c.(5062-5064)GGA>GGG	p.G1688G	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Silent_p.G1688G	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1688	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						AGAGGCCTGGAGGCTCCTCAC	0.612000												
BAT5	7920	broad.mit.edu	37	6	31655422	31655422	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:31655422C>T	uc003nvy.1	-	18	1573	c.1543G>A	c.(1543-1545)GTG>ATG	p.V515M	BAT5_uc003nvx.1_Missense_Mutation_p.V296M|BAT5_uc011dny.1_Missense_Mutation_p.V482M|BAT5_uc003nvz.1_Missense_Mutation_p.V296M|BAT5_uc011dnz.1_Missense_Mutation_p.V296M	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	515						integral to membrane	hydrolase activity|protein binding				0						TCCTTACCCACGCTCCAGGGG	0.597000												
TNXB	7148	broad.mit.edu	37	6	32023769	32023769	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:32023769G>A	uc003nzl.2	-	24	8528	c.8326C>T	c.(8326-8328)CGG>TGG	p.R2776W		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2834	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						ACCTGGGGCCGCCCGTCCCTG	0.657000												
B3GALT4	8705	broad.mit.edu	37	6	33246260	33246260	+	Missense_Mutation	SNP	C	C	T	rs149120716		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:33246260C>T	uc003odr.2	+	1	1344	c.1064C>T	c.(1063-1065)GCG>GTG	p.A355V		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	355	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						GAAAGGACTGCGCCCTTTTGC	0.612000												
RGL2	5863	broad.mit.edu	37	6	33264042	33264042	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:33264042C>G	uc003odv.2	-	6	664	c.531G>C	c.(529-531)GAG>GAC	p.E177D	RGL2_uc003odu.2_5'UTR|RGL2_uc010jur.2_Intron|RGL2_uc003odw.2_Missense_Mutation_p.E95D|RGL2_uc011drb.1_Missense_Mutation_p.E95D	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	177	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6						GACCCTTGGCCTCAGAGCCAA	0.577000												
KIFC1	3833	broad.mit.edu	37	6	33371779	33371779	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:33371779G>A	uc003oef.3	+	6	1079	c.629G>A	c.(628-630)CGT>CAT	p.R210H	KIFC1_uc011drf.1_Missense_Mutation_p.R202H	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	210	Potential.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						AAGAACTTGCGTGCTTGTGTC	0.587000												
ITPR3	3710	broad.mit.edu	37	6	33653429	33653429	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:33653429C>T	uc011drk.1	+	41	5711	c.5492C>T	c.(5491-5493)GCC>GTC	p.A1831V	ITPR3_uc003oey.2_5'Flank	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1831	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						GGCCGCGTGGCCTCCTTCTCG	0.687000												
SLC26A8	116369	broad.mit.edu	37	6	35967813	35967813	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:35967813G>A	uc003olm.2	-	4	512	c.401C>T	c.(400-402)TCG>TTG	p.S134L	SLC26A8_uc003oln.2_Missense_Mutation_p.S134L|SLC26A8_uc003oll.2_Missense_Mutation_p.S134L	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	134	Helical; (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						ATAGATTACCGAAGAACAGAA	0.393000												
DNAH8	1769	broad.mit.edu	37	6	38759438	38759438	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:38759438G>A	uc003ooe.1	+	19	2838	c.2238G>A	c.(2236-2238)TTG>TTA	p.L746L		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AAGATATGTTGACCCTCAATG	0.348000												
DAAM2	23500	broad.mit.edu	37	6	39869799	39869799	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:39869799C>T	uc003oow.2	+	25	3349	c.3193C>T	c.(3193-3195)CGG>TGG	p.R1065W	DAAM2_uc003oox.2_Missense_Mutation_p.R1064W	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	1065					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCAATAAACCGGCTAAATTA	0.567000												
TFEB	7942	broad.mit.edu	37	6	41652368	41652368	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:41652368C>A	uc003oqs.1	-	10	1702	c.1400G>T	c.(1399-1401)AGC>ATC	p.S467I	TFEB_uc003oqt.1_Missense_Mutation_p.S467I|TFEB_uc003oqu.1_Missense_Mutation_p.S481I|TFEB_uc003oqr.1_Missense_Mutation_p.S382I	NM_007162	NP_009093	P19484	TFEB_HUMAN	transcription factor EB	467				EPLAPGHGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMS PEASKASSRRSSFSMEEGDVL -> DRN (in Ref. 1).	embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CATGCTGAAGCTGCTCCGGCG	0.687000			T	ALPHA	renal (childhood epithelioid)							
MED20	9477	broad.mit.edu	37	6	41877053	41877053	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:41877053A>G	uc003ork.2	-	3	498	c.377T>C	c.(376-378)GTG>GCG	p.V126A	MED20_uc003orj.2_Missense_Mutation_p.V61A|MED20_uc011duh.1_Intron|MED20_uc011dui.1_Intron|MED20_uc011duj.1_Missense_Mutation_p.V61A	NM_004275	NP_004266	Q9H944	MED20_HUMAN	Trf (TATA binding protein-related	126					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding				0	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GACCGTGCCCACCTTCACCAG	0.557000												
TAF8	129685	broad.mit.edu	37	6	42023690	42023690	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:42023690G>A	uc003ors.2	+	4	331	c.302G>A	c.(301-303)GGT>GAT	p.G101D	TAF8_uc003orr.2_Missense_Mutation_p.G101D|TAF8_uc003ort.2_Missense_Mutation_p.G101D|TAF8_uc003oru.1_Missense_Mutation_p.G101D|TAF8_uc003orv.1_Missense_Mutation_p.G101D|TAF8_uc011dun.1_Missense_Mutation_p.G38D	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	TBP-associated factor 8	101	Histone-fold.				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			ovary(1)	1	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			TGTCTCTTAGGTTTCAATGTG	0.403000												
ABCC10	89845	broad.mit.edu	37	6	43412000	43412000	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:43412000C>T	uc003ouy.1	+	12	2813	c.2598C>T	c.(2596-2598)GGC>GGT	p.G866G	ABCC10_uc003ouz.1_Silent_p.G838G|ABCC10_uc010jyo.1_5'UTR	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	866						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGAAGGAGGGCGCCGTGGCCT	0.587000												
GTPBP2	54676	broad.mit.edu	37	6	43589437	43589437	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:43589437G>A	uc003ovs.2	-	12	1760	c.1723C>T	c.(1723-1725)CGG>TGG	p.R575W	GTPBP2_uc010jyv.2_Missense_Mutation_p.R487W|GTPBP2_uc003ovt.1_Intron	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	575							GTP binding|GTPase activity			liver(1)|skin(1)	2	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			ACACCCTCCCGGAACAGCAGT	0.572000												
SUPT3H	8464	broad.mit.edu	37	6	44922295	44922295	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:44922295C>A	uc003oxo.2	-	10	981	c.663G>T	c.(661-663)GAG>GAT	p.E221D	SUPT3H_uc003oxn.1_Missense_Mutation_p.E210D|SUPT3H_uc011dvv.1_Missense_Mutation_p.E58D|SUPT3H_uc003oxp.2_Missense_Mutation_p.E210D|SUPT3H_uc011dvw.1_Missense_Mutation_p.E124D	NM_181356	NP_852001	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog isoform 2	292					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						TGGGTTTTATCTCCATACTGC	0.378000												
DST	667	broad.mit.edu	37	6	56374631	56374631	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:56374631C>T	uc003pdf.2	-	68	12492	c.12464G>A	c.(12463-12465)CGC>CAC	p.R4155H	DST_uc003pcz.3_Missense_Mutation_p.R3977H|DST_uc011dxj.1_Missense_Mutation_p.R4006H|DST_uc011dxk.1_Missense_Mutation_p.R4017H|DST_uc003pcy.3_Missense_Mutation_p.R3651H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6063	Spectrin 12.				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)			TTCCACGATGCGTTCCAGGCT	0.423000												
BAI3	577	broad.mit.edu	37	6	69772890	69772890	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:69772890G>A	uc003pev.3	+	16	2846	c.2398G>A	c.(2398-2400)GAT>AAT	p.D800N	BAI3_uc010kak.2_Missense_Mutation_p.D800N	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	800	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CAAAACAACCGATTCGTTTCT	0.363000												
IBTK	25998	broad.mit.edu	37	6	82909923	82909923	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:82909923C>T	uc003pjl.1	-	21	3487	c.2960G>A	c.(2959-2961)CGT>CAT	p.R987H	IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Missense_Mutation_p.R987H|IBTK_uc011dyw.1_Missense_Mutation_p.R786H|IBTK_uc010kbi.1_Missense_Mutation_p.R681H|IBTK_uc003pjm.2_Missense_Mutation_p.R987H	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	987					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGAACGTTTACGTGGCTTCTT	0.299000												
HTR1E	3354	broad.mit.edu	37	6	87725581	87725581	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:87725581C>T	uc003pli.2	+	2	1232	c.529C>T	c.(529-531)CAC>TAC	p.H177Y		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	177	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CACCATCCAGCACGACCATGT	0.522000												
ORC3L	23595	broad.mit.edu	37	6	88318943	88318943	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:88318943A>G	uc003pmh.2	+	7	753	c.709A>G	c.(709-711)AGC>GGC	p.S237G	ORC3L_uc011dzl.1_Missense_Mutation_p.S237G|ORC3L_uc011dzm.1_Missense_Mutation_p.S237G|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.S237G|ORC3L_uc003pmi.2_Missense_Mutation_p.S237G|ORC3L_uc011dzo.1_Missense_Mutation_p.S94G|ORC3L_uc011dzp.1_Missense_Mutation_p.S94G	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3 isoform 2	237					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.0469)		CATAATTATCAGCAGGTAGAT	0.343000												
BACH2	60468	broad.mit.edu	37	6	90661243	90661243	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:90661243G>A	uc011eab.1	-	7	1391	c.582C>T	c.(580-582)GCC>GCT	p.A194A	BACH2_uc003pnw.2_Silent_p.A194A|BACH2_uc010kch.2_Silent_p.A194A	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	194						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGATGGCGGCGGCCTCAAAGC	0.597000												
EPHA7	2045	broad.mit.edu	37	6	93956681	93956681	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:93956681C>T	uc003poe.2	-	15	2796	c.2555G>A	c.(2554-2556)GGT>GAT	p.G852D	EPHA7_uc003pof.2_Missense_Mutation_p.G847D|EPHA7_uc011eac.1_Missense_Mutation_p.G848D	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	852	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAAACGATAACCTTCTTCTAT	0.388000												
SIM1	6492	broad.mit.edu	37	6	100895166	100895166	+	Missense_Mutation	SNP	C	C	T	rs41285857	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:100895166C>T	uc003pqj.3	-	8	1183	c.976G>A	c.(976-978)GTC>ATC	p.V326I	SIM1_uc010kcu.2_Missense_Mutation_p.V326I	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	326	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTGACGCTGACGATACAGTGT	0.622000												
BEND3	57673	broad.mit.edu	37	6	107391957	107391957	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:107391957C>T	uc003prs.2	-	5	1088	c.438G>A	c.(436-438)TCG>TCA	p.S146S		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	146										ovary(3)	3						GCAGGTCCCCCGAGGGAGGAT	0.572000												
SLC16A10	117247	broad.mit.edu	37	6	111498611	111498611	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:111498611G>T	uc003pus.2	+	3	860	c.685G>T	c.(685-687)GGC>TGC	p.G229C	SLC16A10_uc003pur.3_Missense_Mutation_p.G229C|SLC16A10_uc003put.2_5'UTR	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	solute carrier family 16, member 10	229	Helical; (Potential).				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity				0		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TGACAGCGTGGGCCTCTTTTA	0.483000												
NKAIN2	154215	broad.mit.edu	37	6	124125394	124125394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:124125394C>T	uc003pzo.2	+	1	326	c.49C>T	c.(49-51)CAA>TAA	p.Q17*	NKAIN2_uc003pzn.1_Nonsense_Mutation_p.Q17*|NKAIN2_uc003pzp.2_5'UTR|NKAIN2_uc010keq.2_Nonsense_Mutation_p.Q17*|NKAIN2_uc010kep.1_RNA	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	17	Helical; (Potential).					integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)		CTGTGGCATGCAACTGGTAAG	0.537000												
C6orf191	253582	broad.mit.edu	37	6	130164727	130164727	+	Silent	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:130164727C>A	uc003qbs.2	-	3	224	c.141G>T	c.(139-141)CTG>CTT	p.L47L		NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN	hypothetical protein LOC253582	47						integral to membrane				large_intestine(1)	1				GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131)		CAAATGGAGCCAGGACATTCA	0.333000												
PLAGL1	5325	broad.mit.edu	37	6	144269239	144269239	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:144269239G>A	uc003qjv.2	-	2	1301	c.35C>T	c.(34-36)ACG>ATG	p.T12M	PLAGL1_uc003qjx.2_Missense_Mutation_p.T12M|PLAGL1_uc003qjy.2_Missense_Mutation_p.T12M|PLAGL1_uc010khl.2_Missense_Mutation_p.T12M|PLAGL1_uc010khm.2_Missense_Mutation_p.T12M|PLAGL1_uc003qjz.2_Missense_Mutation_p.T12M|PLAGL1_uc003qka.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkb.2_Intron|PLAGL1_uc003qkc.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkd.2_Intron|PLAGL1_uc003qke.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkf.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkg.2_Intron|PLAGL1_uc003qkh.2_Missense_Mutation_p.T12M|PLAGL1_uc003qki.2_Intron|PLAGL1_uc003qkj.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkk.2_Intron|PLAGL1_uc003qkl.2_Intron|PLAGL1_uc003qkm.2_Missense_Mutation_p.T12M|PLAGL1_uc010khn.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkn.2_Intron|PLAGL1_uc003qko.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkp.2_Intron|PLAGL1_uc003qjw.2_Intron	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1 isoform 1	12	C2H2-type 1.				cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GGTGAGGAACGTCTTGCCACA	0.512000												
UTRN	7402	broad.mit.edu	37	6	145114977	145114977	+	Silent	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:145114977T>C	uc003qkt.2	+	62	9020	c.8928T>C	c.(8926-8928)TTT>TTC	p.F2976F		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2976	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGATCTCTTTAAGGAAGTTG	0.453000												
SHPRH	257218	broad.mit.edu	37	6	146256278	146256278	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:146256278C>T	uc003qlf.2	-	13	3154	c.2755G>A	c.(2755-2757)GAA>AAA	p.E919K	SHPRH_uc003qld.2_Missense_Mutation_p.E919K|SHPRH_uc003qle.2_Missense_Mutation_p.E919K|SHPRH_uc003qlg.1_Missense_Mutation_p.E475K|SHPRH_uc003qlj.1_Missense_Mutation_p.E808K|SHPRH_uc003qlh.2_5'Flank	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	919					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGTATTTCTTCGGTTTGTGGT	0.388000												
UST	10090	broad.mit.edu	37	6	149285691	149285691	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:149285691C>T	uc003qmg.2	+	5	969	c.673C>T	c.(673-675)CGC>TGC	p.R225C	uc003qmh.1_Intron	NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	225	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GCAGGAGGAGCGCTACCTGGT	0.567000												
AKAP12	9590	broad.mit.edu	37	6	151674332	151674332	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:151674332G>A	uc011eep.1	+	4	5046	c.4806G>A	c.(4804-4806)CAG>CAA	p.Q1602Q	AKAP12_uc003qoe.2_Silent_p.Q1602Q|AKAP12_uc003qof.2_Silent_p.Q1504Q|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.Q1497Q	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1602				Q -> L (in Ref. 2; BAA19927).	G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGAACCTCAGGCCTCTGCAC	0.488000												
C6orf97	80129	broad.mit.edu	37	6	151857472	151857472	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:151857472C>T	uc003qol.2	+	2	166	c.77C>T	c.(76-78)TCG>TTG	p.S26L		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	26											0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		GATCATCTTTCGGAAGTCCCG	0.428000												
IPCEF1	26034	broad.mit.edu	37	6	154542444	154542444	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:154542444A>G	uc003qpx.2	-	7	492	c.336T>C	c.(334-336)CAT>CAC	p.H112H	OPRM1_uc003qpt.1_Intron|IPCEF1_uc003qpw.2_Silent_p.H113H|IPCEF1_uc010kjh.2_Silent_p.H113H	NM_015553	NP_056368	Q8WWN9	ICEF1_HUMAN	phosphoinositide-binding protein PIP3-E isoform	112	PH.				response to oxidative stress	cytoplasm|plasma membrane	oxygen transporter activity|peroxidase activity				0						TGATCTGTGGATGGCTGATCT	0.358000												
EZR	7430	broad.mit.edu	37	6	159206516	159206516	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:159206516T>C	uc003qrt.3	-	4	507	c.292A>G	c.(292-294)ACC>GCC	p.T98A	EZR_uc011efs.1_Missense_Mutation_p.T66A|EZR_uc003qru.3_Missense_Mutation_p.T98A	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	98	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		AGTTTCTGGGTGATGTCCTGG	0.552000												
FNDC1	84624	broad.mit.edu	37	6	159655397	159655397	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:159655397G>A	uc010kjv.2	+	11	4053	c.3853G>A	c.(3853-3855)GCC>ACC	p.A1285T	FNDC1_uc010kjw.1_Missense_Mutation_p.A1170T	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1285						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CACCACGCGCGCCCCACCTGG	0.701000												
SLC22A2	6582	broad.mit.edu	37	6	160679635	160679635	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:160679635C>T	uc003qtf.2	-	1	325	c.155G>A	c.(154-156)CGG>CAG	p.R52Q	SLC22A2_uc003qte.1_Missense_Mutation_p.R52Q|SLC22A2_uc003qth.1_Missense_Mutation_p.R52Q	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	52	Extracellular (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TCCGGGGCTCCGGCAGCGGTG	0.647000												
MLLT4	4301	broad.mit.edu	37	6	168352841	168352841	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:168352841C>T	uc003qwd.2	+	29	4925	c.4783C>T	c.(4783-4785)CGC>TGC	p.R1595C	MLLT4_uc003qwb.1_Missense_Mutation_p.R1580C|MLLT4_uc003qwc.1_Missense_Mutation_p.R1596C|MLLT4_uc003qwg.1_Missense_Mutation_p.R905C	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1596	Potential.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GATCATGCAGCGCCTGGAGGC	0.408000			T	MLL	AL							
THBS2	7058	broad.mit.edu	37	6	169622298	169622298	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:169622298C>T	uc003qwt.2	-	20	3515	c.3267G>A	c.(3265-3267)CCG>CCA	p.P1089P		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	1089	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCACCTGCCCCGGCGTGTTCC	0.647000												
MAD1L1	8379	broad.mit.edu	37	7	2255800	2255800	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:2255800C>T	uc003slh.1	-	8	1067	c.801G>A	c.(799-801)GCG>GCA	p.A267A	MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.A267A|MAD1L1_uc003slg.1_Silent_p.A267A|MAD1L1_uc010ksh.1_Silent_p.A267A|MAD1L1_uc003sli.1_Silent_p.A175A|MAD1L1_uc010ksi.1_Silent_p.A220A|MAD1L1_uc010ksj.2_Silent_p.A267A	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	267	Potential.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ACCGCAGGTGCGCGCTCTCCT	0.632000												
TNRC18	84629	broad.mit.edu	37	7	5401291	5401291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:5401291C>T	uc003soi.3	-	14	4944	c.4595G>A	c.(4594-4596)CGG>CAG	p.R1532Q		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1532							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCGTGGGTCCGTTTCCGCGG	0.672000												
FBXL18	80028	broad.mit.edu	37	7	5540810	5540810	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:5540810G>A	uc003soo.2	-	3	1184	c.1090C>T	c.(1090-1092)CGC>TGC	p.R364C	FBXL18_uc003son.3_Missense_Mutation_p.R364C	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	364										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TCCGCCTTGCGGAGCAGCGAG	0.657000												
DAGLB	221955	broad.mit.edu	37	7	6464452	6464452	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:6464452C>T	uc003sqa.2	-	8	1241	c.1071G>A	c.(1069-1071)CCG>CCA	p.P357P	DAGLB_uc003spz.2_5'Flank|DAGLB_uc011jwt.1_Silent_p.P171P|DAGLB_uc011jwu.1_Silent_p.P228P|DAGLB_uc003sqb.2_Silent_p.P76P|DAGLB_uc003sqc.2_Silent_p.P76P|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.P316P|DAGLB_uc011jww.1_RNA	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	357	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CCACTAAAAACGGCAGCTCGT	0.547000												
GLCCI1	113263	broad.mit.edu	37	7	8043675	8043675	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:8043675G>T	uc003srk.2	+	2	1154	c.595G>T	c.(595-597)GAC>TAC	p.D199Y		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	199											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		ATGCATGAAAGACAAAGCTAC	0.388000												
ETV1	2115	broad.mit.edu	37	7	13949284	13949284	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:13949284T>G	uc011jxq.1	-	11	1652	c.913A>C	c.(913-915)ACC>CCC	p.T305P	ETV1_uc011jxn.1_Missense_Mutation_p.T265P|ETV1_uc011jxo.1_Missense_Mutation_p.T202P|ETV1_uc011jxp.1_Missense_Mutation_p.T247P|ETV1_uc003ssw.3_Missense_Mutation_p.T282P|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.T287P|ETV1_uc011jxs.1_Missense_Mutation_p.T287P|ETV1_uc010ktv.2_Silent_p.T173T	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	305					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						ACAACACAGGTGTCATCATAA	0.373000			T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate							
HOXA9	3205	broad.mit.edu	37	7	27203381	27203381	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:27203381T>A	uc003syt.2	-	2	733	c.660A>T	c.(658-660)GAA>GAT	p.E220D		NM_152739	NP_689952	P31269	HXA9_HUMAN	homeobox A9	220	Homeobox.						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E220K(1)		lung(1)|central_nervous_system(1)	2						CTTTCTCCAGTTCCAGGGTCT	0.552000			T	NUP98|MSI2	AML*							
CCDC129	223075	broad.mit.edu	37	7	31683217	31683217	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:31683217G>A	uc003tcj.1	+	11	3226	c.2233G>A	c.(2233-2235)GCA>ACA	p.A745T	CCDC129_uc011kad.1_Missense_Mutation_p.A755T|CCDC129_uc003tci.1_Missense_Mutation_p.A596T|CCDC129_uc011kae.1_Missense_Mutation_p.A771T|CCDC129_uc003tck.1_Missense_Mutation_p.A653T	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	745											0						TCCTGTTACCGCAACAGAAAC	0.522000												
C7orf10	79783	broad.mit.edu	37	7	40277271	40277271	+	Silent	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:40277271T>C	uc003thn.1	+	7	567	c.522T>C	c.(520-522)GGT>GGC	p.G174G	C7orf10_uc003thm.1_Silent_p.G144G|C7orf10_uc003tho.1_Silent_p.G174G	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN	dermal papilla derived protein 13	181							transferase activity			ovary(2)	2						AGCGAGCTGGTTATGATGCTG	0.423000												
ABCA13	154664	broad.mit.edu	37	7	48431646	48431646	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:48431646A>G	uc003toq.2	+	38	11808	c.11783A>G	c.(11782-11784)GAC>GGC	p.D3928G	ABCA13_uc010kys.1_Missense_Mutation_p.D1002G|ABCA13_uc003tos.1_Missense_Mutation_p.D754G|ABCA13_uc010kyt.1_RNA	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3928	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ATCCTGTTGGACAACCTCACC	0.507000												
ZNF107	51427	broad.mit.edu	37	7	64167492	64167492	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:64167492A>G	uc003ttd.2	+	7	1596	c.810A>G	c.(808-810)AAA>AAG	p.K270K	ZNF107_uc003tte.2_Silent_p.K270K	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTGGGGAGAAACCCTACAAAT	0.363000												
GTPBP10	85865	broad.mit.edu	37	7	89984426	89984426	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:89984426A>T	uc003ukm.1	+	4	412	c.346A>T	c.(346-348)ATT>TTT	p.I116F	GTPBP10_uc003uki.1_Missense_Mutation_p.I133F|GTPBP10_uc003ukj.1_Missense_Mutation_p.I107F|GTPBP10_uc003ukk.1_Intron|GTPBP10_uc003ukl.1_RNA|GTPBP10_uc003ukn.1_Intron|GTPBP10_uc003uko.1_Intron	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 isoform 2	116					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding				0						AAATGACAGAATTTTGGTAGC	0.318000												
MTERF	7978	broad.mit.edu	37	7	91503062	91503062	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:91503062G>T	uc003ulb.1	-	2	1090	c.1046C>A	c.(1045-1047)CCT>CAT	p.P349H	MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.P349H|MTERF_uc011khm.1_Missense_Mutation_p.P329H|MTERF_uc010leu.1_Missense_Mutation_p.P329H	NM_006980	NP_008911	Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	349					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding				0	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			CAGAACCCGAGGATTTTCGAT	0.343000												
BAIAP2L1	55971	broad.mit.edu	37	7	97946561	97946561	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:97946561G>A	uc003upj.2	-	6	719	c.456C>T	c.(454-456)AAC>AAT	p.N152N		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	152	Potential.|IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			ATTTGAGTGCGTTTCGGCTTC	0.348000												
GIGYF1	64599	broad.mit.edu	37	7	100279976	100279976	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:100279976C>T	uc003uwg.1	-	21	3739	c.2730G>A	c.(2728-2730)CTG>CTA	p.L910L		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	910										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCAGCGTGTGCAGCATCTGCT	0.677000												
LRRC17	10234	broad.mit.edu	37	7	102574941	102574941	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:102574941G>C	uc003vau.2	+	2	970	c.581G>C	c.(580-582)AGT>ACT	p.S194T	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Missense_Mutation_p.S194T	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	194	LRRCT 1.				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1						AAGTGTGAAAGTCCACAAGAA	0.413000												
SLC26A5	375611	broad.mit.edu	37	7	103018957	103018957	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:103018957G>A	uc003vbz.2	-	17	1957	c.1721C>T	c.(1720-1722)GCC>GTC	p.A574V	SLC26A5_uc003vbt.1_Missense_Mutation_p.A574V|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.A542V|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	574	Cytoplasmic (Potential).|STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						CTTCCGCATGGCCTTTCTCCT	0.478000												
SRPK2	6733	broad.mit.edu	37	7	104766779	104766779	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:104766779C>T	uc003vct.2	-	14	1985	c.1798G>A	c.(1798-1800)GCC>ACC	p.A600T	SRPK2_uc003vcu.2_Missense_Mutation_p.A600T|SRPK2_uc003vcv.2_Missense_Mutation_p.A611T|SRPK2_uc003vcs.1_RNA	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	600	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						ATGATGTGGGCTATGTGGTCT	0.413000												
RNF148	378925	broad.mit.edu	37	7	122342670	122342670	+	Silent	SNP	T	T	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:122342670T>A	uc003vkk.1	-	1	352	c.135A>T	c.(133-135)ACA>ACT	p.T45T	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Silent_p.T45T	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	45						integral to membrane	zinc ion binding				0						CAACCTGAAATGTTATATTCA	0.443000												
SND1	27044	broad.mit.edu	37	7	127729669	127729669	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:127729669C>T	uc003vmi.2	+	22	2773	c.2547C>T	c.(2545-2547)GGC>GGT	p.G849G	SND1_uc010lle.2_Silent_p.G502G	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	849					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						ATTCCAAGGGCGATGTGGGGC	0.587000												
FLNC	2318	broad.mit.edu	37	7	128495311	128495311	+	Silent	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:128495311G>T	uc003vnz.3	+	43	7403	c.7194G>T	c.(7192-7194)GTG>GTT	p.V2398V	FLNC_uc003voa.3_Silent_p.V2365V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2398	Filamin 21.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GCCCCTTTGTGGTGCCTGTGG	0.587000												
FLNC	2318	broad.mit.edu	37	7	128497221	128497221	+	Silent	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:128497221C>A	uc003vnz.3	+	46	7820	c.7611C>A	c.(7609-7611)GCC>GCA	p.A2537A	FLNC_uc003voa.3_Silent_p.A2504A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2537	Interaction with INPPL1.|Filamin 23.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GCTCGGGGGCCTTGTCTGTCA	0.607000												
PLXNA4	91584	broad.mit.edu	37	7	131865401	131865401	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:131865401A>T	uc003vra.3	-	19	3812	c.3583T>A	c.(3583-3585)TCA>ACA	p.S1195T		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1195	IPT/TIG 4.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TGGACATCTGACACGGTCACG	0.602000												
AKR1B10	57016	broad.mit.edu	37	7	134215432	134215432	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:134215432C>T	uc003vrr.2	+	2	424	c.104C>T	c.(103-105)GCC>GTC	p.A35V		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	35					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5						GTGAAGGTGGCCATTGATGCA	0.393000												
CNTNAP2	26047	broad.mit.edu	37	7	147675067	147675067	+	Missense_Mutation	SNP	G	G	A	rs73464271	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:147675067G>A	uc003weu.1	+	15	2885	c.2369G>A	c.(2368-2370)CGC>CAC	p.R790H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	790	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTCCTCTGCGCTGCCAAGGA	0.473000										HNSCC(39;0.1)		
ZNF862	643641	broad.mit.edu	37	7	149558011	149558011	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:149558011G>A	uc010lpn.2	+	7	1954	c.1762G>A	c.(1762-1764)GTG>ATG	p.V588M	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						CACGGGGACCGTGATATTAGG	0.532000												
ASB10	136371	broad.mit.edu	37	7	150873302	150873302	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:150873302C>T	uc003wjm.1	-	5	1562	c.1436G>A	c.(1435-1437)CGC>CAC	p.R479H	ASB10_uc003wjl.1_Missense_Mutation_p.R441H|ASB10_uc003wjn.1_Missense_Mutation_p.R419H	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	434	SOCS box.				intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGTGGGAGCGGAGCGCACA	0.662000												
MLL3	58508	broad.mit.edu	37	7	151917681	151917681	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:151917681G>A	uc003wla.2	-	23	3858	c.3639C>T	c.(3637-3639)AGC>AGT	p.S1213S	MLL3_uc003wkz.2_Silent_p.S274S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1213					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)		GGACGGCCACGCTATTCTGAT	0.398000			N		medulloblastoma							
HTR5A	3361	broad.mit.edu	37	7	154863212	154863212	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:154863212C>T	uc003wlu.1	+	1	667	c.603C>T	c.(601-603)GCC>GCT	p.A201A	uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	201	Helical; Name=5; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTCCTACGCCGTGTTCTCCA	0.612000												
CSMD1	64478	broad.mit.edu	37	8	3611465	3611465	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:3611465G>A	uc011kwk.1	-	6	1308	c.918C>T	c.(916-918)AAC>AAT	p.N306N		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	306	Extracellular (Potential).|CUB 2.					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)		GGAACTGAGCGTTAAATCCTT	0.418000												
MFHAS1	9258	broad.mit.edu	37	8	8749608	8749608	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:8749608G>A	uc003wsj.1	-	1	1524	c.961C>T	c.(961-963)CTT>TTT	p.L321F		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	321	LRR 12.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AAGGTGAGAAGCCGGCCCAGG	0.637000												
FAM167A	83648	broad.mit.edu	37	8	11282136	11282136	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:11282136G>A	uc010lry.1	-	3	1011	c.391C>T	c.(391-393)CGG>TGG	p.R131W	C8orf12_uc003wtu.2_Intron|C8orf12_uc003wtv.2_Intron|FAM167A_uc003wtw.2_Missense_Mutation_p.R131W	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	hypothetical protein LOC83648	131	Potential.										0						TCCTGCAGCCGCATCTCCGTC	0.607000												
DLC1	10395	broad.mit.edu	37	8	12956978	12956978	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:12956978G>A	uc003wwm.2	-	9	3312	c.2868C>T	c.(2866-2868)AAC>AAT	p.N956N	DLC1_uc003wwk.1_Silent_p.N519N|DLC1_uc003wwl.1_Silent_p.N553N|DLC1_uc011kxx.1_Silent_p.N445N	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	956					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TGGTTCGGTCGTTGTCCACAT	0.582000												
ADRA1A	148	broad.mit.edu	37	8	26627887	26627887	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:26627887C>T	uc003xfh.1	-	2	1616	c.1180G>A	c.(1180-1182)GTT>ATT	p.V394I	ADRA1A_uc003xfc.1_Missense_Mutation_p.V394I|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.V394I|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.V394I	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	394	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CATTCACAAACGCCATCCGTC	0.552000												
HMBOX1	79618	broad.mit.edu	37	8	28827712	28827712	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:28827712A>G	uc003xhd.3	+	3	518	c.176A>G	c.(175-177)GAC>GGC	p.D59G	HMBOX1_uc010lvd.2_Missense_Mutation_p.D59G|HMBOX1_uc003xhc.3_Missense_Mutation_p.D59G|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.D59G|HMBOX1_uc011lay.1_Missense_Mutation_p.D59G|HMBOX1_uc003xhf.2_Missense_Mutation_p.D47G|HMBOX1_uc003xhg.2_Missense_Mutation_p.D47G	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN	homeobox containing 1	59					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GAGCATAGTGACAAGTTTGGA	0.453000												
ERLIN2	11160	broad.mit.edu	37	8	37607921	37607921	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:37607921A>G	uc003xke.3	+	9	681	c.566A>G	c.(565-567)GAG>GGG	p.E189G	LOC728024_uc010lvx.1_5'Flank	NM_007175	NP_009106	O94905	ERLN2_HUMAN	ER lipid raft associated 2 isoform 1	189	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)			AGGGAAAGTGAGAAGACAAAG	0.493000												
ADAM32	203102	broad.mit.edu	37	8	39022629	39022629	+	Silent	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:39022629T>C	uc003xmt.3	+	9	992	c.747T>C	c.(745-747)GGT>GGC	p.G249G	ADAM32_uc011lch.1_Silent_p.G256G|ADAM32_uc003xmu.3_Silent_p.G249G	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	249	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTACAGTTGGTGAGGCAGATG	0.303000												
ANK1	286	broad.mit.edu	37	8	41530179	41530179	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:41530179C>A	uc003xok.2	-	38	4873	c.4789G>T	c.(4789-4791)GGT>TGT	p.G1597C	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.G1597C|ANK1_uc003xoj.2_Missense_Mutation_p.G1597C|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Missense_Mutation_p.G1638C	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1597	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACTCGTGACCTGTGGCATCA	0.602000												
DKK4	27121	broad.mit.edu	37	8	42231818	42231818	+	Missense_Mutation	SNP	G	G	A	rs140976265		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:42231818G>A	uc003xpb.2	-	4	586	c.475C>T	c.(475-477)CGT>TGT	p.R159C		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	dickkopf homolog 4 precursor	159	DKK-type Cys-2.				multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				ovary(1)	1	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAAAAATGACGAGCACAGCAA	0.448000												
KIAA0146	23514	broad.mit.edu	37	8	48353071	48353071	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:48353071G>A	uc003xqd.2	+	8	1073	c.1064G>A	c.(1063-1065)CGT>CAT	p.R355H	KIAA0146_uc011lcz.1_RNA|KIAA0146_uc011lda.1_Missense_Mutation_p.R44H|KIAA0146_uc011ldb.1_Missense_Mutation_p.R355H|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.R285H|KIAA0146_uc011ldd.1_Missense_Mutation_p.R295H|KIAA0146_uc003xqe.2_5'UTR|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.R44H|KIAA0146_uc010lxt.2_Missense_Mutation_p.R44H	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	355											0		Lung NSC(58;0.175)				CTCAGGGGCCGTCCCCAGGAC	0.572000												
PXDNL	137902	broad.mit.edu	37	8	52258393	52258393	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:52258393C>G	uc003xqu.3	-	20	4117	c.4016G>C	c.(4015-4017)AGG>ACG	p.R1339T	PXDNL_uc003xqt.3_Intron	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1339					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTATACATACCTACTTCTTAG	0.348000												
TERF1	7013	broad.mit.edu	37	8	73942591	73942591	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:73942591C>T	uc003xzd.2	+	7	933	c.908C>T	c.(907-909)GCG>GTG	p.A303V	TERF1_uc003xze.2_Intron	NM_017489	NP_059523	P54274	TERF1_HUMAN	telomeric repeat binding factor 1 isoform 1	303	Interaction with RLIM.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			ovary(1)|lung(1)|skin(1)	3	Breast(64;0.218)		Epithelial(68;0.0984)			AAACAGTCTGCGGTAACTGAA	0.333000												
ZBTB10	65986	broad.mit.edu	37	8	81399898	81399898	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:81399898G>A	uc003ybx.3	+	1	1451	c.853G>A	c.(853-855)GTG>ATG	p.V285M	ZBTB10_uc003ybv.3_Intron|ZBTB10_uc003ybw.3_Missense_Mutation_p.V285M|ZBTB10_uc010lzt.2_Missense_Mutation_p.V285M	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10 isoform	285					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)	1	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TGGGGGAAGCGTGGACCTTCC	0.577000												
GDF6	392255	broad.mit.edu	37	8	97156923	97156923	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:97156923G>A	uc003yhp.2	-	2	1336	c.1236C>T	c.(1234-1236)CCC>CCT	p.P412P		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	412					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)					GGGTGGAGCCGGGGTCCATGG	0.597000												
MATN2	4147	broad.mit.edu	37	8	98943442	98943442	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:98943442T>G	uc003yic.2	+	3	635	c.404T>G	c.(403-405)ATG>AGG	p.M135R	MATN2_uc003yib.1_Missense_Mutation_p.M135R|MATN2_uc010mbh.1_Missense_Mutation_p.M135R|MATN2_uc003yid.2_Missense_Mutation_p.M135R|MATN2_uc003yie.1_Missense_Mutation_p.M135R|MATN2_uc010mbi.1_Missense_Mutation_p.M9R	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	135	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ACGGGCACCATGACTGGGCTG	0.582000												
VPS13B	157680	broad.mit.edu	37	8	100287380	100287380	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:100287380A>G	uc003yiv.2	+	19	2833	c.2722A>G	c.(2722-2724)AAG>GAG	p.K908E	VPS13B_uc003yiw.2_Missense_Mutation_p.K908E|VPS13B_uc003yiu.1_Missense_Mutation_p.K908E|VPS13B_uc003yix.1_Missense_Mutation_p.K379E	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	908					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCATAGCACCAAGTGGCTCAA	0.383000												
RNF19A	25897	broad.mit.edu	37	8	101271170	101271170	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:101271170G>T	uc003yjj.1	-	11	2448	c.2131C>A	c.(2131-2133)CCA>ACA	p.P711T	RNF19A_uc003yjk.1_Missense_Mutation_p.P711T	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	ring finger protein 19	711	Interaction with CASR.				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTGAGGGATGGAGCCTCAAAT	0.403000											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DCAF13	25879	broad.mit.edu	37	8	104432506	104432506	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:104432506G>T	uc003yln.2	+	2	818	c.541G>T	c.(541-543)GAT>TAT	p.D181Y	DCAF13_uc003ylm.1_Intron|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	29					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						AAGAAACTATGATCCTGCTTT	0.363000												
RIMS2	9699	broad.mit.edu	37	8	105105702	105105702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:105105702C>T	uc003yls.2	+	21	2966	c.2725C>T	c.(2725-2727)CGA>TGA	p.R909*	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R982*|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	365					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAACAGTATCGATCAGGATG	0.388000										HNSCC(12;0.0054)		
LRP12	29967	broad.mit.edu	37	8	105509814	105509814	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:105509814C>A	uc003yma.2	-	5	1061	c.966G>T	c.(964-966)GAG>GAT	p.E322D	LRP12_uc003ymb.2_Missense_Mutation_p.E303D|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	322	Extracellular (Potential).|CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTGGATTCTCCTCTAATCCAT	0.383000												
SLC30A8	169026	broad.mit.edu	37	8	118170071	118170071	+	Missense_Mutation	SNP	C	C	T	rs141202988		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:118170071C>T	uc003yoh.2	+	4	790	c.560C>T	c.(559-561)GCG>GTG	p.A187V	SLC30A8_uc010mcz.2_Missense_Mutation_p.A138V|SLC30A8_uc011lia.1_Missense_Mutation_p.A138V|SLC30A8_uc003yog.2_Missense_Mutation_p.A138V	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	187	Helical; (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.A187V(1)		ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCGCAGTGGCGGCCAACATT	0.517000												
MED30	90390	broad.mit.edu	37	8	118540959	118540959	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:118540959C>T	uc003yoj.2	+	2	398	c.247C>T	c.(247-249)CGC>TGC	p.R83C	MED30_uc011lib.1_Missense_Mutation_p.R83C	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	TRAP/Mediator complex component TRAP25	83	Potential.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|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				0	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			GGATAATCTTCGCCAACTTTC	0.393000												
MTBP	27085	broad.mit.edu	37	8	121463538	121463538	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:121463538G>A	uc003ypc.1	+	4	446	c.401G>A	c.(400-402)AGC>AAC	p.S134N	MTBP_uc003ypb.1_Missense_Mutation_p.S134N|MTBP_uc011lie.1_RNA	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	134					cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GACAGTAATAGCAGGGAATCA	0.299000												
ATAD2	29028	broad.mit.edu	37	8	124361578	124361578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:124361578G>A	uc003yqh.3	-	14	1861	c.1753C>T	c.(1753-1755)CGA>TGA	p.R585*	ATAD2_uc011lii.1_Nonsense_Mutation_p.R376*|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Nonsense_Mutation_p.R585*|MIR548D1_hsa-mir-548d-1|MI0003668_5'Flank	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCAGGCCTTCGTAAAGCAGGA	0.413000												
RNF139	11236	broad.mit.edu	37	8	125499067	125499067	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:125499067C>T	uc003yrc.2	+	2	1520	c.1177C>T	c.(1177-1179)CTG>TTG	p.L393L		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	393	Helical; (Potential).				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTTCCTGTGCTGTTTGTCTC	0.398000									Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			
ZNF572	137209	broad.mit.edu	37	8	125989004	125989004	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:125989004G>A	uc003yrr.2	+	3	649	c.494G>A	c.(493-495)TGT>TAT	p.C165Y		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	165	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	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)			TGCTCTGAGTGTGCAAAATGT	0.423000										HNSCC(60;0.17)		
ADCY8	114	broad.mit.edu	37	8	131848643	131848643	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:131848643C>A	uc003ytd.3	-	12	2811	c.2555G>T	c.(2554-2556)CGG>CTG	p.R852L	ADCY8_uc010mds.2_Missense_Mutation_p.R721L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	852					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)			GGAGTTCAGCCGGAGGAAAAC	0.542000										HNSCC(32;0.087)		
DENND3	22898	broad.mit.edu	37	8	142186754	142186754	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:142186754C>T	uc003yvy.2	+	15	2638	c.2360C>T	c.(2359-2361)GCG>GTG	p.A787V	DENND3_uc010mep.2_Missense_Mutation_p.A748V	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	787										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|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;0.105)			ATCAGAGTGGCGTCCAAGAAA	0.478000												
CYP11B2	1585	broad.mit.edu	37	8	143995763	143995763	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:143995763C>T	uc003yxk.1	-	5	874	c.871G>A	c.(871-873)GCG>ACG	p.A291T		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	291					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AGGAGCTCCGCCACGATGCCT	0.572000									Familial_Hyperaldosteronism_type_I			
LY6E	4061	broad.mit.edu	37	8	144103156	144103156	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:144103156G>A	uc003yxn.2	+	4	500	c.346G>A	c.(346-348)GCC>ACC	p.A116T	LY6E_uc003yxm.2_Missense_Mutation_p.A116T|LY6E_uc003yxo.2_RNA	NM_001127213	NP_001120685	Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E precursor	116					cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane					0	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCTGCTGGGTGCCGGGCTGCT	0.672000												
C8orf31	286122	broad.mit.edu	37	8	144126111	144126111	+	Missense_Mutation	SNP	G	G	A	rs137944456		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:144126111G>A	uc003yxp.1	+	4	584	c.232G>A	c.(232-234)GCT>ACT	p.A78T	C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_RNA	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	hypothetical protein LOC286122	78										ovary(1)	1	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGCCAAAGACGCTCACTTTCT	0.617000												
FAM83H	286077	broad.mit.edu	37	8	144810317	144810317	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:144810317G>A	uc003yzk.2	-	5	1383	c.1314C>T	c.(1312-1314)GGC>GGT	p.G438G	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	438					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGAAGTCGTCGCCGTGGCTGA	0.706000												
NRBP2	340371	broad.mit.edu	37	8	144919465	144919465	+	Silent	SNP	C	C	T	rs141817014		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:144919465C>T	uc011lkt.1	-	13	1223	c.1083G>A	c.(1081-1083)TCG>TCA	p.S361S	NRBP2_uc003yzv.2_Silent_p.S118S|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_Silent_p.S153S|NRBP2_uc010mfl.2_Silent_p.S153S|NRBP2_uc010mfm.2_Silent_p.S118S|NRBP2_uc011lks.1_Silent_p.S118S|NRBP2_uc003yzy.2_Silent_p.S118S	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	361					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)	2	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGAGACTTCCGAGTACCTGG	0.473000												
PLEC	5339	broad.mit.edu	37	8	144993912	144993912	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:144993912G>A	uc003zaf.1	-	32	10658	c.10488C>T	c.(10486-10488)GGC>GGT	p.G3496G	PLEC_uc003zab.1_Silent_p.G3359G|PLEC_uc003zac.1_Silent_p.G3363G|PLEC_uc003zad.2_Silent_p.G3359G|PLEC_uc003zae.1_Silent_p.G3327G|PLEC_uc003zag.1_Silent_p.G3337G|PLEC_uc003zah.2_Silent_p.G3345G|PLEC_uc003zaj.2_Silent_p.G3386G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3496	Plectin 12.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCAGGTAGATGCCGGCGAGGC	0.662000												
PLEC	5339	broad.mit.edu	37	8	144996889	144996889	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:144996889G>A	uc003zaf.1	-	31	7789	c.7619C>T	c.(7618-7620)GCC>GTC	p.A2540V	PLEC_uc003zab.1_Missense_Mutation_p.A2403V|PLEC_uc003zac.1_Missense_Mutation_p.A2407V|PLEC_uc003zad.2_Missense_Mutation_p.A2403V|PLEC_uc003zae.1_Missense_Mutation_p.A2371V|PLEC_uc003zag.1_Missense_Mutation_p.A2381V|PLEC_uc003zah.2_Missense_Mutation_p.A2389V|PLEC_uc003zaj.2_Missense_Mutation_p.A2430V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2540	Central fibrous rod domain.|Potential.				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						GAAGCGCTGGGCGTCCTCCTC	0.687000												
PLEC	5339	broad.mit.edu	37	8	145002109	145002109	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:145002109C>T	uc003zaf.1	-	26	3893	c.3723G>A	c.(3721-3723)GTG>GTA	p.V1241V	PLEC_uc003zab.1_Silent_p.V1104V|PLEC_uc003zac.1_Silent_p.V1108V|PLEC_uc003zad.2_Silent_p.V1104V|PLEC_uc003zae.1_Silent_p.V1072V|PLEC_uc003zag.1_Silent_p.V1082V|PLEC_uc003zah.2_Silent_p.V1090V|PLEC_uc003zaj.2_Silent_p.V1131V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1241	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						GGGCCCTGAGCACCTCCTCGG	0.677000												
OPLAH	26873	broad.mit.edu	37	8	145113453	145113453	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:145113453G>A	uc003zar.3	-	6	811	c.729C>T	c.(727-729)CCC>CCT	p.P243P	OPLAH_uc003zat.1_Silent_p.P21P	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	243							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCTGGATGGCGGGCGTGAGGT	0.687000												
VPS28	51160	broad.mit.edu	37	8	145649444	145649444	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:145649444G>A	uc003zcr.1	-	8	581	c.528C>T	c.(526-528)GGC>GGT	p.G176G	VPS28_uc003zcs.1_Silent_p.G176G|VPS28_uc003zct.1_Silent_p.G176G	NM_016208	NP_057292	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 isoform 1	176	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding				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;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCGTCTGGCGGCCCTCAAAGT	0.697000												
PPP1R16A	84988	broad.mit.edu	37	8	145726929	145726929	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:145726929G>A	uc003zdd.2	+	11	2143	c.1230G>A	c.(1228-1230)CCG>CCA	p.P410P	uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Silent_p.P410P|GPT_uc011lli.1_5'Flank|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.3_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	410						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)			TGGTCAGGCCGCACAATGGCC	0.647000												
LRRC24	441381	broad.mit.edu	37	8	145747941	145747941	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:145747941G>A	uc003zdm.2	-	5	1592	c.1460C>T	c.(1459-1461)GCG>GTG	p.A487V	LRRC24_uc003zdn.2_Missense_Mutation_p.A484V|LRRC14_uc003zdk.1_3'UTR|LRRC14_uc003zdl.1_3'UTR|LRRC14_uc003zdo.2_5'Flank	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24 precursor	487						integral to membrane					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)			GTCAGCGGGCGCCTCCGCCGG	0.726000												
DMRT1	1761	broad.mit.edu	37	9	841907	841907	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:841907G>A	uc003zgv.2	+	1	218	c.69G>A	c.(67-69)CCG>CCA	p.P23P	DMRT1_uc003zgu.1_Silent_p.P23P	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor	23					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		CCGGGGTACCGCCGCAGGGCA	0.716000												
CD274	29126	broad.mit.edu	37	9	5457282	5457282	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:5457282C>T	uc003zje.2	+	3	308	c.256C>T	c.(256-258)CGG>TGG	p.R86W	C9orf46_uc003zjd.2_Intron|CD274_uc011lmb.1_Missense_Mutation_p.R86W|CD274_uc010mhn.2_RNA|CD274_uc003zjf.2_Intron	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	CD274 molecule precursor	86	Extracellular (Potential).|Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			lung(1)|central_nervous_system(1)	2	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		ACAGAGGGCCCGGCTGTTGAA	0.478000			T	CIITA	PMBL|Hodgkin Lymphona|							
TYRP1	7306	broad.mit.edu	37	9	12695537	12695537	+	Silent	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:12695537A>G	uc003zkv.3	+	3	586	c.408A>G	c.(406-408)TTA>TTG	p.L136L		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1 precursor	136	Lumenal, melanosome (Potential).				melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCTGGACTTAAGTAAAGAAG	0.423000									Oculocutaneous_Albinism			
BNC2	54796	broad.mit.edu	37	9	16435703	16435703	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:16435703G>T	uc003zml.2	-	6	2629	c.2489C>A	c.(2488-2490)CCA>CAA	p.P830Q	BNC2_uc011lmw.1_Missense_Mutation_p.P735Q|BNC2_uc003zmm.2_Missense_Mutation_p.P788Q|BNC2_uc003zmq.1_Missense_Mutation_p.P844Q|BNC2_uc003zmr.1_Missense_Mutation_p.P867Q|BNC2_uc003zmp.1_Missense_Mutation_p.P858Q|BNC2_uc010mij.1_Missense_Mutation_p.P752Q|BNC2_uc011lmv.1_Missense_Mutation_p.P656Q|BNC2_uc003zmo.1_Missense_Mutation_p.P752Q|BNC2_uc003zmj.2_Missense_Mutation_p.P595Q|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.P595Q|BNC2_uc003zmn.1_Missense_Mutation_p.P595Q	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TTTGGGGTCTGGGCTAGAACA	0.488000												
ZBTB5	9925	broad.mit.edu	37	9	37441517	37441517	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:37441517G>A	uc003zzx.2	-	2	1232	c.1032C>T	c.(1030-1032)AGC>AGT	p.S344S		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	344					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)		AGGTCACATCGCTCACTTCAT	0.537000												
APBA1	320	broad.mit.edu	37	9	72082835	72082835	+	Silent	SNP	G	G	A	rs141287424		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:72082835G>A	uc004ahh.2	-	5	1662	c.1386C>T	c.(1384-1386)GCC>GCT	p.A462A		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	462	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						GGTAATTGGCGGCAAAAATGA	0.552000												
TRPM3	80036	broad.mit.edu	37	9	73152148	73152148	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:73152148C>T	uc004aid.2	-	25	4089	c.3845G>A	c.(3844-3846)CGC>CAC	p.R1282H	TRPM3_uc004ahu.2_Missense_Mutation_p.R1124H|TRPM3_uc004ahv.2_Missense_Mutation_p.R1084H|TRPM3_uc004ahw.2_Missense_Mutation_p.R1154H|TRPM3_uc004ahx.2_Missense_Mutation_p.R1141H|TRPM3_uc004ahy.2_Missense_Mutation_p.R1144H|TRPM3_uc004ahz.2_Missense_Mutation_p.R1131H|TRPM3_uc004aia.2_Missense_Mutation_p.R1129H|TRPM3_uc004aib.2_Missense_Mutation_p.R1119H|TRPM3_uc004aic.2_Missense_Mutation_p.R1282H	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1307	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GGTCCTCGAGCGGATTTTGTT	0.612000												
C9orf85	138241	broad.mit.edu	37	9	74526748	74526748	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:74526748C>T	uc004ain.2	+	1	326	c.98C>T	c.(97-99)ACC>ATC	p.T33I	C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_RNA|C9orf85_uc010mov.2_RNA|FAM108B1_uc004ail.2_5'Flank|FAM108B1_uc004aim.1_5'Flank	NM_182505	NP_872311	Q96MD7	CI085_HUMAN	hypothetical protein LOC138241	33	Lys-rich.										0						AGTGTGCAGACCAAGGTAGGA	0.527000												
PRUNE2	158471	broad.mit.edu	37	9	79324975	79324975	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:79324975G>A	uc010mpk.2	-	8	2339	c.2215C>T	c.(2215-2217)CCG>TCG	p.P739S		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	739					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TTCTGGAACGGCAAGCTTTCC	0.458000												
PRUNE2	158471	broad.mit.edu	37	9	79469039	79469039	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:79469039T>C	uc010mpk.2	-	2	246	c.122A>G	c.(121-123)TAT>TGT	p.Y41C	PRUNE2_uc004akn.2_Missense_Mutation_p.Y41C	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	41					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						AAAGTAAGCATATGTGAAGGT	0.343000												
SHC3	53358	broad.mit.edu	37	9	91656996	91656996	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:91656996C>A	uc004aqg.2	-	10	1612	c.1305G>T	c.(1303-1305)TGG>TGT	p.W435C		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	435	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						CCGCAGCCGGCCAGGCCTGTG	0.562000												
SECISBP2	79048	broad.mit.edu	37	9	91964783	91964783	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:91964783G>A	uc004aqj.1	+	13	1911	c.1831G>A	c.(1831-1833)GCC>ACC	p.A611T	SECISBP2_uc011ltk.1_Missense_Mutation_p.A610T|SECISBP2_uc004aqk.1_Missense_Mutation_p.A538T|SECISBP2_uc010mqo.1_Missense_Mutation_p.A316T|SECISBP2_uc011ltl.1_Missense_Mutation_p.A543T	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	611					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3						GGACACAGAGGCCTCCCACCT	0.592000												
FGD3	89846	broad.mit.edu	37	9	95738953	95738953	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:95738953A>G	uc004asw.2	+	3	1043	c.415A>G	c.(415-417)ACC>GCC	p.T139A	FGD3_uc004asx.2_Missense_Mutation_p.T139A|FGD3_uc004asz.2_Missense_Mutation_p.T139A	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	139					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						CTCTGAGAACACCCCCCAGAA	0.667000												
ZNF169	169841	broad.mit.edu	37	9	97063569	97063569	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:97063569C>T	uc004aum.1	+	5	1834	c.1729C>T	c.(1729-1731)CGT>TGT	p.R577C		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	577	C2H2-type 13; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				GGAGTGTGGGCGTGGCTTTAG	0.557000												
PTCH1	5727	broad.mit.edu	37	9	98209385	98209385	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:98209385G>A	uc004avk.3	-	23	4341	c.4153C>T	c.(4153-4155)CCT>TCT	p.P1385S	PTCH1_uc010mrn.2_Missense_Mutation_p.P177S|PTCH1_uc010mro.2_Missense_Mutation_p.P1234S|PTCH1_uc010mrp.2_Missense_Mutation_p.P1234S|PTCH1_uc010mrq.2_Missense_Mutation_p.P1234S|PTCH1_uc004avl.3_Missense_Mutation_p.P1234S|PTCH1_uc010mrr.2_Missense_Mutation_p.P1319S|PTCH1_uc004avm.3_Missense_Mutation_p.P1384S	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1385	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCAGGGACAGGCGGCGGGTGC	0.692000									Basal_Cell_Nevus_syndrome			
TRIM14	9830	broad.mit.edu	37	9	100857274	100857274	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:100857274A>G	uc004ayd.2	-	4	593	c.575T>C	c.(574-576)ATG>ACG	p.M192T	TRIM14_uc004ayf.1_Missense_Mutation_p.M99T|TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.M192T|TRIM14_uc004ayh.1_Missense_Mutation_p.M192T|TRIM14_uc004ayi.1_Missense_Mutation_p.M192T|TRIM14_uc004ayj.1_Missense_Mutation_p.M99T	NM_033220	NP_150089	Q14142	TRI14_HUMAN	tripartite motif protein TRIM14 isoform alpha	192						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CCCGAGGCTCATCTGCTGCTG	0.622000												
COL15A1	1306	broad.mit.edu	37	9	101829281	101829281	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:101829281C>A	uc004azb.1	+	40	3975	c.3769C>A	c.(3769-3771)CAT>AAT	p.H1257N		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1257	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				CTTATCTTCCCATTTGCAAGA	0.463000												
TEX10	54881	broad.mit.edu	37	9	103090122	103090122	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:103090122C>T	uc004bas.2	-	8	1963	c.1748G>A	c.(1747-1749)CGA>CAA	p.R583Q	TEX10_uc011lvf.1_Missense_Mutation_p.R422Q|TEX10_uc011lvg.1_Missense_Mutation_p.R586Q	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	583						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTTATTTGCTCGTGCTGCAGC	0.433000												
GRIN3A	116443	broad.mit.edu	37	9	104335629	104335629	+	Missense_Mutation	SNP	G	G	A	rs145862529		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:104335629G>A	uc004bbp.1	-	9	3776	c.3175C>T	c.(3175-3177)CGG>TGG	p.R1059W	GRIN3A_uc004bbo.1_Missense_Mutation_p.R134W	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	1059	Cytoplasmic (Potential).|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)	TTGGTGGTCCGCAAGGCAGGG	0.527000												
GRIN3A	116443	broad.mit.edu	37	9	104499831	104499831	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:104499831T>C	uc004bbp.1	-	1	1032	c.431A>G	c.(430-432)TAC>TGC	p.Y144C	GRIN3A_uc004bbq.1_Missense_Mutation_p.Y144C	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	144	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)	AGACAGGTTGTAGGGTAGCAG	0.637000												
OR13C5	138799	broad.mit.edu	37	9	107360934	107360934	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:107360934G>A	uc011lvp.1	-	1	761	c.761C>T	c.(760-762)ACC>ATC	p.T254I		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	254	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GAGGAAGATGGTCCCACAGAA	0.433000												
ZNF462	58499	broad.mit.edu	37	9	109689449	109689449	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:109689449G>T	uc004bcz.2	+	3	3545	c.3256G>T	c.(3256-3258)GGT>TGT	p.G1086C	ZNF462_uc010mto.2_Missense_Mutation_p.G934C|ZNF462_uc004bda.2_Missense_Mutation_p.G934C	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1086					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						ATTTGAGGTGGGTGCTCCAAT	0.517000												
SVEP1	79987	broad.mit.edu	37	9	113242031	113242031	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:113242031G>T	uc010mtz.2	-	13	2708	c.2371C>A	c.(2371-2373)CGT>AGT	p.R791S	SVEP1_uc010mua.1_Missense_Mutation_p.R791S|SVEP1_uc004beu.2_Missense_Mutation_p.R791S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	791					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TTTGCAAAACGTTTTTCTAGA	0.338000												
SLC46A2	57864	broad.mit.edu	37	9	115642093	115642093	+	Silent	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:115642093C>A	uc004bgk.2	-	4	1609	c.1377G>T	c.(1375-1377)GTG>GTT	p.V459V		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	459	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						GTTTATAGGCCACGATGCTGT	0.368000												
TNC	3371	broad.mit.edu	37	9	117849317	117849317	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:117849317G>A	uc004bjj.3	-	3	1055	c.693C>T	c.(691-693)TGC>TGT	p.C231C	TNC_uc010mvf.2_Silent_p.C231C	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	231	EGF-like 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CTCCATTTACGCACTTGCCCT	0.612000												
DBC1	1620	broad.mit.edu	37	9	121971175	121971175	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:121971175G>T	uc004bkc.2	-	7	1423	c.967C>A	c.(967-969)CTG>ATG	p.L323M		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	323					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						CCGATGGTCAGGAAGTGGTTG	0.507000												
CEP110	11064	broad.mit.edu	37	9	123860802	123860802	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:123860802C>T	uc004bkx.1	+	5	791	c.760C>T	c.(760-762)CCA>TCA	p.P254S	CEP110_uc004bkw.2_Missense_Mutation_p.P254S	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	254	LRRCT.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						GGAAGGTCAGCCAGTAACCAC	0.378000												
RABGAP1	23637	broad.mit.edu	37	9	125836582	125836582	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:125836582T>C	uc011lzh.1	+	17	2262	c.2128T>C	c.(2128-2130)TAC>CAC	p.Y710H	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Missense_Mutation_p.Y49H	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	710	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						TCCTGACCTGTACAACCACTT	0.428000												
DENND1A	57706	broad.mit.edu	37	9	126202750	126202750	+	Silent	SNP	G	G	A	rs141991289		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:126202750G>A	uc004bnz.1	-	19	1610	c.1377C>T	c.(1375-1377)TGC>TGT	p.C459C	DENND1A_uc011lzl.1_Silent_p.C234C|DENND1A_uc004bny.1_Silent_p.C198C|DENND1A_uc011lzm.1_Silent_p.C427C|DENND1A_uc004boa.1_Silent_p.C459C|DENND1A_uc004bob.1_Silent_p.C429C|DENND1A_uc004boc.2_Silent_p.C427C|DENND1A_uc010mwh.1_5'UTR	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	459						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						GGGTGGGGGCGCAGCCATTCT	0.622000												
NEK6	10783	broad.mit.edu	37	9	127101923	127101923	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:127101923C>T	uc004bog.2	+	8	845	c.696C>T	c.(694-696)TCC>TCT	p.S232S	NEK6_uc004bof.2_Silent_p.S250S|NEK6_uc004boh.2_Silent_p.S266S|NEK6_uc010mwj.2_Silent_p.S185S|NEK6_uc010mwk.2_Silent_p.S232S|NEK6_uc004boi.2_Silent_p.S232S	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	232	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						ACATCTGGTCCCTGGGCTGTC	0.602000												
RABEPK	10244	broad.mit.edu	37	9	127982924	127982924	+	Silent	SNP	C	C	T	rs1045383		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:127982924C>T	uc004bpi.2	+	6	644	c.471C>T	c.(469-471)GGC>GGT	p.G157G	RABEPK_uc004bph.1_3'UTR|RABEPK_uc004bpj.2_Silent_p.G106G|RABEPK_uc004bpk.2_Silent_p.G157G|RABEPK_uc004bpl.1_Silent_p.G106G|RABEPK_uc004bpm.2_Silent_p.G157G	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	157	Kelch 3.				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						TCTTTGGGGGCGGAGAGAGAG	0.597000												
GOLGA2	2801	broad.mit.edu	37	9	131028142	131028142	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:131028142C>A	uc011maw.1	-	10	683	c.670G>T	c.(670-672)GGG>TGG	p.G224W	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004bul.1_Missense_Mutation_p.G125W|GOLGA2_uc004bum.1_Missense_Mutation_p.G98W	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	224	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						ACGAGGATCCCTATGGTCTGA	0.512000												
SPTAN1	6709	broad.mit.edu	37	9	131395598	131395598	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:131395598G>A	uc004bvl.3	+	56	7517	c.7404G>A	c.(7402-7404)TCG>TCA	p.S2468S	SPTAN1_uc004bvm.3_Silent_p.S2473S|SPTAN1_uc004bvn.3_Silent_p.S2448S|SPTAN1_uc004bvo.3_Silent_p.S235S|SPTAN1_uc004bvp.3_Silent_p.S211S	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2468					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						TCACCCGCTCGCTTTTCGTGA	0.632000												
PKN3	29941	broad.mit.edu	37	9	131476529	131476529	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:131476529C>T	uc004bvw.2	+	11	1759	c.1366C>T	c.(1366-1368)CGC>TGC	p.R456C	PKN3_uc010myh.2_Missense_Mutation_p.R456C|PKN3_uc011mbk.1_Missense_Mutation_p.R6C	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	456					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						GGCCTGGGGGCGCCTCGTCAT	0.662000												
FAM73B	84895	broad.mit.edu	37	9	131825895	131825895	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:131825895G>A	uc004bxa.2	+	11	1341	c.1155G>A	c.(1153-1155)ATG>ATA	p.M385I	FAM73B_uc004bwy.2_RNA|FAM73B_uc004bwz.2_Intron|FAM73B_uc011mbn.1_Missense_Mutation_p.M385I	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	hypothetical protein LOC84895	385						integral to membrane				skin(1)	1						CAGGCCTGATGACCAAGGCTG	0.582000												
RAPGEF1	2889	broad.mit.edu	37	9	134501510	134501510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:134501510G>A	uc004cbc.2	-	10	1580	c.1450C>T	c.(1450-1452)CAG>TAG	p.Q484*	RAPGEF1_uc004cbb.2_Nonsense_Mutation_p.Q502*|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Nonsense_Mutation_p.Q489*|RAPGEF1_uc004cbd.2_Nonsense_Mutation_p.Q489*	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	484					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TTGTCATACTGCGAGGGATGC	0.637000												
TTF1	7270	broad.mit.edu	37	9	135277575	135277575	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:135277575C>T	uc004cbl.2	-	2	686	c.634G>A	c.(634-636)GCA>ACA	p.A212T	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	212	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGAGCAGATGCTGGTAGTTCT	0.512000												
SLC2A6	11182	broad.mit.edu	37	9	136340541	136340541	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:136340541T>G	uc004cee.2	-	5	850	c.755A>C	c.(754-756)CAG>CCG	p.Q252P	SLC2A6_uc004cef.2_Missense_Mutation_p.Q252P|SLC2A6_uc004ceg.2_Missense_Mutation_p.Q229P|SLC2A6_uc011mdj.1_3'UTR	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose	252	Cytoplasmic (Potential).					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GACGTTGTCCTGGATCTGCTC	0.672000												
FCN2	2220	broad.mit.edu	37	9	137778363	137778363	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:137778363C>T	uc004cfg.1	+	7	657	c.647C>T	c.(646-648)GCG>GTG	p.A216V	FCN2_uc004cfh.1_Missense_Mutation_p.A178V	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	216	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCCGACGAGGCGGAGAAGTAC	0.572000												
KCNT1	57582	broad.mit.edu	37	9	138651678	138651678	+	Silent	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:138651678C>T	uc011mdq.1	+	11	1082	c.1008C>T	c.(1006-1008)TGC>TGT	p.C336C	KCNT1_uc011mdr.1_Silent_p.C163C|KCNT1_uc010nbf.2_Silent_p.C291C|KCNT1_uc004cgo.1_Silent_p.C85C	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	336						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)		TCATGATCTGCGTGGCCCTCG	0.642000												
SNAPC4	6621	broad.mit.edu	37	9	139272627	139272628	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:139272627_139272628GC>CT	uc004chh.2	-	21	3660_3661	c.3651_3652GC>AG	c.(3649-3654)GAGCCA>GAAGCA	p.P1218A		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1218	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTCCCCCTTGGCTCAGTTGCTG	0.698000												
FAM69B	138311	broad.mit.edu	37	9	139617657	139617657	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:139617657G>A	uc004cik.2	+	5	821	c.727G>A	c.(727-729)GCC>ACC	p.A243T	FAM69B_uc004cil.2_Missense_Mutation_p.A156T|SNHG7_uc004cim.2_Intron	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	243	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		GCACGCGGCCGCCCTTCCACC	0.706000												
ASMTL	8623	broad.mit.edu	37	X	1536899	1536899	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:1536899C>T	uc004cpx.1	-	11	1600	c.1489G>A	c.(1489-1491)GGA>AGA	p.G497R	ASMTL_uc011mhe.1_Missense_Mutation_p.G421R|ASMTL_uc004cpy.1_Missense_Mutation_p.G481R|ASMTL_uc011mhf.1_Missense_Mutation_p.G439R	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	497	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase 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)				GCCTGCGGTCCGGGGGGTTGG	0.597000												
ACOT9	23597	broad.mit.edu	37	X	23740851	23740851	+	Silent	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:23740851G>A	uc004dap.2	-	6	539	c.393C>T	c.(391-393)CAC>CAT	p.H131H	ACOT9_uc004dao.2_Silent_p.H140H|ACOT9_uc004daq.2_Silent_p.H89H|ACOT9_uc004dar.2_Silent_p.H71H|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Silent_p.H71H|ACOT9_uc004dat.1_Silent_p.H131H	NM_001033583	NP_001028755	Q9Y305	ACOT9_HUMAN	acyl-Coenzyme A thioesterase 2, mitochondrial	131					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(2)|pancreas(1)	3						GGATTTTGTTGTGCATGTAAC	0.368000												
NDUFB11	54539	broad.mit.edu	37	X	47001792	47001792	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:47001792C>T	uc004dhd.2	-	3	917	c.386G>A	c.(385-387)CGA>CAA	p.R129Q	NDUFB11_uc004dhc.2_Missense_Mutation_p.R139Q|RBM10_uc004dhe.1_5'Flank|RBM10_uc004dhf.2_5'Flank|RBM10_uc004dhg.2_5'Flank|RBM10_uc004dhh.2_5'Flank|RBM10_uc010nhq.2_5'Flank|RBM10_uc004dhi.2_5'Flank	NM_001135998	NP_001129470	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	129					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I					0						ATTGGCCTCTCGGTATTTCAC	0.542000												
WAS	7454	broad.mit.edu	37	X	48544502	48544502	+	Missense_Mutation	SNP	C	C	T	rs145040665	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:48544502C>T	uc004dkm.3	+	6	595	c.538C>T	c.(538-540)CAT>TAT	p.H180Y		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	180					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)				CCTGCCCCTGCATCCAGGTGG	0.423000			Mis|N|F|S			lymphoma			Wiskott-Aldrich_syndrome			
ALAS2	212	broad.mit.edu	37	X	55040074	55040074	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:55040074T>G	uc004dua.3	-	10	1583	c.1445A>C	c.(1444-1446)AAT>ACT	p.N482T	ALAS2_uc004dub.3_Missense_Mutation_p.N469T|ALAS2_uc004dud.3_Missense_Mutation_p.N445T	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	482					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	GAGTGCTGCATTGCCCACCTG	0.542000												
OPHN1	4983	broad.mit.edu	37	X	67273626	67273626	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:67273626G>A	uc004dww.3	-	22	2479	c.2185C>T	c.(2185-2187)CGG>TGG	p.R729W	OPHN1_uc011mpg.1_Missense_Mutation_p.R621W	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	729	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2						CCTGGAGGCCGCACTTTGCTG	0.547000												
SLC7A3	84889	broad.mit.edu	37	X	70147375	70147375	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:70147375C>T	uc004dyn.2	-	7	1300	c.1142G>A	c.(1141-1143)CGC>CAC	p.R381H	SLC7A3_uc004dyo.2_Missense_Mutation_p.R381H	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	381	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GATTGGGGTGCGTGTGCCGGT	0.557000												
PHKA1	5255	broad.mit.edu	37	X	71801013	71801013	+	Missense_Mutation	SNP	C	C	T	rs144813238	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:71801013C>T	uc004eax.3	-	32	3812	c.3511G>A	c.(3511-3513)GCA>ACA	p.A1171T	PHKA1_uc004eay.3_Missense_Mutation_p.A1158T|PHKA1_uc011mqi.1_Missense_Mutation_p.A1099T|PHKA1_uc010nll.2_Missense_Mutation_p.A203T	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	1171					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					GTATCATCTGCGCCAAGGGTT	0.438000												
NXF2B	728343	broad.mit.edu	37	X	101623733	101623733	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:101623733T>G	uc004ejb.3	-	19	2501	c.629A>C	c.(628-630)AAG>ACG	p.K210T	NXF2B_uc004eiz.3_Missense_Mutation_p.K122T|NXF2B_uc004eja.3_Missense_Mutation_p.K210T|NXF2_uc004eiy.3_Missense_Mutation_p.K210T	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	210					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding			ovary(1)	1						TTGGCCTGGCTTCAACTTATT	0.478000												
GPRASP1	9737	broad.mit.edu	37	X	101909850	101909850	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:101909850C>T	uc004ejj.3	+	5	1810	c.1009C>T	c.(1009-1011)CGA>TGA	p.R337*	GPRASP1_uc004eji.3_Nonsense_Mutation_p.R337*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.R337*	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	337						cytoplasm	protein binding			ovary(1)|lung(1)	2						CAGGGCCAAGCGAGAAGCTTG	0.478000												
RGAG1	57529	broad.mit.edu	37	X	109695155	109695155	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:109695155T>C	uc004eor.1	+	3	1556	c.1310T>C	c.(1309-1311)ATG>ACG	p.M437T	RGAG1_uc011msr.1_Missense_Mutation_p.M437T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	437										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TCTGGAGCCATGACCACCTCA	0.507000												
UPF3B	65109	broad.mit.edu	37	X	118971950	118971950	+	Missense_Mutation	SNP	G	G	A	rs139646537	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:118971950G>A	uc004erz.1	-	10	1149	c.1072C>T	c.(1072-1074)CGC>TGC	p.R358C	UPF3B_uc004esa.1_Missense_Mutation_p.R345C	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	358	Sufficient for association with EJC core.			R -> H (in Ref. 4; AAI21018).	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3						CGAAGTATGCGCTCCTGATCT	0.473000												
STAG2	10735	broad.mit.edu	37	X	123196991	123196991	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:123196991C>G	uc004etz.3	+	18	2096	c.1757C>G	c.(1756-1758)ACT>AGT	p.T586S	STAG2_uc004eua.2_Missense_Mutation_p.T586S|STAG2_uc004eub.2_Missense_Mutation_p.T586S|STAG2_uc004euc.2_Missense_Mutation_p.T586S|STAG2_uc004eud.2_Missense_Mutation_p.T586S|STAG2_uc004eue.2_Missense_Mutation_p.T586S	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	586					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						GAAAAGGTGACTAACTTGTTG	0.308000												
ODZ1	10178	broad.mit.edu	37	X	123680890	123680890	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:123680890A>T	uc004euj.2	-	15	2549	c.2485T>A	c.(2485-2487)TAT>AAT	p.Y829N	ODZ1_uc011muj.1_Missense_Mutation_p.Y828N|ODZ1_uc010nqy.2_Missense_Mutation_p.Y829N	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	829	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						GGACTTATATAACAGTTGCTT	0.403000												
XPNPEP2	7512	broad.mit.edu	37	X	128873107	128873107	+	Translation_Start_Site	SNP	G	G	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:128873107G>T	uc004eut.1	+	1	162	c.-82G>T	c.(-84--80)AAGGC>AATGC		XPNPEP2_uc011mum.1_Translation_Start_Site	NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound						cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0						GCCCAGGAAAGGCCTGAAGGA	0.637000												
ELF4	2000	broad.mit.edu	37	X	129201300	129201300	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:129201300A>G	uc004evd.3	-	9	1773	c.1388T>C	c.(1387-1389)TTC>TCC	p.F463S	ELF4_uc004eve.3_Missense_Mutation_p.F463S	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	463					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTTCAGGGGGAAAGAGGCCTG	0.602000			T	ERG	AML							
G6PD	2539	broad.mit.edu	37	X	153762671	153762671	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:153762671C>T	uc004fly.1	-	6	639	c.526G>A	c.(526-528)GAC>AAC	p.D176N	G6PD_uc004flx.1_Missense_Mutation_p.D206N	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase isoform b	176			D -> G (in Shinshu; class I).		cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			ovary(4)	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)					CTCTGCAGGTCCCTCCCGAAG	0.617000												
IKBKG	8517	broad.mit.edu	37	X	153770626	153770626	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:153770626C>T	uc011mzr.1	+	1	168	c.148C>T	c.(148-150)CGC>TGC	p.R50C	G6PD_uc004flx.1_Intron|G6PD_uc004fly.1_Intron	NM_001099856	NP_001093326	Q9Y6K9	NEMO_HUMAN	inhibitor of kappa light polypeptide gene	Error:Variant_position_missing_in_Q9Y6K9_after_alignment					activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|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|transcription, DNA-dependent	cytosol|nucleus	metal ion binding|protein domain specific binding|signal transducer activity				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)					CTGTTCCAGGCGCACACTAGT	0.572000									Incontinentia_Pigmenti_type_2			
UTY	7404	broad.mit.edu	37	Y	15522892	15522892	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrY:15522892T>C	uc004fsx.1	-	6	1541	c.536A>G	c.(535-537)GAC>GGC	p.D179G	UTY_uc004fsy.2_Missense_Mutation_p.D179G|UTY_uc004fsz.2_Missense_Mutation_p.D179G	NM_007125	NP_009056	O14607	UTY_HUMAN	tetratricopeptide repeat protein isoform 3	179	TPR 3.				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AGACTTGTAGTCTGTGTTCAC	0.408000												
RNASEL	6041	broad.mit.edu	37	1	182545526	182545527	+	Splice_Site	INS	-	-	AA			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:182545526_182545527insAA	uc001gpj.1	-	5	2073	c.1906_splice	c.e5-1	p.I636_splice	RNASEL_uc009wxz.1_Splice_Site_p.I636_splice	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L						mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5						TTCATTAATCTAAAAAAACAAA	0.267									Hereditary_Prostate_Cancer			
CDH16	1014	broad.mit.edu	37	16	66947518	66947519	+	Splice_Site	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	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												
SCUBE1	80274	broad.mit.edu	37	22	43634962	43634963	+	Splice_Site	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:43634962_43634963insG	uc003bdt.1	-	7	816	c.728_splice	c.e7-1	p.E243_splice	SCUBE1_uc003bdu.1_Intron	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				CGCACGTCTCTGGGGAGGGAAA	0.485												
USP34	9736	broad.mit.edu	37	2	61577527	61577527	+	Splice_Site	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACAGTGTCTAAAAAAAAGA	0.338												
ANAPC1	64682	broad.mit.edu	37	2	112614258	112614259	+	Splice_Site	INS	-	-	T	rs4067742		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:112614257_112614258C>CT	uc002thi.3	-	13	1697	c.1450_splice	c.e13-1	p.K484_splice		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	484					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361												
MGAT5	4249	broad.mit.edu	37	2	135028124	135028124	+	Splice_Site	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:135028123_135028123TA>T	uc002ttw.4	+	2	551	c.406_splice	c.e2+2	p.D136_splice		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	136					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		ATGTGGCAGGTAAAAATAGCA	0.443												
CLASP2	23122	broad.mit.edu	37	3	33552259	33552259	+	Splice_Site	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:33552258_33552258TA>T	uc021wvc.1	-	37	4346	c.4135_splice	c.e37-1	p.V1379_splice	CLASP2_uc003cfs.3_Splice_Site_p.V578_splice|CLASP2_uc021wva.1_Splice_Site_p.V453_splice|CLASP2_uc021wvb.1_Splice_Site_p.V1158_splice	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1380										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCTCACCACCTAAAAAAAATA	0.353												
GPR128	84873	broad.mit.edu	37	3	100354673	100354673	+	Splice_Site	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:100354672_100354672TA>T	uc003duc.3	+	5	865	c.597_splice	c.e5+2	p.E199_splice	GPR128_uc011bhc.2_Splice_Site	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	199					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCACCTGAGGTAAAACTCACA	0.368												
IPO11	51194	broad.mit.edu	37	5	61770245	61770245	+	Splice_Site	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:61770244_61770244GT>G	uc011cqr.2	+	8	959	c.829_splice	c.e8-1	p.G277_splice	IPO11_uc003jtc.3_Splice_Site_p.G237_splice	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	237						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTTTTCTAGGGTTTTTTACAT	0.274												
FREM1	158326	broad.mit.edu	37	9	14769869	14769869	+	Splice_Site	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:14769868_14769868TA>T	uc003zlm.3	-	28	5876	c.5060_splice	c.e28-1	p.G1687_splice	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Splice_Site|FREM1_uc003zll.3_Splice_Site_p.G223_splice	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1687					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TAAATTCACCTAAAAAAAGAA	0.264												
DIP2C	22982	broad.mit.edu	37	10	395273	395273	+	Splice_Site	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:395272_395272TG>T	uc001ifp.3	-	25	3199	c.3109_splice	c.e25+1	p.G1037_splice	DIP2C_uc009xhi.1_Splice_Site_p.G423_splice	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1037						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGCCTGTACCTGGGGGGTAGA	0.667												
NAP1L4	4676	broad.mit.edu	37	11	2991167	2991167	+	Splice_Site	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:2991166_2991166TA>T	uc010qxm.2	-	8	687	c.403_splice	c.e8-1	p.G135_splice	NAP1L4_uc001lxc.3_Splice_Site_p.G135_splice|NAP1L4_uc010qxn.2_Splice_Site_p.G135_splice	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	135					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CATGTCTCCCTAAAAAAAAGA	0.418												
SF3B2	10992	broad.mit.edu	37	11	65836146	65836146	+	Splice_Site	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:65836145_65836145CA>C	uc001ogy.1	+	22	2657	c.2617_splice	c.e22-1	p.Q873_splice	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	873					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTATACAGCAAAAAAAACG	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CDH16	1014	broad.mit.edu	37	16	66947519	66947520	+	Splice_Site	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	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												
ABCA5	23461	broad.mit.edu	37	17	67261049	67261049	+	Splice_Site	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	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												
SCUBE1	80274	broad.mit.edu	37	22	43634963	43634964	+	Splice_Site	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:43634962_43634963T>TG	uc003bdt.2	-	7	855	c.728_splice	c.e7-1	p.E243_splice	SCUBE1_uc003bdu.2_Intron	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	243	EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CGCACGTCTCTGGGGAGGGAAA	0.589												
KIFAP3	22920	broad.mit.edu	37	1	170024447	170024447	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:170024447delT	uc001ggv.2	-	2	434	c.163delA	c.(163-165)ATCfs	p.I55fs	KIFAP3_uc010ply.1_5'UTR|KIFAP3_uc001ggw.1_Intron	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	55					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAACTTACATTTTTTGACAT	0.333												
RNASEL	6041	broad.mit.edu	37	1	182545526	182545527	+	Splice_Site	INS	-	-	AA			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:182545526_182545527insAA	uc001gpj.1	-	5	2073	c.1906_splice	c.e5-1	p.I636_splice	RNASEL_uc009wxz.1_Splice_Site_p.I636_splice	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L						mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5						TTCATTAATCTAAAAAAACAAA	0.267									Hereditary_Prostate_Cancer			
LEMD1	93273	broad.mit.edu	37	1	205388453	205388453	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:205388453delT	uc001hcj.1	-	3	212	c.110delA	c.(109-111)AAGfs	p.K37fs	LEMD1_uc001hci.1_Frame_Shift_Del_p.K37fs|LEMD1_uc001hck.1_RNA|LEMD1_uc001hcl.1_Intron|LEMD1_uc001hcm.1_Intron|LEMD1_uc001hcn.1_Intron			Q68G75	LEMD1_HUMAN	RecName: Full=LEM domain-containing protein 1;          Short=LEMP-1; AltName: Full=Cancer/testis antigen 50;          Short=CT50;	37	LEM.					integral to membrane|nuclear envelope					0	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CTGTACTAACTTTTTTTCATA	0.433												
OR2W5	441932	broad.mit.edu	37	1	247654684	247654684	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:247654684delG	uc001icz.1	+	1	255	c.255delG	c.(253-255)CTGfs	p.L85fs		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTGGAACCTGGGGGGTCCAG	0.532												
ZNF248	57209	broad.mit.edu	37	10	38121593	38121593	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:38121593delA	uc001izd.1	-	6	1189	c.690delT	c.(688-690)TTTfs	p.F230fs	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Frame_Shift_Del_p.F230fs	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTTATTTGTAAAAAATGCTG	0.363												
CC2D2B	387707	broad.mit.edu	37	10	97779061	97779061	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:97779061delA	uc001kll.2	+	7	823	c.624delA	c.(622-624)TTAfs	p.L208fs	uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Frame_Shift_Del_p.L208fs|uc009xvb.1_RNA	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B isoform	208										ovary(1)	1		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TTTGTCCCTTAAAAAGTGTAG	0.313												
SLC18A2	6571	broad.mit.edu	37	10	119014792	119014792	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:119014792delC	uc001ldd.1	+	7	736	c.705delC	c.(703-705)GGCfs	p.G235fs	SLC18A2_uc009xyy.1_Frame_Shift_Del_p.G32fs	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	235	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CTGCAGTGGGCCCCCCCTTCG	0.572												
TUBGCP2	10844	broad.mit.edu	37	10	135093332	135093332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:135093332delG	uc001lmg.1	-	18	3004	c.2647delC	c.(2647-2649)CAAfs	p.Q883fs	ADAM8_uc010quz.1_5'Flank|ADAM8_uc009ybi.2_5'Flank|ADAM8_uc010qva.1_5'Flank|ADAM8_uc009ybj.1_5'Flank|TUBGCP2_uc001lmf.1_Frame_Shift_Del_p.Q476fs|TUBGCP2_uc010qvc.1_Frame_Shift_Del_p.Q911fs|TUBGCP2_uc009ybk.1_Frame_Shift_Del_p.Q906fs|TUBGCP2_uc010qvd.1_Frame_Shift_Del_p.Q753fs|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	883					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ACAGGCACTTGGGGGGTGGCC	0.657												
PDGFD	80310	broad.mit.edu	37	11	103814312	103814312	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:103814312delT	uc001phq.2	-	5	1012	c.640delA	c.(640-642)ATTfs	p.I214fs	PDGFD_uc001php.2_Frame_Shift_Del_p.I208fs	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	214					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		AATTCTGCAATTTTTTTGTCC	0.438												
DENND5B	160518	broad.mit.edu	37	12	31604972	31604973	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:31604972_31604973insA	uc001rki.1	-	5	1716_1717	c.1530_1531insT	c.(1528-1533)TTTACAfs	p.F510fs	DENND5B_uc001rkh.1_Frame_Shift_Ins_p.F545fs|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Frame_Shift_Ins_p.F532fs|DENND5B_uc001rkk.1_Frame_Shift_Ins_p.F432fs	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	510_511	dDENN.					integral to membrane				ovary(1)|central_nervous_system(1)	2						AACATCTGTGTAAAACGGTTAG	0.450												
WDR66	144406	broad.mit.edu	37	12	122386901	122386901	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:122386901delT	uc009zxk.2	+	8	1345	c.1203delT	c.(1201-1203)ACTfs	p.T401fs		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	401	WD 3.						calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ACTACGTTACTTTTAACCCAA	0.239												
ARL6IP4	51329	broad.mit.edu	37	12	123464969	123464970	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:123464969_123464970delGC	uc001ued.2	+	1	90_91	c.35_36delGC	c.(34-36)GGCfs	p.G12fs	ARL6IP4_uc001uec.2_Frame_Shift_Del_p.G12fs|ARL6IP4_uc001uee.2_Frame_Shift_Del_p.G12fs|ARL6IP4_uc001uef.2_Frame_Shift_Del_p.G12fs|ARL6IP4_uc001ueg.2_RNA|ARL6IP4_uc009zxt.2_5'Flank|ARL6IP4_uc001ueh.2_5'Flank|ARL6IP4_uc001uei.2_5'Flank	NM_018694	NP_061164	Q66PJ3	AR6P4_HUMAN	SRp25 nuclear protein isoform 1	12					RNA splicing	nucleus					0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)		GAGGAGGGCGGCGCGCGCGAGG	0.713												
NOC4L	79050	broad.mit.edu	37	12	132632428	132632428	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:132632428delC	uc001ujz.1	+	6	648	c.607delC	c.(607-609)CCCfs	p.P203fs		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	203					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TCCGCAGGTGCCCCCCGCCTT	0.682												
ZC3H13	23091	broad.mit.edu	37	13	46543661	46543661	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:46543661delT	uc010tfw.1	-	13	3024	c.3018delA	c.(3016-3018)AAAfs	p.K1006fs	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Del_p.K1006fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.K1006fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1006	Lys-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATTTTTTACGTTTTTTTTCAA	0.373												
SLITRK1	114798	broad.mit.edu	37	13	84455642	84455642	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:84455642delT	uc001vlk.2	-	1	887	c.1delA	c.(1-3)ATGfs	p.M1fs		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	1						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAAAGCAGCATTTTTAAAGCG	0.458												
C14orf43	91748	broad.mit.edu	37	14	74205773	74205773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:74205773delG	uc001xot.2	-	2	1722	c.939delC	c.(937-939)CCCfs	p.P313fs	C14orf43_uc001xou.2_Frame_Shift_Del_p.P313fs|C14orf43_uc010tud.1_Frame_Shift_Del_p.P313fs|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	313	Pro-rich.				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)		TATCTGGGTTGGGGGGGAAGG	0.662												
KIAA1409	57578	broad.mit.edu	37	14	94121610	94121610	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:94121610delG	uc001ybv.1	+	37	6048	c.5965delG	c.(5965-5967)GGGfs	p.G1989fs	KIAA1409_uc001ybs.1_Frame_Shift_Del_p.G1967fs	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2144						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)		TTTACCAGCAGGGGGTGCTAT	0.423												
PARP16	54956	broad.mit.edu	37	15	65578609	65578610	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:65578609_65578610delAC	uc002aoo.2	-	1	409_410	c.155_156delGT	c.(154-156)TGTfs	p.C52fs	PARP16_uc002aop.2_Frame_Shift_Del_p.C52fs|PARP16_uc002aoq.2_Frame_Shift_Del_p.C52fs	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	52						integral to membrane	NAD+ ADP-ribosyltransferase activity			lung(2)	2						CAAAGTCCTTACAGTCGCCGCG	0.663												
AKAP13	11214	broad.mit.edu	37	15	86123175	86123177	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr15:86123175_86123177delGAA	uc002blv.1	+	7	2046_2048	c.1876_1878delGAA	c.(1876-1878)GAAdel	p.E627del	AKAP13_uc002blt.1_In_Frame_Del_p.E627del|AKAP13_uc002blu.1_In_Frame_Del_p.E627del|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	627					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						TCTTGGGCTGGAAGAAGATGTAA	0.433												
KIAA0664	23277	broad.mit.edu	37	17	2601322	2601322	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:2601322delG	uc002fuy.1	-	10	1801	c.1715delC	c.(1714-1716)CCGfs	p.P572fs	KIAA0664_uc002fux.1_Frame_Shift_Del_p.P504fs|KIAA0664_uc010ckc.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	572							binding			breast(2)	2						GTTGAGGTCCGGGGGGAAGGT	0.692												
SEZ6	124925	broad.mit.edu	37	17	27284223	27284224	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:27284223_27284224insG	uc002hdp.2	-	13	2725_2726	c.2531_2532insC	c.(2530-2532)CCTfs	p.P844fs	SEZ6_uc010crx.1_Frame_Shift_Ins_p.P39fs|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Frame_Shift_Ins_p.P844fs|SEZ6_uc002hdq.1_Frame_Shift_Ins_p.P719fs	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	844	Extracellular (Potential).|Sushi 5.					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CACCATTCTCAGGGGCACTGAG	0.589												
RPS6KB1	6198	broad.mit.edu	37	17	58022829	58022829	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:58022829delA	uc002ixy.2	+	14	1393	c.1290delA	c.(1288-1290)CCAfs	p.P430fs	RPS6KB1_uc010ddj.1_Frame_Shift_Del_p.P430fs|RPS6KB1_uc010wom.1_Frame_Shift_Del_p.P377fs|RPS6KB1_uc010won.1_Frame_Shift_Del_p.P407fs|RPS6KB1_uc010woo.1_Frame_Shift_Del_p.P365fs|RPS6KB1_uc002ixz.2_RNA	NM_003161	NP_003152	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	430	Autoinhibitory domain.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			large_intestine(1)	1	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			CCTTTGAACCAAAAATCCGAT	0.368												
PPM1D	8493	broad.mit.edu	37	17	58740439	58740439	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:58740439delT	uc002iyt.1	+	6	1566	c.1344delT	c.(1342-1344)AATfs	p.N448fs	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	448					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TCTCAGAGAATTTTTTAGAGG	0.448											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)
TEX2	55852	broad.mit.edu	37	17	62272340	62272340	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:62272340delT	uc002jec.2	-	3	1933	c.1760delA	c.(1759-1761)AATfs	p.N587fs	TEX2_uc002jed.2_Frame_Shift_Del_p.N587fs|TEX2_uc002jee.2_Frame_Shift_Del_p.N587fs	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	587					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCTGGATATATTTTTATTGGG	0.443												
DENND1C	79958	broad.mit.edu	37	19	6468936	6468936	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:6468936delC	uc002mfe.2	-	20	1528	c.1436delG	c.(1435-1437)GGCfs	p.G479fs	DENND1C_uc002mfb.2_Frame_Shift_Del_p.G29fs|DENND1C_uc002mfc.2_Frame_Shift_Del_p.G29fs|DENND1C_uc002mfd.2_Frame_Shift_Del_p.G29fs|DENND1C_uc010xje.1_Frame_Shift_Del_p.G435fs	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	479						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						CCTCAGAGAGCCCCCCCTCTG	0.627												
MAP2K7	5609	broad.mit.edu	37	19	7977071	7977073	+	In_Frame_Del	DEL	AAG	AAG	-	rs139511301	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:7977071_7977073delAAG	uc002mit.2	+	10	1182_1184	c.1117_1119delAAG	c.(1117-1119)AAGdel	p.K373del	MAP2K7_uc002miv.2_In_Frame_Del_p.K380del|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_In_Frame_Del_p.K380del|MAP2K7_uc010dvv.2_In_Frame_Del_p.K248del	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	373	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	AAAGTATAATAAGCTACTTGTGA	0.596												
CYP4F22	126410	broad.mit.edu	37	19	15648181	15648181	+	Frame_Shift_Del	DEL	C	C	-	rs139235894		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:15648181delC	uc002nbh.3	+	5	544	c.377delC	c.(376-378)GCCfs	p.A126fs		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	126						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						GCTGCCATCGCCCCCAAGGAT	0.408												
ZNF473	25888	broad.mit.edu	37	19	50548684	50548684	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:50548684delT	uc002prn.2	+	5	1221	c.984delT	c.(982-984)GCTfs	p.A328fs	ZNF473_uc002prm.2_Frame_Shift_Del_p.A328fs|ZNF473_uc010ybo.1_Frame_Shift_Del_p.A316fs	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	328	Interaction with SLBP/pre-mRNA complex.|C2H2-type 3.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GCGGCAAGGCTTTTACCCGGA	0.498												
ZNF530	348327	broad.mit.edu	37	19	58118568	58118568	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:58118568delA	uc002qpk.2	+	3	1895	c.1675delA	c.(1675-1677)AAAfs	p.K559fs	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	559	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTTACCCGCAAAAATCACCT	0.448												
IWS1	55677	broad.mit.edu	37	2	128238676	128238676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:128238676delT	uc002ton.2	-	14	2707	c.2404delA	c.(2404-2406)AGCfs	p.S802fs		NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	802					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GCAGATCTGCTTTTTTTCCTT	0.423												
HNMT	3176	broad.mit.edu	37	2	138758556	138758558	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:138758556_138758558delGTT	uc002tvc.2	+	4	407_409	c.259_261delGTT	c.(259-261)GTTdel	p.V88del	HNMT_uc002tvf.2_In_Frame_Del_p.V88del	NM_006895	NP_008826	P50135	HNMT_HUMAN	histamine N-methyltransferase isoform 1	88					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	CAACAATGAAGTTGTTGAGCCAA	0.399												
BAZ2B	29994	broad.mit.edu	37	2	160335159	160335161	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:160335159_160335161delAGA	uc002uao.2	-	3	422_424	c.70_72delTCT	c.(70-72)TCTdel	p.S24del	BAZ2B_uc002uap.2_In_Frame_Del_p.S24del|BAZ2B_uc002uas.1_In_Frame_Del_p.S24del|BAZ2B_uc002uau.1_In_Frame_Del_p.S24del|BAZ2B_uc002uat.3_In_Frame_Del_p.S24del|BAZ2B_uc010fop.1_In_Frame_Del_p.S24del	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CTGAAGCCACAGAAGGTGTCGAA	0.429												
C20orf151	140893	broad.mit.edu	37	20	60989485	60989485	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:60989485delG	uc002ycw.1	-	10	1079	c.922delC	c.(922-924)CTGfs	p.L308fs		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	hypothetical protein LOC140893	308											0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			GCAGGGGCCAGGGGGCTGCTG	0.697												
SCUBE1	80274	broad.mit.edu	37	22	43634962	43634963	+	Splice_Site	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:43634962_43634963insG	uc003bdt.1	-	7	816	c.728_splice	c.e7-1	p.E243_splice	SCUBE1_uc003bdu.1_Intron	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				CGCACGTCTCTGGGGAGGGAAA	0.485												
GMPS	8833	broad.mit.edu	37	3	155633847	155633849	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:155633847_155633849delGAG	uc003faq.2	+	9	1413_1415	c.1078_1080delGAG	c.(1078-1080)GAGdel	p.E361del	GMPS_uc011bom.1_In_Frame_Del_p.E262del	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	361					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTGAAACCAGAGGAGGTTTTCC	0.379			T	MLL	AML							
SERPINI1	5274	broad.mit.edu	37	3	167507159	167507159	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:167507159delA	uc003ffa.3	+	2	441	c.243delA	c.(241-243)CTAfs	p.L81fs	SERPINI1_uc003ffb.3_Frame_Shift_Del_p.L81fs	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN	neuroserpin precursor	81					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(1)	1						ATGACAGCCTAAAAAATGGTA	0.388												
GP5	2814	broad.mit.edu	37	3	194118899	194118899	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:194118899delC	uc003ftv.1	-	2	144	c.113delG	c.(112-114)GGCfs	p.G38fs		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	38	LRRNT.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGCCACGTCGCCCCCCGAGCA	0.692												
BOD1L	259282	broad.mit.edu	37	4	13610188	13610189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:13610188_13610189insT	uc003gmz.1	-	8	1824_1825	c.1707_1708insA	c.(1705-1710)AAAGTAfs	p.K569fs	BOD1L_uc010idr.1_5'UTR	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	569_570	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						CTTAAGGCTACTTTTTTTTCTA	0.366												
CLGN	1047	broad.mit.edu	37	4	141327187	141327188	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:141327187_141327188delCT	uc011chi.1	-	6	545_546	c.327_328delAG	c.(325-330)AGAGGAfs	p.R109fs	CLGN_uc003iii.2_Frame_Shift_Del_p.R109fs	NM_001130675	NP_001124147	O14967	CLGN_HUMAN	calmegin precursor	109_110	Lumenal (Potential).				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			ovary(2)|skin(1)	3	all_hematologic(180;0.162)					AATACCAGTCCTCTGTCACCAG	0.337												
IRF2	3660	broad.mit.edu	37	4	185340707	185340708	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:185340707_185340708insA	uc003iwf.3	-	3	302_303	c.102_103insT	c.(100-105)TTTCAGfs	p.F34fs		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	34_35	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGGGATCTGAAAAATCTTCT	0.426												
NR2F1	7025	broad.mit.edu	37	5	92921054	92921056	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:92921054_92921056delTTC	uc003kkj.2	+	1	2012_2014	c.325_327delTTC	c.(325-327)TTCdel	p.F110del		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	110	Nuclear receptor.				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTGCAAAAGTTTCTTCAAGAGGA	0.596												
SCAND3	114821	broad.mit.edu	37	6	28554433	28554434	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:28554433_28554434insC	uc003nlo.2	-	1	679_680	c.61_62insG	c.(61-63)GAGfs	p.E21fs	uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	21					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTTGATAATCTCCCCTTGTTCT	0.505												
PRRT1	80863	broad.mit.edu	37	6	32118218	32118218	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:32118218delC	uc003nzt.2	-	2	601	c.485delG	c.(484-486)GGCfs	p.G162fs	PRRT1_uc003nzs.2_Frame_Shift_Del_p.G203fs|PRRT1_uc003nzu.2_Frame_Shift_Del_p.G54fs	NM_030651	NP_085154	Q99946	PRRT1_HUMAN	NG5 protein	162					response to biotic stimulus	integral to membrane				breast(1)	1						CGCTACGTAGCCCCCCAGCGG	0.617												
C7orf50	84310	broad.mit.edu	37	7	1037311	1037311	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:1037311delG	uc003sju.2	-	5	605	c.535delC	c.(535-537)CTGfs	p.L179fs	C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Frame_Shift_Del_p.L179fs|C7orf50_uc011jvu.1_Frame_Shift_Del_p.L179fs	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	hypothetical protein LOC84310	179							protein binding				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CTCCCCGGCAGGGGGGGATCA	0.721												
CYP51A1	1595	broad.mit.edu	37	7	91752448	91752450	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:91752448_91752450delAAG	uc003ulm.3	-	7	1232_1234	c.1070_1072delCTT	c.(1069-1074)CCTTTA>CTA	p.P357del	CYP51A1_uc011khn.1_In_Frame_Del_p.P252del|CYP51A1_uc003uln.3_In_Frame_Del_p.P294del	NM_000786	NP_000777	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A,	351					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	TCATAAGTTAAAGGAGGCAGATT	0.365												
WNT2	7472	broad.mit.edu	37	7	116937798	116937798	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:116937798delC	uc003viz.2	-	4	1021	c.721delG	c.(721-723)GCCfs	p.A241fs	WNT2_uc003vja.2_Frame_Shift_Del_p.A145fs	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	241					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACCTGGATGGCCCCATTGTAC	0.522												
RBM28	55131	broad.mit.edu	37	7	127973348	127973349	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:127973348_127973349insA	uc003vmp.2	-	9	1129_1130	c.1014_1015insT	c.(1012-1017)TTTATCfs	p.F338fs	RBM28_uc003vmo.2_5'UTR|RBM28_uc011koj.1_Frame_Shift_Ins_p.F197fs|RBM28_uc011kok.1_Frame_Shift_Ins_p.F285fs	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	338_339	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						ACATACCTGATAAAAACAGTTT	0.386												
PRKDC	5591	broad.mit.edu	37	8	48743276	48743276	+	Frame_Shift_Del	DEL	T	T	-	rs67313876		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:48743276delT	uc003xqi.2	-	62	8344	c.8287delA	c.(8287-8289)ATGfs	p.M2763fs	PRKDC_uc003xqj.2_Frame_Shift_Del_p.M2763fs|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2763	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCCTGCTTCATTTTTAACTCA	0.483								NHEJ				
ARAF	369	broad.mit.edu	37	X	47426121	47426126	+	In_Frame_Del	DEL	CCACTC	CCACTC	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:47426121_47426126delCCACTC	uc011mlq.1	+	7	774_779	c.641_646delCCACTC	c.(640-648)TCCACTCCC>TCC	p.TP215del	ARAF_uc011mln.1_Intron|ARAF_uc011mlo.1_In_Frame_Del_p.TP81del|ARAF_uc011mlp.1_In_Frame_Del_p.TP215del|ARAF_uc004dic.1_5'UTR	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	215_216					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	CGCTCCACGTCCACTCCCAACGTCCA	0.660												
KDM5C	8242	broad.mit.edu	37	X	53222309	53222309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:53222309delG	uc004drz.2	-	26	5056	c.4523delC	c.(4522-4524)CCTfs	p.P1508fs	KDM5C_uc011moc.1_Intron|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Frame_Shift_Del_p.P1507fs|uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	1508					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						GATGGGTGCAGGGGGGCCCTC	0.662			N|F|S		clear cell renal carcinoma							
MAGEE2	139599	broad.mit.edu	37	X	75004754	75004754	+	Frame_Shift_Del	DEL	G	G	-	rs61732441	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:75004754delG	uc004ecj.1	-	1	318	c.133delC	c.(133-135)CAGfs	p.Q45fs		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	45										ovary(1)|skin(1)	2						TGAGGGCACTGGGGGGCATCA	0.587												
SASH3	54440	broad.mit.edu	37	X	128922006	128922006	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:128922006delC	uc011mun.1	+	2	295	c.113delC	c.(112-114)TCCfs	p.S38fs	SASH3_uc004euu.2_Frame_Shift_Del_p.S38fs|SASH3_uc011muo.1_5'UTR	NM_018990	NP_061863	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	38										ovary(2)|pancreas(1)	3						AAACCCAGCTCCCCCGTGGTG	0.567												
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
PHACTR4	65979	broad.mit.edu	37	1	28800273	28800273	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:28800272_28800272TC>T	uc001bpy.3	+	5	1295	c.1060_1060TC>T	c.(1060-1062)tccfs	p.S354fs	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Frame_Shift_Del_p.S344fs|PHACTR4_uc001bpx.3_Frame_Shift_Del_p.S328fs	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACT	0.512												
EIF2C1	26523	broad.mit.edu	37	1	36354045	36354046	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:36354044_36354045G>GC	uc001bzl.3	+	1	255_256	c.42_43G>GC	c.(40-45)ctgcccfs	p.L14fs	EIF2C1_uc001bzk.3_5'UTR	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	14					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCGCTTACCTGCCCCCCCTGCA	0.569												
THRAP3	9967	broad.mit.edu	37	1	36762332	36762333	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:36762331_36762332G>GA	uc001cae.4	+	8	2487_2488	c.2263_2264G>GA	c.(2263-2265)gaafs	p.E755fs	THRAP3_uc001caf.4_Frame_Shift_Ins_p.E755fs	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	755					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGTCAGCTGAAAAAACAGAG	0.431			T	USP6	aneurysmal bone cysts							
FHL3	2275	broad.mit.edu	37	1	38465063	38465064	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:38465062_38465063GCA>G	uc001cck.3	-	1	201_202	c.22_23TGC>C	c.(22-24)gcafs	p.A8fs	FHL3_uc001ccm.3_Intron|FHL3_uc009vvl.2_Frame_Shift_Del_p.A8fs	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	8					muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTTGCATTTTGCACAGTCAAAT	0.550												
ZNF642	339559	broad.mit.edu	37	1	40945114	40945114	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:40945113_40945113AG>A	uc010ojk.2	+	1	374	c.80_80AG>A	c.(79-81)gagfs	p.E27fs	ZNF642_uc001cfo.3_Frame_Shift_Del_p.E27fs|ZNF642_uc009vwb.3_Frame_Shift_Del_p.E27fs	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	27	SCAN box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			AAGGCCGTGGAGGGGGCGCCC	0.547												
IVNS1ABP	10625	broad.mit.edu	37	1	185277957	185277958	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:185277956_185277957C>CT	uc001grl.3	-	4	955_956	c.332_333G>AG	c.(331-333)aagfs	p.K111fs	IVNS1ABP_uc001grj.3_5'Flank|IVNS1ABP_uc009wyj.3_5'UTR|IVNS1ABP_uc009wyk.3_Non-coding_Transcript	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA.	111				K -> E (in Ref. 1; CAA10029).	RNA splicing|interspecies interaction between organisms|response to virus|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CCATCTTCAGCTTTTTTGCTGC	0.302												
MIA3	375056	broad.mit.edu	37	1	222802633	222802634	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:222802632_222802633G>GT	uc001hnl.3	+	3	2079_2080	c.2070_2071G>GT	c.(2068-2073)gagtttfs	p.E690fs	MIA3_uc009xea.1_Frame_Shift_Ins_p.E526fs	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	690					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			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGGATGAAGAGTTTTTTCATCA	0.480												
KIF26B	55083	broad.mit.edu	37	1	245849479	245849479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:245849478_245849478TC>T	uc001ibf.1	+	11	3633	c.3193_3193TC>T	c.(3193-3195)tccfs	p.S1065fs	KIF26B_uc001ibg.1_Frame_Shift_Del_p.S683fs|KIF26B_uc001ibh.1_Frame_Shift_Del_p.S307fs	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1065					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCCATGGGCTCCCCCCGGCT	0.662												
OR2C3	81472	broad.mit.edu	37	1	247695356	247695356	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr1:247695355_247695355AC>A	uc021pmb.1	-	0	459	c.459_459GT>T	c.(457-459)ggtfs	p.G153fs	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Frame_Shift_Del_p.G153fs	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152V(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGGTGGTCAGACCCCCCAGCC	0.567												
ROCK2	9475	broad.mit.edu	37	2	11389837	11389838	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:11389836_11389837C>CA	uc002rbd.1	-	3	861_862	c.412_413G>TG	c.(412-414)tggfs	p.W138fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	138	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.W138fs*31(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTTTCTTCCCAAAAAAAGGCA	0.356												
SLC30A3	7781	broad.mit.edu	37	2	27478188	27478189	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:27478187_27478188T>TG	uc002rjk.3	-	7	1345_1346	c.1159_1160A>CA	c.(1159-1161)caafs	p.Q387fs	SLC30A3_uc002rjj.3_Frame_Shift_Ins_p.P232fs|SLC30A3_uc010ylh.2_Frame_Shift_Ins_p.Q382fs	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	387					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTCAGGCTTGGGGGGGTTCC	0.658												
CCDC142	84865	broad.mit.edu	37	2	74701702	74701702	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:74701701_74701701GA>G	uc002slr.3	-	8	2618	c.2225_2225TC>C	c.(2224-2226)tccfs	p.S742fs	MRPL53_uc002sln.3_5'Flank|CCDC142_uc002slo.3_Intron|CCDC142_uc002slq.3_Frame_Shift_Del_p.S735fs|CCDC142_uc002slp.2_3'UTR	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.	742										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TCCCAGGCAGGAAAAAAACGG	0.572												
EDAR	10913	broad.mit.edu	37	2	109545660	109545664	+	Frame_Shift_Del	DEL	AGGCA	AGGCA	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:109545659_109545663GAGGCA>G	uc010fjn.3	-	4	894_898	c.347_351TGCCTC>C	c.(346-351)tgcctcfs	p.C116fs	EDAR_uc010yws.2_Frame_Shift_Del_p.C116fs|EDAR_uc002teq.4_Frame_Shift_Del_p.C116fs	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	116					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	p.C116Y(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTTACCCAGGGAGGCAAGGGCCACA	0.600												
ANAPC1	64682	broad.mit.edu	37	2	112614258	112614259	+	Splice_Site	INS	-	-	T	rs4067742		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:112614257_112614258C>CT	uc002thi.3	-	13	1697	c.1450_splice	c.e13-1	p.K484_splice		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	484					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361												
IWS1	55677	broad.mit.edu	37	2	128252502	128252502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:128252501_128252501CT>C	uc002ton.2	-	7	2049	c.1746_1746AG>G	c.(1744-1746)aagfs	p.K582fs	IWS1_uc010yzl.1_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	582					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCAGTGCTGGCTTTTTTTGAT	0.264												
IWS1	55677	broad.mit.edu	37	2	128262790	128262790	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:128262789_128262789TG>T	uc002ton.2	-	2	993	c.690_690CA>A	c.(688-690)ccafs	p.P230fs	IWS1_uc010yzl.1_Non-coding_Transcript|IWS1_uc010fma.2_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	230	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding	p.P230fs*160(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CCTGGTGCCTTGGGGGTTCCT	0.522												
FAM123C	205147	broad.mit.edu	37	2	131520225	131520225	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:131520224_131520224TG>T	uc021voy.1	+	0	579	c.579_579TG>T	c.(577-579)cctfs	p.P193fs	FAM123C_uc002trw.2_Frame_Shift_Del_p.P193fs|FAM123C_uc010fmv.2_Frame_Shift_Del_p.P193fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.P193fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.P193fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.P193fs	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	193										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CGTCAGACCCTGGGGGGCGGC	0.667												
POTEE	445582	broad.mit.edu	37	2	132021451	132021451	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:132021450_132021450GC>G	uc002tsn.2	+	14	2474	c.2422_2422GC>G	c.(2422-2424)gccfs	p.A808fs	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Frame_Shift_Del_p.A408fs|POTEE_uc002tsl.2_Frame_Shift_Del_p.A390fs|POTEE_uc010fmy.1_Frame_Shift_Del_p.A272fs	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	808	Actin-like.						ATP binding										GCTGACCGAGGCCCCCCTGAA	0.597												
GPR39	2863	broad.mit.edu	37	2	133402811	133402811	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:133402810_133402810GT>G	uc002ttl.3	+	1	1462	c.993_993GT>G	c.(991-993)acgfs	p.T331fs	LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	331						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCGGAGACGTTTTTCTACC	0.607												
MGAT5	4249	broad.mit.edu	37	2	135028124	135028124	+	Splice_Site	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:135028123_135028123TA>T	uc002ttw.4	+	2	551	c.406_splice	c.e2+2	p.D136_splice		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	136					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		ATGTGGCAGGTAAAAATAGCA	0.443												
XIRP2	129446	broad.mit.edu	37	2	168099958	168099958	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:168099957_168099957TG>T	uc002udx.3	+	8	2144	c.2055_2055TG>T	c.(2053-2055)actfs	p.T685fs	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Del_p.T510fs|XIRP2_uc010fpq.3_Frame_Shift_Del_p.T463fs|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATG	0.418												
XIRP2	129446	broad.mit.edu	37	2	168103737	168103738	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:168103736_168103737T>TA	uc002udx.3	+	8	5923_5924	c.5834_5835T>TA	c.(5833-5835)atafs	p.I1945fs	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Ins_p.I1770fs|XIRP2_uc010fpq.3_Frame_Shift_Ins_p.I1723fs|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1770					actin cytoskeleton organization	cell junction	actin binding	p.V1944I(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAGGTGTAATAAAAAAAGATG	0.391												
HOXD8	3234	broad.mit.edu	37	2	176995424	176995424	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:176995423_176995423CT>C	uc002uko.3	+	0	956	c.329_329CT>C	c.(328-330)cctfs	p.P110fs	AX747372_uc002ukl.1_5'Flank|AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Intron|HOXD8_uc002ukp.3_Frame_Shift_Del_p.P110fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	110	Poly-Pro.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCCGccccccctcctcctccg	0.726												
TTN	7273	broad.mit.edu	37	2	179648873	179648873	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:179648872_179648872CT>C	uc021vsy.1	-	15	2925	c.2700_2700AG>G	c.(2698-2700)aagfs	p.K900fs	TTN_uc021vsz.1_Frame_Shift_Del_p.K854fs|TTN_uc021vta.1_Frame_Shift_Del_p.K854fs|TTN_uc021vtb.1_Frame_Shift_Del_p.K854fs|TTN_uc002unb.2_Frame_Shift_Del_p.K900fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	900							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCCTACTTCCTTTTTCACCT	0.547												
CCDC150	284992	broad.mit.edu	37	2	197511222	197511222	+	Frame_Shift_Del	DEL	A	A	-	rs34248242		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:197511221_197511221GA>G	uc002utp.1	+	1	304	c.169_169GA>G	c.(169-171)gaafs	p.E57fs	CCDC150_uc002uto.1_Frame_Shift_Del_p.E57fs|CCDC150_uc010zgq.1_Intron|CCDC150_uc010zgr.1_Non-coding_Transcript|CCDC150_uc010zgs.1_5'UTR	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	57										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGATTTTGGTGAAAAAAGGTA	0.373												
CRYGD	1421	broad.mit.edu	37	2	209025577	209025577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:209025576_209025576AC>A	uc002vcq.4	-	2	494	c.477_477GT>T	c.(475-477)ggtfs	p.G159fs	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	159	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TGGCATCTGCACCCCCCCAGT	0.527												
ABCB6	10058	broad.mit.edu	37	2	220081103	220081103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:220081102_220081102AC>A	uc002vkc.2	-	3	2733	c.954_954GT>T	c.(952-954)ggtfs	p.G318fs	ABCB6_uc010fwe.2_Frame_Shift_Del_p.G272fs|ABCB6_uc010zku.1_Non-coding_Transcript	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	318	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	p.G318fs*9(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCAGTGCCACCCCCCTGGA	0.567												
NEU2	4759	broad.mit.edu	37	2	233899664	233899664	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr2:233899663_233899663TC>T	uc010zmn.2	+	1	1039	c.1039_1039TC>T	c.(1039-1041)tccfs	p.S347fs		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	347							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCCTGATGGGTCCCCCTTGTT	0.592												
CCR8	1237	broad.mit.edu	37	3	39374508	39374508	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:39374507_39374507CA>C	uc010hhr.2	+	1	823	c.685_685CA>C	c.(685-687)caafs	p.Q229fs	CCR8_uc003cjm.2_Frame_Shift_Del_p.Q146fs|CCR8_uc021wwe.1_Frame_Shift_Del_p.Q229fs	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	229					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		GAAGAGGTGTCAAAACCACAA	0.423												
EIF4E3	317649	broad.mit.edu	37	3	71739264	71739266	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:71739263_71739265GGAC>G	uc003dov.4	-	5	532_534	c.524_526GTCC>C	c.(523-528)gtccaa>gCaa	p.175_176VQ>A	EIF4E3_uc011bgc.2_In_Frame_Del_p.69_70VQ>A|EIF4E3_uc003dox.3_In_Frame_Del_p.69_70VQ>A|EIF4E3_uc011bgd.2_In_Frame_Del_p.69_70VQ>A|EIF4E3_uc010hoc.3_In_Frame_Del_p.69_70VQ>A	NM_001134651	NP_775495	Q8N5X7	IF4E3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 3 (EIF4E3), transcript variant 1, mRNA.	175					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		TTCCAGACTTGGACGACGTCTTC	0.394												
GPR128	84873	broad.mit.edu	37	3	100354673	100354673	+	Splice_Site	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:100354672_100354672TA>T	uc003duc.3	+	5	865	c.597_splice	c.e5+2	p.E199_splice	GPR128_uc011bhc.2_Splice_Site	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	199					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCACCTGAGGTAAAACTCACA	0.368												
ALCAM	214	broad.mit.edu	37	3	105250904	105250904	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:105250903_105250903TA>T	uc003dvx.3	+	3	1148	c.452_452TA>T	c.(451-453)ctafs	p.L151fs	ALCAM_uc003dvw.2_Frame_Shift_Del_p.L151fs|ALCAM_uc003dvy.3_Frame_Shift_Del_p.L151fs|ALCAM_uc011bhh.1_Frame_Shift_Del_p.L100fs|ALCAM_uc010hpp.3_5'Flank	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	151	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L151L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ACAGAGCAGCTAAAAAAGGTA	0.338												
SI	6476	broad.mit.edu	37	3	164781250	164781250	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:164781249_164781249TA>T	uc003fei.3	-	7	951	c.888_888TA>A	c.(886-888)ttafs	p.L296fs		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	296	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.L296fs*4(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCTATTCATTAAAAAAACAC	0.259										HNSCC(35;0.089)		
MUC4	4585	broad.mit.edu	37	3	195488372	195488372	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr3:195488371_195488371GA>G	uc021xjp.1	-	14	14754	c.14598_14598TC>C	c.(14596-14598)ttcfs	p.F4866fs	MUC4_uc003fuz.3_Frame_Shift_Del_p.F464fs|MUC4_uc003fva.3_Frame_Shift_Del_p.F346fs|MUC4_uc003fvb.3_Frame_Shift_Del_p.F382fs|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Frame_Shift_Del_p.F382fs|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Frame_Shift_Del_p.F375fs|MUC4_uc021xjn.1_Frame_Shift_Del_p.F555fs|MUC4_uc021xjo.1_Frame_Shift_Del_p.F346fs|MUC4_uc021xjg.1_Frame_Shift_Del_p.F346fs|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Frame_Shift_Del_p.F430fs|MUC4_uc021xjj.1_Frame_Shift_Del_p.F430fs|MUC4_uc021xjk.1_Frame_Shift_Del_p.F607fs|MUC4_uc021xjl.1_Frame_Shift_Del_p.F346fs|MUC4_uc003fvo.3_Frame_Shift_Del_p.F630fs|MUC4_uc003fvp.3_Frame_Shift_Del_p.F579fs	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1623					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTCCAAAGTGGAAAAGCATCT	0.592												
GRK4	2868	broad.mit.edu	37	4	3015460	3015460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:3015459_3015459CA>C	uc003ggn.1	+	7	1100	c.645_645CA>C	c.(643-645)tgcfs	p.C215fs	GRK4_uc003ggo.1_Frame_Shift_Del_p.C215fs|GRK4_uc003ggp.1_Frame_Shift_Del_p.C183fs|GRK4_uc003ggq.1_Frame_Shift_Del_p.C183fs	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	215	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTATGCCTGCAAAAAGCTAC	0.388												
CNGA1	1259	broad.mit.edu	37	4	47939172	47939172	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:47939171_47939171GT>G	uc003gxu.3	-	9	1688	c.1547_1547AC>C	c.(1546-1548)acafs	p.T516fs	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Frame_Shift_Del_p.T447fs	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	447					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTCATCAACTGTTTTTTTGTT	0.328												
PTPN13	5783	broad.mit.edu	37	4	87691300	87691301	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:87691299_87691300CTT>C	uc003hpz.3	+	29	5230_5231	c.4750_4751CTT>C	c.(4750-4752)cttfs	p.L1584fs	PTPN13_uc003hpy.3_Frame_Shift_Del_p.L1589fs|PTPN13_uc003hqa.3_Frame_Shift_Del_p.L1565fs|PTPN13_uc003hqb.3_Frame_Shift_Del_p.L1393fs|PTPN13_uc003hqc.1_5'UTR	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	1584	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTATTCTTGCTTCTCTGCAGA	0.416												
INTS12	57117	broad.mit.edu	37	4	106621122	106621122	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:106621121_106621121CA>C	uc003hxw.3	-	2	300	c.42_42TG>G	c.(40-42)ttgfs	p.L14fs	INTS12_uc010ilr.3_Frame_Shift_Del_p.L14fs	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	14					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		CTAGTGCTTTCAAAAAAATGG	0.388												
ADAM29	11086	broad.mit.edu	37	4	175898771	175898772	+	Frame_Shift_Ins	INS	-	-	A	rs34732497		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:175898770_175898771T>TA	uc003iuc.3	+	4	2764_2765	c.2094_2095T>TA	c.(2092-2097)tgtaaafs	p.C698fs	ADAM29_uc003iud.3_Frame_Shift_Ins_p.C698fs|ADAM29_uc010irr.3_Frame_Shift_Ins_p.C698fs|ADAM29_uc011cki.2_Frame_Shift_Ins_p.C698fs|ADAM29_uc021xuo.1_Frame_Shift_Ins_p.C698fs	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	698					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATCGACTTTGTAAAAAAAGTAA	0.351												
IRF2	3660	broad.mit.edu	37	4	185340708	185340709	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr4:185340707_185340708G>GA	uc003iwf.4	-	2	302_303	c.102_103C>TC	c.(100-105)tttcagfs	p.F34fs		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	34					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGGGATCTGAAAAATCTTCT	0.426												
OSMR	9180	broad.mit.edu	37	5	38923329	38923329	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:38923328_38923328GA>G	uc003jln.2	+	12	2244	c.1842_1842GA>G	c.(1840-1842)gagfs	p.E614fs	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	614	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GTTTATTAGAGAAAAAAACAG	0.368												
IPO11	51194	broad.mit.edu	37	5	61770245	61770245	+	Splice_Site	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:61770244_61770244GT>G	uc011cqr.2	+	8	959	c.829_splice	c.e8-1	p.G277_splice	IPO11_uc003jtc.3_Splice_Site_p.G237_splice	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	237						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTTTTCTAGGGTTTTTTACAT	0.274												
TMEM171	134285	broad.mit.edu	37	5	72424240	72424240	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:72424239_72424239AC>A	uc003kcm.2	+	2	867	c.663_663AC>A	c.(661-663)ccafs	p.P221fs	TMEM171_uc003kcn.3_Frame_Shift_Del_p.P221fs	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	Homo sapiens transmembrane protein 171 (TMEM171), transcript variant 1, mRNA.	221						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		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)		TAATATTTCCACCCCCTCCAC	0.403												
PPIP5K2	23262	broad.mit.edu	37	5	102537309	102537310	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:102537308_102537309C>CA	uc003kod.4	+	30	4224_4225	c.3705_3706C>CA	c.(3703-3708)cacaaafs	p.H1235fs	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Frame_Shift_Ins_p.H1214fs|PPIP5K2_uc003kof.3_Frame_Shift_Ins_p.H417fs	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	1235					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGCATGAACACAAAAAAAACAC	0.317												
SEMA6A	57556	broad.mit.edu	37	5	115782765	115782765	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:115782764_115782764TG>T	uc003krx.4	-	19	3398	c.2689_2689CA>A	c.(2689-2691)aaafs	p.K897fs	SEMA6A_uc010jck.3_Frame_Shift_Del_p.K880fs|SEMA6A_uc011cwe.2_Frame_Shift_Del_p.K259fs|SEMA6A_uc003krv.4_Frame_Shift_Del_p.K307fs|SEMA6A_uc003krw.4_Frame_Shift_Del_p.K357fs|SEMA6A_uc010jcj.3_Frame_Shift_Del_p.K424fs	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.Q897H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGG	0.607												
SEC24A	10802	broad.mit.edu	37	5	134059335	134059335	+	Frame_Shift_Del	DEL	T	T	-	rs143698448	by1000genomes	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:134059334_134059334AT>A	uc003kzs.3	+	21	3433	c.3141_3141AT>A	c.(3139-3141)ccafs	p.P1047fs	SEC24A_uc011cxu.2_Frame_Shift_Del_p.P811fs	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	1047					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCAGAGACCATTTTTCCCAA	0.373												
FAM13B	51306	broad.mit.edu	37	5	137284728	137284728	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:137284727_137284727GT>G	uc003lbz.2	-	16	2545	c.2011_2011AC>C	c.(2011-2013)ccafs	p.P671fs	FAM13B_uc003lcb.2_Frame_Shift_Del_p.P575fs|FAM13B_uc003lca.2_Frame_Shift_Del_p.P671fs	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	671					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TCTTTAGATGGTTTTTTCTCC	0.378												
FLT4	2324	broad.mit.edu	37	5	180058748	180058749	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr5:180058747_180058748C>CG	uc003mlz.4	-	1	168_169	c.89_90G>CG	c.(88-90)ccgfs	p.P30fs	FLT4_uc003mma.4_Frame_Shift_Ins_p.P30fs|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Frame_Shift_Ins_p.P30fs|FLT4_uc011dgz.1_Frame_Shift_Ins_p.P30fs|FLT4_uc011dha.1_Frame_Shift_Ins_p.P30fs	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	30	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.P30fs*3(3)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTTCAAGGTCGGGGGGGTCAT	0.634												
SCAND3	114821	broad.mit.edu	37	6	28554434	28554435	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:28554433_28554434T>TC	uc003nlo.3	-	0	679_680	c.61_62A>GA	c.(61-63)gagfs	p.E21fs	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	21					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTGATAATCTCCCCTTGTTCT	0.505												
SLC26A8	116369	broad.mit.edu	37	6	35912065	35912066	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:35912064_35912065A>AT	uc003olm.3	-	19	2636_2637	c.2525_2526T>AT	c.(2524-2526)aatfs	p.N842fs	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Frame_Shift_Ins_p.N424fs|SLC26A8_uc003oll.3_Frame_Shift_Ins_p.N737fs|SLC26A8_uc003oln.3_Frame_Shift_Ins_p.N842fs	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	842	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGGACTTACATTTTTTTGGCT	0.401												
FOXP4	116113	broad.mit.edu	37	6	41555186	41555187	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:41555185_41555186A>AC	uc003oql.3	+	6	1265_1266	c.807_808A>AC	c.(805-810)tcacccfs	p.S269fs	FOXP4_uc003oqm.3_Frame_Shift_Ins_p.S267fs|FOXP4_uc003oqn.3_Frame_Shift_Ins_p.S268fs	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	269					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAAGGTCTCACCCCCCCTCTC	0.678											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
HTR1E	3354	broad.mit.edu	37	6	87725847	87725847	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:87725846_87725846TC>T	uc003pli.3	+	1	1497	c.794_794TC>T	c.(793-795)atcfs	p.I265fs	HTR1E_uc021zcg.1_Frame_Shift_Del_p.I265fs	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTC	0.507												
SHPRH	257218	broad.mit.edu	37	6	146266724	146266724	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr6:146266723_146266723CT>C	uc003qlf.3	-	7	1771	c.1372_1372AG>G	c.(1372-1374)ggafs	p.G458fs	SHPRH_uc003qle.3_Frame_Shift_Del_p.G458fs|SHPRH_uc003qlg.1_Frame_Shift_Del_p.G14fs|SHPRH_uc003qlj.1_Frame_Shift_Del_p.G347fs	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	458	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.G458V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATGGACACTCCTTTTTTTCCA	0.328												
STEAP4	79689	broad.mit.edu	37	7	87912360	87912360	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:87912359_87912359AG>A	uc022agz.1	-	3	804	c.581_581CT>T	c.(580-582)ctgfs	p.L194fs	STEAP4_uc003ujs.3_Frame_Shift_Del_p.L194fs|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	194					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AAATAGCTGCAGGGGGTACTT	0.408												
EMID2	136227	broad.mit.edu	37	7	101183269	101183269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:101183268_101183268TC>T	uc010lhy.1	+	4	728	c.536_536TC>T	c.(535-537)ctcfs	p.L179fs	EMID2_uc003uyo.1_Frame_Shift_Del_p.L181fs	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	181						collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					GAGGACTTCCTCCCCGACGCC	0.682												
RBM28	55131	broad.mit.edu	37	7	127973349	127973350	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:127973348_127973349T>TA	uc003vmp.2	-	8	1129_1130	c.1014_1015A>TA	c.(1012-1017)tttatcfs	p.F338fs	RBM28_uc011koj.1_Frame_Shift_Ins_p.F197fs|RBM28_uc011kok.1_Frame_Shift_Ins_p.F285fs	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	338	RRM 3.				RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding	p.I339T(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACATACCTGATAAAAACAGTTT	0.386												
BRAF	673	broad.mit.edu	37	7	140482927	140482928	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:140482926_140482927A>AG	uc003vwc.4	-	9	1269_1270	c.1208_1209T>CT	c.(1207-1209)cctfs	p.P403fs		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	403					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAATGAGGCAGGGGGGGTAGC	0.431		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome			
ZNF746	155061	broad.mit.edu	37	7	149191320	149191320	+	Frame_Shift_Del	DEL	G	G	-	rs75141970		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:149191319_149191319CG>C	uc010lpi.2	-	1	571	c.300_300CG>G	c.(298-300)ccgfs	p.P100fs	ZNF746_uc003wfw.2_Frame_Shift_Del_p.P100fs	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	100	KRAB.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCTTGCTGCCCGGGGGCAGCC	0.667												
SSPO	23145	broad.mit.edu	37	7	149485459	149485459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr7:149485458_149485458TC>T	uc010lpk.3	+	26	3864	c.3864_3864TC>T	c.(3862-3864)tgtfs	p.C1288fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1288	TIL 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCCACGTGTCCCCCCACCT	0.647												
FZD3	7976	broad.mit.edu	37	8	28385159	28385160	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:28385158_28385159A>AT	uc003xgx.3	+	4	1410_1411	c.881_882A>AT	c.(880-882)tatfs	p.Y294fs	FZD3_uc010lvb.3_Frame_Shift_Ins_p.Y294fs	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	294					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATGATACTCTATTTTTTTACTA	0.421												
GPR124	25960	broad.mit.edu	37	8	37691605	37691605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:37691604_37691604TG>T	uc003xkj.3	+	10	1952	c.1566_1566TG>T	c.(1564-1566)attfs	p.I522fs	GPR124_uc010lvy.3_Frame_Shift_Del_p.I522fs	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	522					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			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGAGCGCATTGGGGGGGCCG	0.687												
PHF20L1	51105	broad.mit.edu	37	8	133836264	133836265	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:133836263_133836264G>GA	uc003ytt.3	+	12	1919_1920	c.1594_1595G>GA	c.(1594-1596)gaafs	p.E532fs	PHF20L1_uc003yts.3_Frame_Shift_Ins_p.E532fs|PHF20L1_uc011lja.2_Frame_Shift_Ins_p.E506fs|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	532	Lys-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATCGAAAACAGAAAAAAAAGTG	0.317												
ZNF16	7564	broad.mit.edu	37	8	146157244	146157244	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr8:146157243_146157243CT>C	uc003zet.3	-	3	1117	c.930_930AG>G	c.(928-930)aagfs	p.K310fs	ZNF16_uc003zeu.3_Frame_Shift_Del_p.K310fs	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		ACTTTTGGTGCTTTTTAAGGC	0.443												
RLN1	6013	broad.mit.edu	37	9	5335330	5335330	+	Frame_Shift_Del	DEL	T	T	-	rs149069258		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:5335329_5335329CT>C	uc003zjb.1	-	1	607	c.480_480AG>G	c.(478-480)aagfs	p.K160fs		NM_006911	NP_008842	P04808	REL1_HUMAN	Homo sapiens relaxin 1 (RLN1), mRNA.	160					female pregnancy|signal transduction	extracellular region	hormone activity			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		AGGGTCGTCTCTTTTTTTGAG	0.383												
FREM1	158326	broad.mit.edu	37	9	14769869	14769869	+	Splice_Site	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:14769868_14769868TA>T	uc003zlm.3	-	28	5876	c.5060_splice	c.e28-1	p.G1687_splice	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Splice_Site|FREM1_uc003zll.3_Splice_Site_p.G223_splice	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1687					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TAAATTCACCTAAAAAAAGAA	0.264												
GDA	9615	broad.mit.edu	37	9	74810422	74810422	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:74810421_74810421GT>G	uc004air.3	+	1	338	c.129_129GT>G	c.(127-129)gtgfs	p.V43fs	GDA_uc011lse.2_5'UTR|GDA_uc004aiq.3_Frame_Shift_Del_p.V43fs|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_5'UTR|GDA_uc004ais.3_Splice_Site_p.M1_splice|GDA_uc004ait.1_Splice_Site	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	43					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TAAAGATAGTGTTTTTAGAAG	0.313												
TLE1	7088	broad.mit.edu	37	9	84208132	84208132	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	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												
ZCCHC6	79670	broad.mit.edu	37	9	88923493	88923494	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:88923492_88923493A>AT	uc004aou.3	-	21	3827_3828	c.3689_3690T>AT	c.(3688-3690)aatfs	p.N1230fs	ZCCHC6_uc010mqe.3_Frame_Shift_Ins_p.N130fs|ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Frame_Shift_Ins_p.N1230fs|ZCCHC6_uc004aot.3_Frame_Shift_Ins_p.N994fs|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	1230					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CAGATTCTGTATTTTTTCCACA	0.356												
NANS	54187	broad.mit.edu	37	9	100823161	100823162	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:100823160_100823161T>TG	uc004ayc.3	+	1	361_362	c.229_230T>TG	c.(229-231)tggfs	p.W77fs		NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA.	77					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				GAAGCATTCCTGGGGGAAGACG	0.525												
DAB2IP	153090	broad.mit.edu	37	9	124522230	124522232	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:124522229_124522231CAAG>C	uc004bln.3	+	5	666_668	c.597_599CAAG>C	c.(595-600)gccaag>gcCg	p.K202del	DAB2IP_uc004blo.3_In_Frame_Del_p.K106del	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	230	C2.|PH.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						ACCTGCCAGCCAAGAAGAAGTAC	0.606												
RPL12	6136	broad.mit.edu	37	9	130211589	130211589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:130211588_130211588TG>T	uc004bqy.2	-	3	379	c.264_264CA>A	c.(262-264)ccafs	p.P88fs	RPL12_uc004bqz.2_Frame_Shift_Del_p.P55fs|SNORA65_uc004bra.1_5'Flank|LRSAM1_uc004brb.2_5'Flank|LRSAM1_uc010mxk.2_5'Flank|LRSAM1_uc004brc.2_5'Flank|LRSAM1_uc004brd.2_5'Flank	NM_000976	NP_000967	P30050	RL12_HUMAN	Homo sapiens ribosomal protein L12 (RPL12), mRNA.	88					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						TGTCTCTTGGTGGTTCCTTGA	0.433												
SH2D3C	10044	broad.mit.edu	37	9	130507273	130507274	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr9:130507272_130507273T>TG	uc004bsc.3	-	6	1512_1513	c.1370_1371A>CA	c.(1369-1371)ccafs	p.P457fs	SH2D3C_uc010mxo.3_Frame_Shift_Ins_p.P297fs|SH2D3C_uc004bry.3_Frame_Shift_Ins_p.P299fs|SH2D3C_uc004brz.4_Frame_Shift_Ins_p.P103fs|SH2D3C_uc011mak.2_Frame_Shift_Ins_p.P103fs|SH2D3C_uc004bsb.3_Frame_Shift_Ins_p.P389fs|SH2D3C_uc004bsa.3_Frame_Shift_Ins_p.P300fs	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	457					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATGGGTCTTTGGGGCACTTCC	0.673												
DIP2C	22982	broad.mit.edu	37	10	395273	395273	+	Splice_Site	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:395272_395272TG>T	uc001ifp.3	-	25	3199	c.3109_splice	c.e25+1	p.G1037_splice	DIP2C_uc009xhi.1_Splice_Site_p.G423_splice	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1037						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGCCTGTACCTGGGGGGTAGA	0.667												
DIP2C	22982	broad.mit.edu	37	10	468915	468915	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:468914_468914TG>T	uc001ifp.3	-	4	544	c.454_454CA>A	c.(454-456)accfs	p.T152fs	DIP2C_uc009xhk.1_Frame_Shift_Del_p.P153fs	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	152						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGGCTGGAGGTGGGGGTGCCC	0.582												
PHYH	5264	broad.mit.edu	37	10	13325835	13325835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:13325834_13325834TC>T	uc001imf.3	-	6	772	c.684_684GA>A	c.(682-684)ggafs	p.G228fs	PHYH_uc001ime.3_Frame_Shift_Del_p.G128fs	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	228					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGA	0.468												
FRA10AC1	118924	broad.mit.edu	37	10	95445079	95445080	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:95445078_95445079C>CT	uc001kiz.2	-	8	747_748	c.549_550G>AG	c.(547-552)aaagaafs	p.K183fs	FRA10AC1_uc001kiv.2_Non-coding_Transcript	NM_145246	NP_660289	Q70Z53	F10C1_HUMAN	Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA.	183	Lys-rich.					nucleus	protein binding	p.E184K(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TTTAAGCCTTCTTTTTTATCAC	0.307												
ITPRIP	85450	broad.mit.edu	37	10	106075480	106075480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr10:106075479_106075479GC>G	uc001kyf.3	-	2	784	c.331_331GC>C	c.(331-333)cccfs	p.P111fs	ITPRIP_uc001kye.3_Frame_Shift_Del_p.P111fs|ITPRIP_uc001kyg.3_Frame_Shift_Del_p.P111fs|ITPRIP_uc021pxv.1_Frame_Shift_Del_p.P111fs	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	111						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCAGGTGAGGGCCCCTCCTGG	0.677												
WEE1	7465	broad.mit.edu	37	11	9603177	9603177	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:9603176_9603176CT>C	uc001mhs.3	+	5	1492	c.1239_1239CT>C	c.(1237-1239)ggcfs	p.G413fs	WEE1_uc001mht.3_Frame_Shift_Del_p.G199fs	NM_003390	NP_001137448	P30291	WEE1_HUMAN	Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA.	413	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|blood coagulation|cell cycle checkpoint|cell division|mitosis	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	p.R412Q(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TTGGCCGAGGCTTGAGGTATA	0.373												
ARNTL	406	broad.mit.edu	37	11	13398237	13398237	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:13398236_13398236TC>T	uc001mkr.3	+	15	1783	c.1375_1375TC>T	c.(1375-1377)tccfs	p.S459fs	ARNTL_uc001mko.3_Frame_Shift_Del_p.S415fs|ARNTL_uc001mkp.3_Frame_Shift_Del_p.S458fs|ARNTL_uc001mkq.3_Frame_Shift_Del_p.S458fs|ARNTL_uc001mks.3_Frame_Shift_Del_p.S416fs|ARNTL_uc001mkt.3_Frame_Shift_Del_p.S459fs|ARNTL_uc001mkw.3_Frame_Shift_Del_p.S416fs|ARNTL_uc001mkx.3_Frame_Shift_Del_p.S457fs|ARNTL_uc001mky.3_5'UTR	NM_001178	NP_001169	O00327	BMAL1_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA.	459					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GCTCACAGCATCCCCCCACAG	0.582												
CHRM1	1128	broad.mit.edu	37	11	62677507	62677509	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:62677506_62677508GAGA>G	uc021qko.1	-	0	1065_1067	c.1065_1067TCTC>C	c.(1063-1068)ttctcg>ttCg	p.S356del	CHRM1_uc001nwi.3_In_Frame_Del_p.S356del	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	356					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CTTGACCAGCGAGAAGGTCTTCC	0.596												
RPS6KA4	8986	broad.mit.edu	37	11	64129351	64129351	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:64129350_64129350TC>T	uc001oae.3	+	7	865	c.782_782TC>T	c.(781-783)ttcfs	p.F261fs	RPS6KA4_uc001oad.3_Frame_Shift_Del_p.F261fs|RPS6KA4_uc010rnl.2_Frame_Shift_Del_p.F198fs|RPS6KA4_uc001oaf.3_Frame_Shift_Del_p.F261fs|RPS6KA4_uc009ypp.3_Frame_Shift_Del_p.F261fs	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	261	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TCCCCTCCCTTCCCCCCTCGG	0.692												
MAP3K11	4296	broad.mit.edu	37	11	65375538	65375538	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:65375537_65375537CA>C	uc001oew.3	-	2	1418	c.925_925TG>G	c.(925-927)gggfs	p.G309fs	MAP3K11_uc001oev.3_5'Flank|MAP3K11_uc010rol.2_Frame_Shift_Del_p.G52fs|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	309	Protein kinase.				G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						AGCAGCACCCCAAAACTGTGG	0.567												
NUMA1	4926	broad.mit.edu	37	11	71746965	71746965	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:71746964_71746964GC>G	uc001orl.1	-	2	198	c.26_26GC>C	c.(25-27)gctfs	p.A9fs	NUMA1_uc001ork.1_Frame_Shift_Del_p.A9fs|NUMA1_uc001orm.1_Frame_Shift_Del_p.A9fs|NUMA1_uc009ysx.1_Frame_Shift_Del_p.A9fs|NUMA1_uc001oro.1_Frame_Shift_Del_p.A9fs|NUMA1_uc009ysy.2_Frame_Shift_Del_p.A9fs|NUMA1_uc001orp.3_Frame_Shift_Del_p.A9fs|NUMA1_uc001orq.3_Frame_Shift_Del_p.A9fs|NUMA1_uc021qmw.1_Frame_Shift_Del_p.A9fs	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	9					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGT	0.507			T	RARA	APL							
ARHGEF17	9828	broad.mit.edu	37	11	73021527	73021527	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:73021526_73021526GC>G	uc001otu.3	+	0	1864	c.1843_1843GC>G	c.(1843-1845)gccfs	p.A615fs		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	615					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGGAAGCGATGCCCCCCCTGG	0.617												
DNAJB13	374407	broad.mit.edu	37	11	73676057	73676058	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:73676056_73676057C>CA	uc001ouo.3	+	3	1219_1220	c.468_469C>CA	c.(466-471)accaaafs	p.T156fs		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	156					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					TTGGCTGCACCAAAAAAATTAA	0.569											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SYTL2	54843	broad.mit.edu	37	11	85445089	85445089	+	Frame_Shift_Del	DEL	A	A	-	rs145312920		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:85445088_85445088TA>T	uc010rth.2	-	5	1670	c.1281_1281TA>A	c.(1279-1281)ttafs	p.L427fs	SYTL2_uc010rtg.2_Frame_Shift_Del_p.L428fs|SYTL2_uc010rti.2_Frame_Shift_Del_p.L427fs|SYTL2_uc010rtj.2_Frame_Shift_Del_p.L379fs|SYTL2_uc001pbf.4_Frame_Shift_Del_p.L427fs|SYTL2_uc010rtf.2_Frame_Shift_Del_p.L285fs	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	427					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTCTTGCAGTTAAAACTTCTG	0.383												
CUL5	8065	broad.mit.edu	37	11	107917013	107917014	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:107917012_107917013C>CA	uc001pjv.3	+	2	817_818	c.150_151C>CA	c.(148-153)gtctgtfs	p.V50fs	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	50				VCL -> FCF (in Ref. 2; AAB70253).	G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGCATGCAGTCTGTCTTTGGGA	0.337												
UPK2	7379	broad.mit.edu	37	11	118827067	118827068	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:118827066_118827067A>AC	uc001puh.3	+	0	59_60	c.6_7A>AC	c.(4-9)gcacccfs	p.A2fs		NM_006760	NP_006751	O00526	UPK2_HUMAN	Homo sapiens uroplakin 2 (UPK2), mRNA.	2					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CCAGCATGGCACCCCTGCTGCC	0.649												
UPK2	7379	broad.mit.edu	37	11	118827661	118827661	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:118827660_118827660GC>G	uc001puh.3	+	1	197	c.144_144GC>G	c.(142-144)ttgfs	p.L48fs		NM_006760	NP_006751	O00526	UPK2_HUMAN	Homo sapiens uroplakin 2 (UPK2), mRNA.	48					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TGGTTGCCTTGCCCCCCTGTC	0.602											OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CCDC153	283152	broad.mit.edu	37	11	119061043	119061043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr11:119061042_119061042AG>A	uc010rze.2	-	6	814	c.600_600CT>T	c.(598-600)cctfs	p.P200fs		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGA	0.572												
ITPR2	3709	broad.mit.edu	37	12	26640150	26640151	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:26640149_26640150C>CT	uc001rhg.3	-	39	5822_5823	c.5405_5406G>AG	c.(5404-5406)aagfs	p.K1802fs	ITPR2_uc009zjg.1_5'UTR	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1802					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATTTTTCTGACTTTTTTTGTTC	0.327												
DENND5B	160518	broad.mit.edu	37	12	31604973	31604974	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:31604972_31604973T>TA	uc001rkh.1	-	6	1786_1787	c.1635_1636A>TA	c.(1633-1638)tttacafs	p.F545fs	DENND5B_uc001rki.1_Frame_Shift_Ins_p.F510fs|DENND5B_uc001rkj.3_Frame_Shift_Ins_p.F532fs|DENND5B_uc001rkk.1_Frame_Shift_Ins_p.F432fs	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	510	dDENN.					integral to membrane		p.S545S(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AACATCTGTGTAAAACGGTTAG	0.450												
MLL2	8085	broad.mit.edu	37	12	49438211	49438211	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:49438210_49438210GT>G	uc001rta.4	-	19	5059	c.5059_5059AC>C	c.(5059-5061)cgcfs	p.R1687fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1687					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TTACGCTTGCGTTTTTTGCTT	0.597			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KCNH3	23416	broad.mit.edu	37	12	49935520	49935520	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:49935519_49935519AG>A	uc001ruh.1	+	2	677	c.417_417AG>A	c.(415-417)cgafs	p.R139fs	KCNH3_uc010smj.1_Frame_Shift_Del_p.R79fs	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	139	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCAAGAACCGAGGGGGCCCCG	0.587												
PRPF40B	25766	broad.mit.edu	37	12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:50025257_50025257TC>T	uc001rur.1	+	1	155	c.92_92TC>T	c.(91-93)atcfs	p.I31fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.I25fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	31	Pro-rich.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCACCAGCTATCCCCCCCATG	0.607												
AAAS	8086	broad.mit.edu	37	12	53701391	53701391	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:53701390_53701390AC>A	uc001scr.4	-	15	1687	c.1524_1524GT>T	c.(1522-1524)ggtfs	p.G508fs	AAAS_uc001scs.4_Frame_Shift_Del_p.G475fs	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	508					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						TAGAGCCTCCACCCCCAGCAG	0.617												
LRP1	4035	broad.mit.edu	37	12	57572242	57572243	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:57572241_57572242C>CG	uc001snd.3	+	26	4927_4928	c.4461_4462C>CG	c.(4459-4464)tacgggfs	p.Y1487fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589												
R3HDM2	22864	broad.mit.edu	37	12	57648750	57648750	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	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												
MBD6	114785	broad.mit.edu	37	12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:57921400_57921400AC>A	uc001soj.1	+	7	2417	c.2193_2193AC>A	c.(2191-2193)agafs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTCAGGGAGACCCCCCCAAC	0.602												
CEP290	80184	broad.mit.edu	37	12	88443060	88443060	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:88443059_88443059GT>G	uc001tar.3	-	53	7686	c.7342_7342AC>C	c.(7342-7344)cttfs	p.L2448fs	CEP290_uc001taq.3_Frame_Shift_Del_p.L1508fs|C12orf29_uc001tao.3_3'UTR|C12orf29_uc001tap.3_Non-coding_Transcript|C12orf29_uc009zsk.3_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	2448					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGTTCTGAAAGTTTTTTTACC	0.313												
VEZT	55591	broad.mit.edu	37	12	95660289	95660289	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr12:95660288_95660288TA>T	uc001tdz.2	+	4	695	c.590_590TA>T	c.(589-591)ctafs	p.L197fs	VEZT_uc001tds.3_Frame_Shift_Del_p.L149fs|VEZT_uc001tdv.3_Frame_Shift_Del_p.L166fs|VEZT_uc009zsy.1_Frame_Shift_Del_p.L39fs|VEZT_uc001tdr.2_Frame_Shift_Del_p.L39fs|VEZT_uc001tdt.2_Frame_Shift_Del_p.L149fs|VEZT_uc009zsz.1_Frame_Shift_Del_p.L197fs|VEZT_uc001tdw.1_Frame_Shift_Del_p.L149fs|VEZT_uc009zta.1_Frame_Shift_Del_p.L149fs	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	197						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CAAGTGACCCTAAAAAAATAC	0.423												
PARP4	143	broad.mit.edu	37	13	25030500	25030500	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:25030499_25030499GT>G	uc001upl.3	-	20	2648	c.2542_2542AC>C	c.(2542-2544)catfs	p.H848fs	PARP4_uc010tdc.2_Frame_Shift_Del_p.H848fs	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	848					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTTTCTGGATGTTTTTCAACC	0.393												
BRCA2	675	broad.mit.edu	37	13	32911074	32911075	+	Frame_Shift_Ins	INS	-	-	A	rs80359335		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:32911073_32911074C>CA	uc001uub.1	+	10	2808_2809	c.2581_2582C>CA	c.(2581-2583)caafs	p.Q861fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	861	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGAGTAATCCAAAAAAATCAA	0.322			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
PDS5B	23047	broad.mit.edu	37	13	33344286	33344286	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:33344285_33344285GA>G	uc010abf.3	+	31	3837	c.3651_3651GA>G	c.(3649-3651)aggfs	p.R1217fs	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	1217					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CTAGAGGCAGGAAAAAAACGC	0.388												
CAB39L	81617	broad.mit.edu	37	13	49933960	49933960	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:49933959_49933959CT>C	uc001vcw.3	-	3	784	c.286_286AG>G	c.(286-288)gatfs	p.D96fs	CAB39L_uc001vcx.3_Frame_Shift_Del_p.D96fs|CAB39L_uc010adf.3_Frame_Shift_Del_p.D93fs	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.	96					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TGGGTCACATCTTTTTTTCCC	0.333												
MYCBP2	23077	broad.mit.edu	37	13	77844149	77844149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:77844148_77844148CT>C	uc021rks.1	-	6	1506	c.1239_1239AG>G	c.(1237-1239)aagfs	p.K413fs	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTAACCAAGACTTTTTTTCTT	0.294												
RAB20	55647	broad.mit.edu	37	13	111176500	111176500	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr13:111176499_111176499GC>G	uc001vqy.3	-	1	423	c.218_218GC>C	c.(217-219)gcgfs	p.A73fs		NM_017817	NP_060287	Q9NX57	RAB20_HUMAN	Homo sapiens RAB20, member RAS oncogene family (RAB20), mRNA.	73					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			GATGGCGGCCGCCCCCCGGCA	0.607												
SUPT16H	11198	broad.mit.edu	37	14	21820850	21820851	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:21820849_21820850T>TG	uc001wao.2	-	25	3465_3466	c.3126_3127A>CA	c.(3124-3129)cccaagfs	p.P1042fs	SUPT16H_uc001wan.2_Frame_Shift_Ins_p.P186fs	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	1042					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480												
HEATR5A	25938	broad.mit.edu	37	14	31856515	31856515	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:31856514_31856514GA>G	uc001wrf.4	-	7	1186	c.1001_1001TC>C	c.(1000-1002)tctfs	p.S334fs	HEATR5A_uc010ami.3_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Frame_Shift_Del_p.S334fs	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	328							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAGGATATGAGAAAAAAAGGC	0.403												
BAZ1A	11177	broad.mit.edu	37	14	35245128	35245129	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:35245127_35245128G>GA	uc001wsk.3	-	17	3398_3399	c.2830_2831C>TC	c.(2830-2832)tcafs	p.S944fs	BAZ1A_uc001wsl.3_Frame_Shift_Ins_p.S912fs	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	944					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAATTTACCTGAAAAATGAAAT	0.332												
FBXO33	254170	broad.mit.edu	37	14	39871612	39871613	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:39871611_39871612A>AT	uc001wvk.3	-	1	1041_1042	c.703_704T>AT	c.(703-705)attfs	p.I235fs		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	Homo sapiens F-box protein 33 (FBXO33), mRNA.	235										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TTACTGTTTAATTTTTTTGCCA	0.322												
PELI2	57161	broad.mit.edu	37	14	56757067	56757067	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:56757066_56757066AG>A	uc001xch.3	+	4	874	c.588_588AG>A	c.(586-588)cgafs	p.R196fs		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	196					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TGCATCCACGAGGGGGCTTCA	0.587												
ZBTB1	22890	broad.mit.edu	37	14	64988802	64988802	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:64988801_64988801TA>T	uc021rul.1	+	0	579	c.579_579TA>T	c.(577-579)tgtfs	p.C193fs	ZBTB1_uc001xhh.4_Frame_Shift_Del_p.C193fs|ZBTB1_uc010aqg.3_Frame_Shift_Del_p.C193fs|ZBTB1_uc001xhi.2_Frame_Shift_Del_p.C193fs|ZBTB1_uc021rum.1_5'Flank	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		TTGATGTATGTAAAAAAAGTT	0.403												
PLEKHH1	57475	broad.mit.edu	37	14	68053850	68053851	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:68053849_68053850A>AC	uc001xjl.1	+	28	4134_4135	c.3992_3993A>AC	c.(3991-3993)aacfs	p.N1331fs	PLEKHH1_uc010tsw.1_Frame_Shift_Ins_p.N899fs|PLEKHH1_uc001xjn.1_Frame_Shift_Ins_p.N846fs|PLEKHH1_uc010tsx.1_Frame_Shift_Ins_p.E272fs|PLEKHH1_uc001xjo.1_3'UTR|PLEKHH1_uc001xjp.1_Frame_Shift_Ins_p.N196fs	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	1331	FERM.					cytoskeleton	binding	p.P1330T(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACAACTGTGAACCCCCCCACCA	0.515												
YLPM1	56252	broad.mit.edu	37	14	75230562	75230562	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:75230561_75230561CA>C	uc001xqj.4	+	0	493	c.369_369CA>C	c.(367-369)tacfs	p.Y123fs		NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	123	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGCAGCAGTACAAACACCAGA	0.667												
PGF	5228	broad.mit.edu	37	14	75412941	75412942	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:75412940_75412941TTC>T	uc001xqz.3	-	5	982_983	c.460_461GAA>A	c.(460-462)aagfs	p.K154fs	PGF_uc001xrb.3_Intron	NM_002632	NP_002623	P49763	PLGF_HUMAN	Homo sapiens placental growth factor (PGF), transcript variant 1, mRNA.	208					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		GGGTCTCTGCTTCTCTCTCCTC	0.653											OREG0022810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FOXN3	1112	broad.mit.edu	37	14	89878534	89878534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr14:89878533_89878533TG>T	uc001xxo.4	-	1	425	c.288_288CA>A	c.(286-288)ccafs	p.P96fs	FOXN3_uc001xxn.4_Frame_Shift_Del_p.P96fs|FOXN3_uc010atk.3_Frame_Shift_Del_p.P96fs|FOXN3_uc001xxp.2_Frame_Shift_Del_p.P96fs	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	96					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P96fs*42(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGCAGGGGATGGGGGGGTGT	0.587												
ATP2A1	487	broad.mit.edu	37	16	28909397	28909397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:28909396_28909396TC>T	uc002dro.1	+	12	1679	c.1495_1495TC>T	c.(1495-1497)tccfs	p.S499fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Del_p.S499fs|ATP2A1_uc002drp.1_Frame_Shift_Del_p.S374fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	499					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGTCTATTGCTCCCCAGCCAA	0.537												
CDH16	1014	broad.mit.edu	37	16	66947519	66947520	+	Splice_Site	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	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												
PLA2G15	23659	broad.mit.edu	37	16	68289855	68289855	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:68289854_68289854TG>T	uc002evr.3	+	4	771	c.688_688TG>T	c.(688-690)tggfs	p.W230fs	PLA2G15_uc010vld.2_Frame_Shift_Del_p.L188fs|PLA2G15_uc010vle.2_Frame_Shift_Del_p.W136fs|PLA2G15_uc010vlf.2_Intron|PLA2G15_uc002evs.3_Frame_Shift_Del_p.W51fs	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA.	230					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GGGTGCGCCCTGGGGGGGCGT	0.632												
ATP2C2	9914	broad.mit.edu	37	16	84472790	84472809	+	Frame_Shift_Del	DEL	TCCAGAGGGTCTGCCCATCG	TCCAGAGGGTCTGCCCATCG	-	rs79209156		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:84472789_84472808TTCCAGAGGGTCTGCCCATCG>T	uc010chj.3	+	11	1093_1112	c.1004_1023TTCCAGAGGGTCTGCCCATCG>T	c.(1003-1023)attccagagggtctgcccatcfs	p.I335fs	ATP2C2_uc002fhx.3_Frame_Shift_Del_p.I335fs|ATP2C2_uc002fhy.3_Frame_Shift_Del_p.I352fs|ATP2C2_uc002fhz.3_Frame_Shift_Del_p.I184fs	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	335					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTGGCGGCCATTCCAGAGGGTCTGCCCATCGTCGTCATGG	0.564												
KIAA1609	57707	broad.mit.edu	37	16	84514303	84514304	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:84514302_84514303G>GC	uc002fib.3	-	6	1196_1197	c.1089_1090C>GC	c.(1087-1092)gggcagfs	p.G363fs	KIAA1609_uc010vod.2_Frame_Shift_Ins_p.G336fs	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	363	TLD.						protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						TAATTGTGCTGCCCCCCCATAC	0.550												
SPATA2L	124044	broad.mit.edu	37	16	89764374	89764374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr16:89764373_89764373CG>C	uc002foj.3	-	2	731	c.644_644CG>G	c.(643-645)cgafs	p.R215fs	SPATA2L_uc002fok.3_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	Homo sapiens spermatogenesis associated 2-like (SPATA2L), mRNA.	215										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGGGAGCCTCGGGGGGGCAG	0.701												
ITGAE	3682	broad.mit.edu	37	17	3655036	3655036	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:3655035_3655035AG>A	uc002fwo.4	-	14	1901	c.1802_1802CT>T	c.(1801-1803)ctgfs	p.L601fs		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	601					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AAAACCTTCCAGGGGGGCCCC	0.612												
DNAH2	146754	broad.mit.edu	37	17	7736238	7736238	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:7736237_7736237TC>T	uc002giu.1	+	82	12983	c.12969_12969TC>T	c.(12967-12969)tatfs	p.Y4323fs		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	4323					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCTAGTGTATCCCCCCAAGG	0.542												
NLK	51701	broad.mit.edu	37	17	26449740	26449740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:26449739_26449739GT>G	uc010crj.3	+	1	781	c.569_569GT>G	c.(568-570)tgtfs	p.C190fs		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	190	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AAGATGTTGTGTTTTTTTAAG	0.388												
SEZ6	124925	broad.mit.edu	37	17	27284224	27284225	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:27284223_27284224A>AG	uc002hdp.2	-	12	2725_2726	c.2531_2532T>CT	c.(2530-2532)cctfs	p.P844fs	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Frame_Shift_Ins_p.P844fs|SEZ6_uc002hdq.1_Frame_Shift_Ins_p.P719fs	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	844	Sushi 5.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CACCATTCTCAGGGGCACTGAG	0.589												
NKIRAS2	28511	broad.mit.edu	37	17	40174601	40174602	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:40174600_40174601CTT>C	uc002hyq.3	+	2	343_344	c.278_279CTT>C	c.(277-279)tctfs	p.S93fs	NKIRAS2_uc010wgd.2_Frame_Shift_Del_p.L61fs|NKIRAS2_uc002hyr.3_Frame_Shift_Del_p.S93fs|NKIRAS2_uc002hys.3_Frame_Shift_Del_p.S93fs|NKIRAS2_uc010wge.2_Intron|NKIRAS2_uc002hyt.3_Frame_Shift_Del_p.S93fs	NM_001001349	NP_060065	Q9NYR9	KBRS2_HUMAN	Homo sapiens NFKB inhibitor interacting Ras-like 2 (NKIRAS2), transcript variant 1, mRNA.	93	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				AGCAGAGAGTCTTTTCAGCGTG	0.550												
HEXIM2	124790	broad.mit.edu	37	17	43240210	43240211	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:43240209_43240210G>GC	uc010daf.1	+	1	140_141	c.115_116G>GC	c.(115-117)gccfs	p.A39fs	HEXIM2_uc002iih.1_Frame_Shift_Ins_p.A17fs|HEXIM2_uc002iii.1_Frame_Shift_Ins_p.A17fs|HEXIM2_uc002iij.1_Frame_Shift_Ins_p.A17fs	NM_144608	NP_653209	Q96MH2	HEXI2_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 2 (HEXIM2), mRNA.	17					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						GTCACCAGTGGCCCTGGAGGAG	0.564												
TRIM25	7706	broad.mit.edu	37	17	54969424	54969424	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr17:54969423_54969423TC>T	uc002iut.3	-	8	1591	c.1531_1531GA>A	c.(1531-1533)atcfs	p.I511fs	TRIM25_uc010dcj.3_Frame_Shift_Del_p.I303fs|TRIM25_uc021uaj.1_5'Flank	NM_005082	NP_005073	Q14258	TRI25_HUMAN	Homo sapiens tripartite motif containing 25 (TRIM25), mRNA.	511	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CAGTAGTGGATCCCCTTCTTG	0.587												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	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												
CEP192	55125	broad.mit.edu	37	18	13052949	13052950	+	In_Frame_Ins	INS	-	-	CAG			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:13052948_13052949T>TCAG	uc010xac.2	+	17	3128_3129	c.3048_3049T>TCAG	c.(3046-3051)gctcag>gcTCAGag	p.1016_1017AQ>AQ	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_In_Frame_Ins_p.541_542AQ>AQ|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'Flank|CEP192_uc002krs.1_In_Frame_Ins_p.757_758AQ>AQ	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	611										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTTCAGCAGCTCAGCAGCAGCA	0.525												
ASXL3	80816	broad.mit.edu	37	18	31319986	31319986	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:31319985_31319985GA>G	uc010dmg.1	+	10	2672	c.2617_2617GA>G	c.(2617-2619)gaafs	p.E873fs	ASXL3_uc002kxq.2_Frame_Shift_Del_p.E580fs	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAAAGAACAGAAAAAAAAGT	0.378												
DTNA	1837	broad.mit.edu	37	18	32455332	32455332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:32455331_32455331AG>A	uc010dmn.1	+	16	1792	c.1791_1791AG>A	c.(1789-1791)gtafs	p.V597fs	DTNA_uc002kxw.2_Frame_Shift_Del_p.V540fs|DTNA_uc002kxz.2_Frame_Shift_Del_p.V544fs|DTNA_uc002kxy.2_Frame_Shift_Del_p.V537fs|DTNA_uc010dmj.3_Frame_Shift_Del_p.V537fs|DTNA_uc010xby.1_Frame_Shift_Del_p.V287fs|DTNA_uc002kye.3_Frame_Shift_Del_p.V245fs|DTNA_uc010xca.2_Frame_Shift_Del_p.V249fs|DTNA_uc010xbz.2_Frame_Shift_Del_p.V306fs	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	597					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TCACAGGAGTAGGGGGAGATG	0.542												
MOCOS	55034	broad.mit.edu	37	18	33780119	33780139	+	In_Frame_Del	DEL	TCCCCATCTCCTTCTATAAGA	TCCCCATCTCCTTCTATAAGA	-	rs148137052	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:33780118_33780138GTCCCCATCTCCTTCTATAAGA>G	uc002kzq.4	+	3	795_815	c.772_792GTCCCCATCTCCTTCTATAAGA>G	c.(772-792)gtccccatctccttctataag>G	p.VPISFYK258del		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	258					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GGCCGACTTTGTCCCCATCTCCTTCTATAAGATCTTCGGGT	0.584												
SETBP1	26040	broad.mit.edu	37	18	42281720	42281720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:42281719_42281719TG>T	uc010dni.3	+	1	704	c.408_408TG>T	c.(406-408)tctfs	p.S136fs	SETBP1_uc002lay.3_Frame_Shift_Del_p.S136fs	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	136						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCAAGCAGTCTGGGGACCAGA	0.463									Schinzel-Giedion syndrome			
ADNP2	22850	broad.mit.edu	37	18	77894261	77894261	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr18:77894260_77894260TC>T	uc002lnw.3	+	3	1419	c.964_964TC>T	c.(964-966)tccfs	p.S322fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	322	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTCACTCATTCCCCCCCTGC	0.642												
ABCA7	10347	broad.mit.edu	37	19	1058906	1058906	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:1058905_1058905AG>A	uc002lqw.4	+	38	5597	c.5366_5366AG>A	c.(5365-5367)cagfs	p.Q1789fs	ABCA7_uc002lqy.3_Frame_Shift_Del_p.Q242fs|ABCA7_uc010dsc.3_Non-coding_Transcript	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1789					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		GGAGCCACCCAGGGGGATGTG	0.622												
PIAS4	51588	broad.mit.edu	37	19	4037644	4037644	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:4037643_4037643GC>G	uc002lzg.3	+	10	1313	c.1303_1303GC>G	c.(1303-1305)gccfs	p.A435fs		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	435					Wnt receptor signaling pathway|positive regulation of protein sumoylation|transcription, DNA-dependent	PML body|cytoplasm	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCTGCCCGCCCCCAGCGT	0.682												
C19orf70	125988	broad.mit.edu	37	19	5679654	5679654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:5679653_5679653CG>C	uc002mch.1	-	1	565	c.151_151CG>G	c.(151-153)gccfs	p.A51fs	C19orf70_uc002mci.1_3'UTR|HSD11B1L_uc002mcj.3_5'Flank|HSD11B1L_uc002mck.3_5'Flank|HSD11B1L_uc002mcu.3_5'Flank|HSD11B1L_uc002mcn.3_5'Flank|HSD11B1L_uc002mco.3_5'Flank|HSD11B1L_uc002mcp.3_5'Flank|HSD11B1L_uc002mcr.3_5'Flank|HSD11B1L_uc002mcq.3_5'Flank|HSD11B1L_uc010dug.3_5'Flank|HSD11B1L_uc002mct.3_5'Flank|HSD11B1L_uc002mcl.3_5'Flank	NM_205767	NP_991330	Q5XKP0	QIL1_HUMAN	Homo sapiens chromosome 19 open reading frame 70 (C19orf70), mRNA.	51							protein binding			endometrium(1)|lung(1)	2						TGGTACATGGCGGGGGGGACC	0.667												
C3	718	broad.mit.edu	37	19	6697481	6697481	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:6697480_6697480TG>T	uc002mfm.3	-	20	2733	c.2671_2671CA>A	c.(2671-2673)aagfs	p.K891fs		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	891					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AACGAGGACTTGGGGGGGATG	0.577												
MAP2K7	5609	broad.mit.edu	37	19	7976149	7976149	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:7976148_7976148AC>A	uc002mit.3	+	7	934	c.869_869AC>A	c.(868-870)gacfs	p.D290fs	MAP2K7_uc002miv.2_Frame_Shift_Del_p.D290fs|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Frame_Shift_Del_p.D165fs|MAP2K7_uc010xkb.2_Frame_Shift_Del_p.D290fs	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	290	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|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	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D290D(1)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GAGCGCATTGACCCCCCAGAC	0.701												
ZNF878	729747	broad.mit.edu	37	19	12155504	12155504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:12155503_12155503GA>G	uc021upl.1	-	3	879	c.713_713TC>C	c.(712-714)tctfs	p.S238fs	ZNF878_uc002mta.1_Frame_Shift_Del_p.S285fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	238					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						CGAACTGGGAGAAAAAAAGGC	0.393												
FFAR2	2867	broad.mit.edu	37	19	35941540	35941541	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:35941539_35941540A>AG	uc002nzg.2	+	1	1003_1004	c.923_924A>AG	c.(922-924)gagfs	p.E308fs	FFAR2_uc010eea.3_Frame_Shift_Ins_p.E308fs	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	308						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	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)			GACACAGCAGAGGGGACAAATG	0.579												
ZNF234	10780	broad.mit.edu	37	19	44660629	44660629	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:44660628_44660628CA>C	uc002oym.3	+	5	766	c.459_459CA>C	c.(457-459)tacfs	p.Y153fs	ZNF234_uc002oyl.4_Frame_Shift_Del_p.Y153fs	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E152D(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GTGATGAGTACAAAAAATCCT	0.408												
FAM83E	54854	broad.mit.edu	37	19	49107038	49107038	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:49107037_49107037TG>T	uc002pjn.2	-	3	955	c.890_890CA>A	c.(889-891)cagfs	p.Q297fs	SPACA4_uc002pjo.3_5'Flank	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	297										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGAGGGTTTCTGGGGGGGCGC	0.726												
MAMSTR	284358	broad.mit.edu	37	19	49218106	49218107	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr19:49218105_49218106T>TG	uc002pkg.2	-	5	547_548	c.485_486A>CA	c.(484-486)ccafs	p.P162fs	MAMSTR_uc002pkf.2_Frame_Shift_Ins_p.P59fs	NM_001130915	NP_872380	Q6ZN01	MASTR_HUMAN	Homo sapiens MEF2 activating motif and SAP domain containing transcriptional regulator (MAMSTR), transcript variant 1, mRNA.	162	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569												
EDN3	1908	broad.mit.edu	37	20	57897444	57897445	+	Frame_Shift_Ins	INS	-	-	A	rs11570344		TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:57897443_57897444G>GA	uc002yap.3	+	3	928_929	c.559_560G>GA	c.(559-561)gaafs	p.E187fs	EDN3_uc002yao.1_Intron|EDN3_uc002yaq.3_Frame_Shift_Ins_p.E187fs|EDN3_uc002yar.3_Frame_Shift_Ins_p.E187fs|EDN3_uc002yas.3_Intron	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	187					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					AAGGACGGCAGAAAAAACAGAC	0.490												
SYCP2	10388	broad.mit.edu	37	20	58490593	58490593	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr20:58490592_58490592AT>A	uc002yaz.3	-	7	666	c.527_527AT>T	c.(526-528)atgfs	p.M176fs	SYCP2_uc010gju.1_Frame_Shift_Del_p.M77fs	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	176					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CATAGCATTCATTTTTTTTAT	0.284												
SCUBE1	80274	broad.mit.edu	37	22	43634963	43634964	+	Splice_Site	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chr22:43634962_43634963T>TG	uc003bdt.2	-	7	855	c.728_splice	c.e7-1	p.E243_splice	SCUBE1_uc003bdu.2_Intron	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	243	EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CGCACGTCTCTGGGGAGGGAAA	0.589												
IL2RG	3561	broad.mit.edu	37	X	70327614	70327615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:70327613_70327614T>TG	uc004dyw.2	-	7	1174_1175	c.1082_1083A>CA	c.(1081-1083)ccafs	p.P361fs	CXorf65_uc011mpo.2_5'Flank|CXorf65_uc011mpp.2_5'Flank|IL2RG_uc004dyv.2_Frame_Shift_Ins_p.P90fs|IL2RG_uc004dyx.2_Frame_Shift_Ins_p.P171fs	NM_000206	NP_000197	P31785	IL2RG_HUMAN	Homo sapiens interleukin 2 receptor, gamma (IL2RG), mRNA.	361					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked			
PRRG3	79057	broad.mit.edu	37	X	150869297	150869298	+	Frame_Shift_Ins	INS	-	-	G	rs139807152	byFrequency	TCGA-BR-8360-01A-11D-2340-08	TCGA-BR-8360-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdcd47c0-be85-4fef-81fa-0b9a2f02b76b	c4253b55-6a17-4168-9ec4-49773cb08f7f	g.chrX:150869296_150869297C>CG	uc022cgt.1	+	3	536_537	c.487_488C>CG	c.(487-489)cggfs	p.R163fs	PRRG3_uc004few.2_Frame_Shift_Ins_p.R163fs	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	163						extracellular region|integral to membrane	calcium ion binding	p.R163P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCCCAGTCGGGGGGGCAGG	0.673												
