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
SCNN1D	6339	broad.mit.edu	37	1	1222953	1222953	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:1222953C>T	uc001adu.1	+	9	1508	c.884C>T	c.(883-885)GCT>GTT	p.A295V	SCNN1D_uc001adt.1_Missense_Mutation_p.A459V|SCNN1D_uc001adw.2_Missense_Mutation_p.A361V|SCNN1D_uc001adx.2_Missense_Mutation_p.L59F|SCNN1D_uc001adv.2_Missense_Mutation_p.A295V	NM_002978	NP_002969			sodium channel, nonvoltage-gated 1, delta												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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GTCTGGACAGCTCAGCGCCCC	0.667000												
PLCH2	9651	broad.mit.edu	37	1	2436102	2436102	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:2436102G>A	uc001aji.1	+	22	3975	c.3701G>A	c.(3700-3702)CGG>CAG	p.R1234Q	PLCH2_uc010nyz.1_3'UTR|PLCH2_uc009vle.1_Missense_Mutation_p.R986Q|PLCH2_uc001ajj.1_3'UTR|PLCH2_uc001ajk.1_3'UTR|PLCH2_uc001ajl.1_Missense_Mutation_p.R86Q	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	1234					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CTCCCCTTCCGGCCTCCCTGG	0.662000												
UTS2	10911	broad.mit.edu	37	1	7910968	7910968	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:7910968C>T	uc001aor.2	-	2	159	c.118G>A	c.(118-120)GCG>ACG	p.A40T	UTS2_uc001aoq.2_Missense_Mutation_p.A40T|UTS2_uc001aos.2_Missense_Mutation_p.A55T	NM_006786	NP_006777	O95399	UTS2_HUMAN	urotensin 2 isoform b preproprotein	40					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity				0	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		GTTAAGCGCGCGTCTTCATGA	0.463000												
AADACL3	126767	broad.mit.edu	37	1	12779678	12779678	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:12779678G>A	uc009vnn.1	+	2	432	c.199G>A	c.(199-201)GTC>ATC	p.V67I	AADACL3_uc001aug.1_Intron	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3 isoform 1	67							hydrolase activity				0	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGGGGGCGTCATGGGGAG	0.527000												
MFAP2	4237	broad.mit.edu	37	1	17303033	17303033	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:17303033T>C	uc001azw.2	-	6	382	c.249A>G	c.(247-249)GGA>GGG	p.G83G	MFAP2_uc001azx.2_Silent_p.G82G|MFAP2_uc001azy.2_Silent_p.G83G|MFAP2_uc010ocl.1_Silent_p.G82G	NM_002403	NP_002394	P55001	MFAP2_HUMAN	microfibrillar-associated protein 2 isoform a	83						microfibril					0		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTCTGCATTTCCTGGTTCTG	0.607000												
PADI3	51702	broad.mit.edu	37	1	17609510	17609510	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:17609510T>C	uc001bai.2	+	16	1971	c.1931T>C	c.(1930-1932)GTG>GCG	p.V644A		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	644					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)	CATGGGGAGGTGCACTGTGGC	0.602000												
PADI4	23569	broad.mit.edu	37	1	17657500	17657500	+	Silent	SNP	C	C	T	rs138052968		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:17657500C>T	uc001baj.2	+	2	157	c.129C>T	c.(127-129)AAC>AAT	p.N43N	PADI4_uc009vpc.2_Silent_p.N43N	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	43					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TCAGCATCAACGCCTCCCCAG	0.617000												
HSPG2	3339	broad.mit.edu	37	1	22222727	22222727	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:22222727C>T	uc001bfj.2	-	2	180	c.140G>A	c.(139-141)CGC>CAC	p.R47H	HSPG2_uc009vqd.2_Missense_Mutation_p.R47H|HSPG2_uc009vqe.1_Missense_Mutation_p.R2H	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	47					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATGTGTCCAGCGCATTTGGCT	0.562000												
HMGN2	3151	broad.mit.edu	37	1	26801138	26801138	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:26801138G>A	uc001bmp.3	+	5	419	c.217G>A	c.(217-219)GGA>AGA	p.G73R	HMGN2_uc009vsk.2_Missense_Mutation_p.G58R|HMGN2_uc001bmq.3_Missense_Mutation_p.M106I	NM_005517	NP_005508	P05204	HMGN2_HUMAN	high-mobility group nucleosomal binding domain	73					chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding				0		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TGCAGAAAATGGAGATGCCAA	0.398000												
WDTC1	23038	broad.mit.edu	37	1	27589647	27589647	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:27589647G>A	uc009vst.2	+	3	588	c.53G>A	c.(52-54)CGG>CAG	p.R18Q	WDTC1_uc001bno.2_Missense_Mutation_p.R18Q|WDTC1_uc001bnp.1_RNA	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	18							protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CCCTAGGAGCGGGGTGCCCTG	0.378000												
SMPDL3B	27293	broad.mit.edu	37	1	28282576	28282576	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:28282576G>A	uc001bpg.2	+	7	1179	c.988G>A	c.(988-990)GCC>ACC	p.A330T	SMPDL3B_uc001bpf.2_Missense_Mutation_p.A330T|SMPDL3B_uc010ofq.1_Missense_Mutation_p.A124T|SMPDL3B_uc010ofr.1_Missense_Mutation_p.A282T	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	acid sphingomyelinase-like phosphodiesterase 3B	330					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			ovary(3)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		ATATGACCGAGCCACACTGAG	0.557000												
LAPTM5	7805	broad.mit.edu	37	1	31206723	31206723	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:31206723C>T	uc001bsc.2	-	8	832	c.741G>A	c.(739-741)TCG>TCA	p.S247S		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	247	Pro-rich.				transport	integral to plasma membrane|lysosomal membrane					0		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGTCTTCGATGGCAAAG	0.612000												
SERINC2	347735	broad.mit.edu	37	1	31901827	31901827	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:31901827C>T	uc010ogh.1	+	7	996	c.795C>T	c.(793-795)GAC>GAT	p.D265D	SERINC2_uc010ogg.1_Silent_p.D262D|SERINC2_uc001bst.2_Silent_p.D261D|SERINC2_uc001bsu.2_Silent_p.D206D|SERINC2_uc001bsv.2_Silent_p.D206D	NM_178865	NP_849196	Q96SA4	SERC2_HUMAN	tumor differentially expressed 2-like	261						integral to membrane					0		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTTGCCAGGACGCCCAGCCCA	0.617000												
CSMD2	114784	broad.mit.edu	37	1	34291301	34291301	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:34291301C>T	uc001bxn.1	-	7	1017	c.988G>A	c.(988-990)GTG>ATG	p.V330M	CSMD2_uc001bxm.1_Missense_Mutation_p.V370M	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	330	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTTACACACAGACGTCTTC	0.542000												
RSPO1	284654	broad.mit.edu	37	1	38078483	38078483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:38078483G>A	uc001cbl.1	-	8	1524	c.736C>T	c.(736-738)CAA>TAA	p.Q246*	RSPO1_uc001cbm.1_Nonsense_Mutation_p.Q246*|RSPO1_uc009vvf.1_Nonsense_Mutation_p.Q219*|RSPO1_uc009vvg.1_Nonsense_Mutation_p.Q183*	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN	R-spondin1 precursor	246					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCTGCTGTTGCTGCCCCTTG	0.642000												
EPHA10	284656	broad.mit.edu	37	1	38186494	38186494	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:38186494G>A	uc009vvi.2	-	12	2255	c.2169C>T	c.(2167-2169)ACC>ACT	p.T723T	EPHA10_uc001cbt.2_5'Flank|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	723	Cytoplasmic (Potential).|Protein kinase.					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)				TCATGTACTCGGTGACAATCA	0.592000												
ZMPSTE24	10269	broad.mit.edu	37	1	40735792	40735792	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:40735792T>C	uc001cfg.2	+	5	831	c.620T>C	c.(619-621)GTG>GCG	p.V207A		NM_005857	NP_005848	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	207	Helical; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity				0	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ACATTAGTTGTGTCTCTGGTG	0.338000												
CYP4Z1	199974	broad.mit.edu	37	1	47534390	47534390	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:47534390A>C	uc001cqu.1	+	2	277	c.274A>C	c.(274-276)AGT>CGT	p.S92R		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	cytochrome P450 4Z1	92	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			skin(1)	1						GATGTTCTTCAGTGTCCATGA	0.458000												
TAL1	6886	broad.mit.edu	37	1	47691501	47691501	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:47691501G>A	uc001cqx.2	-	2	637	c.60C>T	c.(58-60)GAC>GAT	p.D20D	TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Silent_p.D20D|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	NM_003189	NP_003180	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	20					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			lung(1)	1						CCTCGGCCGCGTCCCGTCCCT	0.721000			T	TRD@|SIL	lymphoblastic leukemia/biphasic							
FAM159A	348378	broad.mit.edu	37	1	53099298	53099298	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:53099298G>A	uc001cuf.2	+	1	233	c.133G>A	c.(133-135)GAC>AAC	p.D45N	FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	hypothetical protein LOC348378	45						integral to membrane					0						CTGCTGCGACGACCCGCACAG	0.537000												
PODN	127435	broad.mit.edu	37	1	53542968	53542968	+	Missense_Mutation	SNP	C	C	T	rs149007009		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:53542968C>T	uc001cuv.2	+	6	839	c.832C>T	c.(832-834)CGC>TGC	p.R278C	PODN_uc001cuw.2_Missense_Mutation_p.R259C|PODN_uc010onr.1_Missense_Mutation_p.R259C|PODN_uc010ons.1_Intron	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	230	LRR 6.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	p.R278H(1)		ovary(1)|pancreas(1)	2						CAACTTCCTGCGCCACGTGCC	0.642000												
C1orf175	374977	broad.mit.edu	37	1	55119781	55119781	+	Silent	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:55119781C>A	uc010ooe.1	+	3	1506	c.1182C>A	c.(1180-1182)ATC>ATA	p.I394I	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Silent_p.I394I|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.I394I|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	394						integral to membrane	binding				0						GATTCCCCATCTCCAACCCCG	0.602000												
ANGPTL3	27329	broad.mit.edu	37	1	63068014	63068014	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:63068014G>A	uc001das.1	+	5	945	c.894G>A	c.(892-894)ACG>ACA	p.T298T	DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3 precursor	298	Fibrinogen C-terminal.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity				0						TCAATGAAACGTGGGAGAACT	0.269000												
FOXD3	27022	broad.mit.edu	37	1	63789968	63789968	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:63789968G>A	uc001dax.2	+	1	1239	c.1239G>A	c.(1237-1239)GCG>GCA	p.A413A		NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN	forkhead box D3	413					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						GCAGCACGGCGCAGTCGTTTC	0.736000												
CACHD1	57685	broad.mit.edu	37	1	65143941	65143941	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:65143941C>T	uc001dbo.1	+	23	3144	c.3039C>T	c.(3037-3039)TTC>TTT	p.F1013F	CACHD1_uc001dbp.1_Silent_p.F768F|CACHD1_uc001dbq.1_Silent_p.F768F|CACHD1_uc010opa.1_Silent_p.F257F	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	1064	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						AAGAATGCTTCGGGGGGATTG	0.473000												
LHX8	431707	broad.mit.edu	37	1	75606736	75606736	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:75606736C>T	uc001dgo.2	+	5	998	c.334C>T	c.(334-336)CAC>TAC	p.H112Y	LHX8_uc001dgq.2_Missense_Mutation_p.H51Y	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	112	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CCTAGGAAGGCACACCAGCTG	0.393000												
ATXN7L2	127002	broad.mit.edu	37	1	110031590	110031590	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:110031590G>A	uc001dxr.2	+	7	920	c.905G>A	c.(904-906)CGC>CAC	p.R302H	ATXN7L2_uc001dxs.2_5'UTR|ATXN7L2_uc001dxt.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	302										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)		AGCCCAGGGCGCAAGGAGCAA	0.647000												
AHCYL1	10768	broad.mit.edu	37	1	110559020	110559020	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:110559020T>C	uc001dyx.2	+	8	1204	c.837T>C	c.(835-837)AAT>AAC	p.N279N	AHCYL1_uc010ovw.1_Silent_p.N232N|AHCYL1_uc001dyy.2_Silent_p.N232N|AHCYL1_uc010ovx.1_Silent_p.N232N	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	279					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TGAACGTCAATGATTCTGTTA	0.413000												
WARS2	10352	broad.mit.edu	37	1	119575742	119575742	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:119575742C>T	uc001ehn.2	-	6	903	c.875G>A	c.(874-876)CGC>CAC	p.R292H	WARS2_uc010oxf.1_Missense_Mutation_p.R198H|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.R235H|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	292					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CGCGCTGCGGCGCACCACTTC	0.602000												
VPS45	11311	broad.mit.edu	37	1	150053479	150053479	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:150053479A>G	uc001etp.2	+	8	1316	c.743A>G	c.(742-744)GAT>GGT	p.D248G	VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.D212G|VPS45_uc010pbs.1_Missense_Mutation_p.D143G|VPS45_uc001etq.2_Missense_Mutation_p.D68G|VPS45_uc009wlm.1_Missense_Mutation_p.D224G|VPS45_uc010pbr.1_Intron	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45A	248					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				central_nervous_system(1)|skin(1)	2	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATCGGATTGATCTTTCCAGA	0.358000												
CELF3	11189	broad.mit.edu	37	1	151680108	151680108	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:151680108G>A	uc001eys.1	-	7	1441	c.647C>T	c.(646-648)GCG>GTG	p.A216V	CELF3_uc010pdh.1_Missense_Mutation_p.A24V|CELF3_uc001eyr.2_Missense_Mutation_p.A215V|CELF3_uc009wmy.2_Missense_Mutation_p.A216V|CELF3_uc009wmx.1_Missense_Mutation_p.A216V|CELF3_uc001eyt.2_Missense_Mutation_p.A139V|C1orf230_uc001eyu.2_5'Flank	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	trinucleotide repeat containing 4	216					nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			ovary(1)|central_nervous_system(1)	2						TACCAGGGCCGCCTGCTGCTG	0.682000												
NPR1	4881	broad.mit.edu	37	1	153658636	153658636	+	Missense_Mutation	SNP	G	G	A	rs145787747		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:153658636G>A	uc001fcs.3	+	10	2139	c.1718G>A	c.(1717-1719)CGC>CAC	p.R573H	NPR1_uc010pdz.1_Missense_Mutation_p.R319H|NPR1_uc010pea.1_Intron	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	573	Cytoplasmic (Potential).|Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AACCGTAAACGCATTGAGCTG	0.547000												
ASH1L	55870	broad.mit.edu	37	1	155317682	155317682	+	Missense_Mutation	SNP	C	C	T	rs41264231	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:155317682C>T	uc009wqq.2	-	20	8063	c.7583G>A	c.(7582-7584)CGT>CAT	p.R2528H	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.R2523H|MIR555_hsa-mir-555|MI0003561_5'Flank	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2528	Bromo.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGGGGATTTACGCCCATAGTA	0.433000												
SEMA4A	64218	broad.mit.edu	37	1	156142686	156142686	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:156142686G>C	uc001fnl.2	+	11	1308	c.1204G>C	c.(1204-1206)GTG>CTG	p.V402L	SEMA4A_uc009wrq.2_Missense_Mutation_p.V402L|SEMA4A_uc001fnm.2_Missense_Mutation_p.V402L|SEMA4A_uc001fnn.2_Missense_Mutation_p.V270L|SEMA4A_uc001fno.2_Missense_Mutation_p.V402L	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	402	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					GGATGAGCAAGTGGTGGGGAC	0.567000												
RHBG	57127	broad.mit.edu	37	1	156339053	156339053	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:156339053C>A	uc010pho.1	+	1	51	c.13C>A	c.(13-15)CCT>ACT	p.P5T	RHBG_uc010phm.1_Missense_Mutation_p.P5T|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_5'UTR|RHBG_uc009wrz.2_5'UTR|RHBG_uc001for.2_5'UTR	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	5	Cytoplasmic (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					GGCCGGGTCTCCTAGCCGCGC	0.682000												
SH2D2A	9047	broad.mit.edu	37	1	156779466	156779466	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:156779466G>A	uc001fqd.2	-	6	841	c.701C>T	c.(700-702)GCC>GTC	p.A234V	SH2D2A_uc001fqc.1_Missense_Mutation_p.A206V|SH2D2A_uc009wsh.2_Missense_Mutation_p.A244V|SH2D2A_uc001fqe.2_Missense_Mutation_p.A216V|SH2D2A_uc010phs.1_Missense_Mutation_p.A234V	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	234	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTCTCCCCGGCCCCCTCTTT	0.637000												
NTRK1	4914	broad.mit.edu	37	1	156843535	156843535	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:156843535G>A	uc001fqh.1	+	8	1017	c.961G>A	c.(961-963)GTG>ATG	p.V321M	NTRK1_uc001fqf.1_Missense_Mutation_p.V291M|NTRK1_uc009wsi.1_Missense_Mutation_p.V26M|NTRK1_uc001fqi.1_Missense_Mutation_p.V321M|NTRK1_uc009wsk.1_Missense_Mutation_p.V321M	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	321	Ig-like C2-type 2.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CAATGGCTCCGTGCTCAATGA	0.627000			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)		
SPTA1	6708	broad.mit.edu	37	1	158606546	158606546	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:158606546T>G	uc001fst.1	-	37	5394	c.5195A>C	c.(5194-5196)AAG>ACG	p.K1732T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1732	Spectrin 17.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCGTATCAACTTCTCCCTAAA	0.473000												
FCER1A	2205	broad.mit.edu	37	1	159275825	159275825	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:159275825C>T	uc001ftq.2	+	5	478	c.379C>T	c.(379-381)CCC>TCC	p.P127S		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	127	Ig-like 2.|Extracellular (Potential).					integral to plasma membrane				lung(2)|skin(2)|prostate(1)	5	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GGAGGGCCAGCCCCTCTTCCT	0.453000												
VANGL2	57216	broad.mit.edu	37	1	160393967	160393967	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:160393967G>A	uc001fwb.1	+	8	1498	c.1199G>A	c.(1198-1200)CGT>CAT	p.R400H	VANGL2_uc001fwc.1_Missense_Mutation_p.R400H	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	400	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)			TCCATGGCCCGTGCCATGCAG	0.572000												
ADAMTS4	9507	broad.mit.edu	37	1	161166627	161166627	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:161166627G>A	uc001fyt.3	-	2	1105	c.677C>T	c.(676-678)GCA>GTA	p.A226V	ADAMTS4_uc001fyu.2_Missense_Mutation_p.A226V|NDUFS2_uc001fyv.2_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	226	Peptidase M12B.				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)			CTTGTCATCTGCCACCACCAG	0.552000												
LMX1A	4009	broad.mit.edu	37	1	165182925	165182925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:165182925G>A	uc001gcy.1	-	4	843	c.622C>T	c.(622-624)CGA>TGA	p.R208*	LMX1A_uc001gcz.1_Nonsense_Mutation_p.R208*|LMX1A_uc001gcw.1_5'Flank|LMX1A_uc001gcx.1_5'Flank	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	208	Homeobox.					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)					TTGAATGCTCGCCTCTGTTGA	0.557000												
TBX19	9095	broad.mit.edu	37	1	168262408	168262408	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:168262408T>C	uc001gfl.2	+	3	546	c.495T>C	c.(493-495)TAT>TAC	p.Y165Y	TBX19_uc001gfj.3_Silent_p.Y96Y	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	165	T-box.				anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					TGCATAAATATGAACCCCAGG	0.478000												
SOAT1	6646	broad.mit.edu	37	1	179310351	179310351	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:179310351T>C	uc001gml.2	+	7	749	c.686T>C	c.(685-687)ATC>ACC	p.I229T	SOAT1_uc010pni.1_Missense_Mutation_p.I164T|SOAT1_uc001gmm.2_Missense_Mutation_p.I171T|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Missense_Mutation_p.I164T	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	229					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTTTCATGATCTTCCAGATT	0.433000												
CEP350	9857	broad.mit.edu	37	1	180062648	180062648	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:180062648C>T	uc001gnt.2	+	34	7791	c.7408C>T	c.(7408-7410)CGC>TGC	p.R2470C	CEP350_uc009wxl.2_Missense_Mutation_p.R2469C|CEP350_uc001gnv.2_Missense_Mutation_p.R605C|CEP350_uc001gnw.1_Missense_Mutation_p.R227C|CEP350_uc001gnx.1_Missense_Mutation_p.R227C	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2470						centrosome|nucleus|spindle				ovary(4)	4						AAGTAAGGAGCGCAGTGATGT	0.453000												
GLUL	2752	broad.mit.edu	37	1	182354634	182354634	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:182354634C>T	uc001gpa.1	-	6	873	c.661G>A	c.(661-663)GCC>ACC	p.A221T	GLUL_uc010pnt.1_Missense_Mutation_p.A8T|GLUL_uc001gpb.1_Missense_Mutation_p.A221T|GLUL_uc001gpc.1_Missense_Mutation_p.A221T|GLUL_uc001gpd.1_Missense_Mutation_p.A221T	NM_001033056	NP_001028228	P15104	GLNA_HUMAN	glutamine synthetase	221					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)	ATGAAACGGGCCACCCAGAGA	0.478000												
GLT25D2	23127	broad.mit.edu	37	1	183909828	183909828	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:183909828G>A	uc001gqr.2	-	11	1863	c.1491C>T	c.(1489-1491)ACC>ACT	p.T497T	GLT25D2_uc010poj.1_Silent_p.T497T|GLT25D2_uc001gqp.2_Silent_p.T105T|GLT25D2_uc001gqq.2_Silent_p.T234T|GLT25D2_uc001gqs.2_Silent_p.T377T	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	497					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						CGTAGCCCAGGGTCCAGTAGG	0.502000												
PLA2G4A	5321	broad.mit.edu	37	1	186957564	186957564	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:186957564G>A	uc001gsc.2	+	18	2379	c.2174G>A	c.(2173-2175)CGT>CAT	p.R725H	PLA2G4A_uc010pos.1_Missense_Mutation_p.R665H	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	725	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	AATCCATCTCGTTGCTCTGTT	0.383000												
KIF21B	23046	broad.mit.edu	37	1	200974695	200974695	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:200974695C>T	uc001gvs.1	-	4	892	c.575G>A	c.(574-576)CGC>CAC	p.R192H	KIF21B_uc001gvr.1_Missense_Mutation_p.R192H|KIF21B_uc009wzl.1_Missense_Mutation_p.R192H|KIF21B_uc010ppn.1_Missense_Mutation_p.R192H|KIF21B_uc001gvt.1_5'UTR	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	192	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						GTGGATGAGGCGAGAAGTGAC	0.622000												
KDM5B	10765	broad.mit.edu	37	1	202710789	202710789	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:202710789G>A	uc001gyf.2	-	19	2767	c.2651C>T	c.(2650-2652)ACG>ATG	p.T884M	KDM5B_uc009xag.2_Missense_Mutation_p.T920M|KDM5B_uc001gyg.1_Missense_Mutation_p.T726M	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	884					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						AGCACTAGGCGTTTCCTCAGA	0.418000												
PPFIA4	8497	broad.mit.edu	37	1	203024614	203024614	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:203024614G>A	uc001gyz.2	+	3	959	c.366G>A	c.(364-366)ACG>ACA	p.T122T	PPFIA4_uc009xaj.2_Silent_p.T753T|PPFIA4_uc010pqf.1_Silent_p.T335T|PPFIA4_uc001gza.2_Silent_p.T122T|PPFIA4_uc001gzb.1_5'Flank	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	122	Potential.				cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						AGATTGAGACGCGTGTAACCA	0.612000												
CDK18	5129	broad.mit.edu	37	1	205495220	205495220	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:205495220C>T	uc001hcr.2	+	6	793	c.574C>T	c.(574-576)CGC>TGC	p.R192C	CDK18_uc010pri.1_Missense_Mutation_p.A182V|CDK18_uc001hcp.2_Missense_Mutation_p.R162C|CDK18_uc001hcq.2_Missense_Mutation_p.R162C|CDK18_uc010prj.1_Missense_Mutation_p.R73C|CDK18_uc001hcs.2_Missense_Mutation_p.R73C|CDK18_uc009xbm.1_Missense_Mutation_p.R73C	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	160	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			stomach(2)	2						CTTCAAAGGGCGCAGCAAACT	0.577000												
SLC41A1	254428	broad.mit.edu	37	1	205768111	205768111	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:205768111G>A	uc001hdh.1	-	5	1543	c.671C>T	c.(670-672)ACA>ATA	p.T224I	uc001hdi.1_5'Flank	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	224	Helical; (Potential).					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			skin(2)	2	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AATGAAGGCTGTGGCCACGCT	0.597000												
USH2A	7399	broad.mit.edu	37	1	216052348	216052348	+	Silent	SNP	A	A	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:216052348A>C	uc001hku.1	-	42	8703	c.8316T>G	c.(8314-8316)ACT>ACG	p.T2772T		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2772	Fibronectin type-III 14.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACACTGCGGAAGTCACATTGG	0.443000										HNSCC(13;0.011)		
USH2A	7399	broad.mit.edu	37	1	216172363	216172363	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:216172363G>A	uc001hku.1	-	34	6910	c.6523C>T	c.(6523-6525)CGC>TGC	p.R2175C		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2175	Extracellular (Potential).|Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATACATAGCGTTCCAGAATC	0.313000										HNSCC(13;0.011)		
TGFB2	7042	broad.mit.edu	37	1	218520238	218520238	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:218520238G>A	uc001hlm.2	+	1	848	c.195G>A	c.(193-195)CCG>CCA	p.P65P	TGFB2_uc001hll.2_Silent_p.P65P|TGFB2_uc001hln.2_Silent_p.P65P|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	NM_003238	NP_003229	P61812	TGFB2_HUMAN	transforming growth factor, beta 2 isoform 2	65					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding				0				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AAGTCCCCCCGGAGGTGATTT	0.627000												
SIPA1L2	57568	broad.mit.edu	37	1	232568138	232568138	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:232568138C>T	uc001hvg.2	-	14	4269	c.4111G>A	c.(4111-4113)GTG>ATG	p.V1371M	SIPA1L2_uc001hvf.2_Missense_Mutation_p.V445M	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1371	Ser-rich.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGTGAGACACGATGTAGACT	0.493000												
PCNXL2	80003	broad.mit.edu	37	1	233190017	233190017	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:233190017G>A	uc001hvl.2	-	25	4583	c.4348C>T	c.(4348-4350)CGA>TGA	p.R1450*	PCNXL2_uc001hvk.1_Nonsense_Mutation_p.R102*|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1450						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TTCTTACCTCGGAATTCCAGT	0.368000												
KCNK1	3775	broad.mit.edu	37	1	233802519	233802519	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:233802519G>A	uc010pxo.1	+	2	702	c.534G>A	c.(532-534)GTG>GTA	p.V178V	KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA	NM_002245	NP_002236	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	178	Helical; (Potential).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			central_nervous_system(1)	1		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CCAAGCAGGTGGTGGCCATCG	0.612000												
ACTN2	88	broad.mit.edu	37	1	236924372	236924372	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:236924372G>A	uc001hyf.2	+	20	2629	c.2425G>A	c.(2425-2427)GTC>ATC	p.V809I	ACTN2_uc001hyg.2_Missense_Mutation_p.V601I|ACTN2_uc009xgi.1_Missense_Mutation_p.V809I|ACTN2_uc010pxu.1_Missense_Mutation_p.V498I|ACTN2_uc001hyh.2_Missense_Mutation_p.V497I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	809	2; possibly ancestral.|EF-hand 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCAAGGCACCGTCACCTTCCA	0.542000												
MTR	4548	broad.mit.edu	37	1	237015832	237015832	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:237015832T>C	uc001hyi.3	+	17	2130	c.1707T>C	c.(1705-1707)CCT>CCC	p.P569P	MTR_uc010pxw.1_Silent_p.P162P|MTR_uc010pxx.1_Silent_p.P569P|MTR_uc010pxy.1_Intron	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	569	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAACATTACCTGGAGCCAGAA	0.398000												
EXO1	9156	broad.mit.edu	37	1	242042466	242042466	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:242042466C>T	uc001hzh.2	+	13	2470	c.1930C>T	c.(1930-1932)CCT>TCT	p.P644S	EXO1_uc001hzi.2_Missense_Mutation_p.P644S|EXO1_uc001hzj.2_Missense_Mutation_p.P644S|EXO1_uc009xgq.2_Missense_Mutation_p.P643S	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	644	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CACCTCTTTGCCTGAGAATAA	0.502000								Direct_reversal_of_damage|Editing_and_processing_nucleases				
PLD5	200150	broad.mit.edu	37	1	242253167	242253167	+	Missense_Mutation	SNP	G	G	A	rs140318994		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:242253167G>A	uc001hzn.1	-	10	1727	c.1600C>T	c.(1600-1602)CGG>TGG	p.R534W	PLD5_uc001hzl.3_Missense_Mutation_p.R472W|PLD5_uc001hzm.3_Missense_Mutation_p.R324W|PLD5_uc001hzo.1_Missense_Mutation_p.R442W			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	534						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TATACGTTCCGGGGATCCTTT	0.428000												
CEP170	9859	broad.mit.edu	37	1	243349684	243349684	+	Silent	SNP	G	G	A	rs139999949	by1000genomes	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:243349684G>A	uc001hzs.2	-	9	1557	c.1149C>T	c.(1147-1149)AAC>AAT	p.N383N	CEP170_uc001hzt.2_Silent_p.N383N|CEP170_uc001hzu.2_Silent_p.N383N	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	383						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GAGCCCCAGCGTTCTCTGAAT	0.428000												
OR2T11	127077	broad.mit.edu	37	1	248789600	248789600	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:248789600A>G	uc001ier.1	-	1	830	c.830T>C	c.(829-831)ATT>ACT	p.I277T		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGCGTGACAATGGTATAGAA	0.483000												
SFMBT2	57713	broad.mit.edu	37	10	7262416	7262416	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:7262416G>A	uc009xio.1	-	11	1378	c.1287C>T	c.(1285-1287)TCC>TCT	p.S429S	SFMBT2_uc001ijn.1_Silent_p.S429S|SFMBT2_uc010qay.1_Intron	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	429	MBT 4.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CACTCACAACGGAGGCCACAC	0.517000												
GATA3	2625	broad.mit.edu	37	10	8100351	8100351	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:8100351G>A	uc001ika.2	+	3	882	c.325G>A	c.(325-327)GCC>ACC	p.A109T	GATA3_uc001ijz.2_Missense_Mutation_p.A109T	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	109					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						CCACCACACCGCCTCCCCCTG	0.697000			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)					
GATA3	2625	broad.mit.edu	37	10	8115975	8115975	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:8115975G>A	uc001ika.2	+	6	1878	c.1321G>A	c.(1321-1323)GCC>ACC	p.A441T	GATA3_uc001ijz.2_Missense_Mutation_p.A442T	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	441				A -> G (in Ref. 4; AAA35870).	aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						CATGGTCACCGCCATGGGTTA	0.617000			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)					
UPF2	26019	broad.mit.edu	37	10	11971928	11971928	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:11971928G>A	uc001ila.2	-	20	4219	c.3745C>T	c.(3745-3747)CGG>TGG	p.R1249W	UPF2_uc001ilb.2_Missense_Mutation_p.R1249W|UPF2_uc001ilc.2_Missense_Mutation_p.R1249W	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	1249	Sufficient for interaction with UPF1 C- terminus.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TAGCGAGGCCGCCTCTCACGA	0.458000												
MCM10	55388	broad.mit.edu	37	10	13228168	13228168	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:13228168G>A	uc001ima.2	+	9	1207	c.1106G>A	c.(1105-1107)TGT>TAT	p.C369Y	MCM10_uc001imb.2_Missense_Mutation_p.C368Y|MCM10_uc001imc.2_Missense_Mutation_p.C368Y	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	369					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TTACAGGTGTGTTTATCTATC	0.428000												
ENKUR	219670	broad.mit.edu	37	10	25284784	25284784	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:25284784G>A	uc001isg.1	-	3	403	c.238C>T	c.(238-240)CGG>TGG	p.R80W	ENKUR_uc001ish.1_Missense_Mutation_p.R18W	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	80						cilium|flagellum	calmodulin binding|SH3 domain binding				0						GGCACGTTCCGATCAAAGTTT	0.328000												
MPP7	143098	broad.mit.edu	37	10	28409129	28409129	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:28409129T>A	uc001iua.1	-	12	1285	c.881A>T	c.(880-882)CAG>CTG	p.Q294L	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.Q294L|MPP7_uc009xla.2_Missense_Mutation_p.Q294L|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	294	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						TCACCTTTCCTGGAAATGCTT	0.438000												
ZNF438	220929	broad.mit.edu	37	10	31137596	31137596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:31137596G>A	uc010qdz.1	-	7	2173	c.1738C>T	c.(1738-1740)CGA>TGA	p.R580*	ZNF438_uc001ivn.2_Nonsense_Mutation_p.R531*|ZNF438_uc010qdy.1_Nonsense_Mutation_p.R570*|ZNF438_uc001ivo.3_Nonsense_Mutation_p.R144*|ZNF438_uc009xlg.2_Nonsense_Mutation_p.R580*|ZNF438_uc001ivp.3_Nonsense_Mutation_p.R570*|ZNF438_uc010qea.1_Nonsense_Mutation_p.R580*|ZNF438_uc010qeb.1_Nonsense_Mutation_p.R580*|ZNF438_uc010qec.1_Nonsense_Mutation_p.R144*	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	580	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				AAATAGACTCGGATGTGGCCA	0.483000												
ANKRD30A	91074	broad.mit.edu	37	10	37430700	37430700	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:37430700C>A	uc001iza.1	+	7	806	c.707C>A	c.(706-708)CCT>CAT	p.P236H		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	292						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						GAAAGAACACCTGACACAGCT	0.443000												
ZNF248	57209	broad.mit.edu	37	10	38120778	38120778	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:38120778C>T	uc001izd.1	-	6	2004	c.1505G>A	c.(1504-1506)TGT>TAT	p.C502Y	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.C502Y	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	502	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGACTTCACACAGAAGGATTT	0.423000												
SYT15	83849	broad.mit.edu	37	10	46967470	46967470	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:46967470G>A	uc001jea.2	-	4	760	c.607C>T	c.(607-609)CGC>TGC	p.R203C	SYT15_uc001jdz.2_Missense_Mutation_p.R203C|SYT15_uc001jeb.2_Missense_Mutation_p.R81C|SYT15_uc010qfp.1_RNA	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	203	Cytoplasmic (Potential).|C2 1.					integral to membrane|plasma membrane					0						GAGGTTTTGCGTTTGGTCTTG	0.612000												
PHYHIPL	84457	broad.mit.edu	37	10	60994193	60994193	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:60994193G>A	uc001jkk.3	+	2	502	c.236G>A	c.(235-237)CGC>CAC	p.R79H	PHYHIPL_uc001jkl.3_Missense_Mutation_p.R33H|PHYHIPL_uc001jkm.3_Missense_Mutation_p.R53H	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting	79	Fibronectin type-III.										0						TCAAAGGATCGCATTACACAC	0.323000												
CDH23	64072	broad.mit.edu	37	10	73270932	73270932	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:73270932C>T	uc001jrx.3	+	6	769	c.392C>T	c.(391-393)ACA>ATA	p.T131I	CDH23_uc001jrw.3_Missense_Mutation_p.T131I|CDH23_uc001jrv.2_Missense_Mutation_p.T126I|CDH23_uc009xql.2_Missense_Mutation_p.T176I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	131	Cadherin 1.|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						AACGCGCCCACATTTCACAAT	0.582000												
VCL	7414	broad.mit.edu	37	10	75868773	75868773	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:75868773T>C	uc001jwd.2	+	18	2698	c.2604T>C	c.(2602-2604)GGT>GGC	p.G868G	VCL_uc009xrr.2_Silent_p.G617G|VCL_uc010qky.1_Silent_p.G775G|VCL_uc001jwe.2_Silent_p.G868G|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	868	Linker (Pro-rich).|Pro-rich.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					TGCCTGAAGGTGAGGTCCCTC	0.502000												
KCNMA1	3778	broad.mit.edu	37	10	79397198	79397198	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:79397198G>A	uc001jxn.2	-	1	380	c.203C>T	c.(202-204)GCG>GTG	p.A68V	KCNMA1_uc001jxj.2_Missense_Mutation_p.A68V|KCNMA1_uc001jxo.2_Missense_Mutation_p.A68V|KCNMA1_uc001jxm.2_Missense_Mutation_p.A68V|KCNMA1_uc001jxq.2_Missense_Mutation_p.A68V|KCNMA1_uc001jxs.3_Missense_Mutation_p.A68V|KCNMA1_uc001jxt.3_Missense_Mutation_p.A68V	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	68	Extracellular (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GATGATGAGCGCATCCATCTT	0.438000												
RPS24	6229	broad.mit.edu	37	10	79795304	79795304	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:79795304G>A	uc001jzq.2	+	3	247	c.105G>A	c.(103-105)GTG>GTA	p.V35V	RPS24_uc001jzo.2_Silent_p.V35V|RPS24_uc010qlo.1_Silent_p.V35V|RPS24_uc001jzp.2_Silent_p.V35V|RPS24_uc001jzs.2_Silent_p.V35V|RPS24_uc001jzt.2_RNA	NM_001026	NP_001017	P62847	RS24_HUMAN	ribosomal protein S24 isoform c	35					endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	nucleotide binding|structural constituent of ribosome|translation initiation factor binding			skin(1)	1	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			AGGCGACAGTGCCTAAGACAG	0.398000												
PANK1	53354	broad.mit.edu	37	10	91353063	91353063	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:91353063A>G	uc001kgp.1	-	5	1658	c.1502T>C	c.(1501-1503)ATG>ACG	p.M501T	PANK1_uc001kgn.1_Missense_Mutation_p.M276T|PANK1_uc001kgo.1_Missense_Mutation_p.M217T|PANK1_uc009xtu.1_Missense_Mutation_p.M303T|uc001kgq.1_5'Flank|MIR107_hsa-mir-107|MI0000114_5'Flank	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha	501					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)	TTCTTTACTCATCATGTTGCC	0.507000												
PIK3AP1	118788	broad.mit.edu	37	10	98386589	98386589	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:98386589C>T	uc001kmq.2	-	10	1673	c.1545G>A	c.(1543-1545)ACG>ACA	p.T515T	PIK3AP1_uc001kmo.2_Silent_p.T114T|PIK3AP1_uc001kmp.2_Silent_p.T337T	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	515						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CGTCATCCACCGTGTGATAAA	0.552000												
DNMBP	23268	broad.mit.edu	37	10	101639817	101639817	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:101639817T>C	uc001kqj.2	-	16	4391	c.4299A>G	c.(4297-4299)AGA>AGG	p.R1433R	DNMBP_uc010qpl.1_Silent_p.R369R|DNMBP_uc001kqg.2_Silent_p.R721R|DNMBP_uc001kqh.2_Silent_p.R1065R	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1433	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTGAAGGGCATCTGGAAGGAC	0.532000												
SFXN3	81855	broad.mit.edu	37	10	102795417	102795417	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:102795417T>C	uc001ksp.2	+	4	793	c.337T>C	c.(337-339)TTC>CTC	p.F113L	SFXN3_uc001ksq.2_Missense_Mutation_p.F113L|SFXN3_uc010qpx.1_Intron	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	113					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CATGCTCACATTCTACAGGCA	0.572000												
LBX1	10660	broad.mit.edu	37	10	102987488	102987488	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:102987488G>A	uc001ksx.2	-	2	530	c.385C>T	c.(385-387)CGC>TGC	p.R129C	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	129	Homeobox.				muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		AAGGCCGTGCGCGACTTTCGC	0.587000												
NPM3	10360	broad.mit.edu	37	10	103541521	103541521	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:103541521G>A	uc001ktt.2	-	5	532	c.509C>T	c.(508-510)CCT>CTT	p.P170L		NM_006993	NP_008924	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	170							nucleic acid binding				0		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CTTTTTGGCAGGAAGGATGGG	0.438000											OREG0020469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LDB1	8861	broad.mit.edu	37	10	103871259	103871259	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:103871259C>T	uc009xwz.2	-	2	403	c.60G>A	c.(58-60)CCG>CCA	p.P20P	LDB1_uc001kuk.3_5'UTR|LDB1_uc001kul.3_5'UTR	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	20					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GGGGCTCCTTCGGCGAGTACA	0.433000												
GBF1	8729	broad.mit.edu	37	10	104119976	104119976	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:104119976C>T	uc001kux.1	+	12	1453	c.1213C>T	c.(1213-1215)CGC>TGC	p.R405C	GBF1_uc001kuw.2_3'UTR|GBF1_uc001kuy.1_Missense_Mutation_p.R405C|GBF1_uc001kuz.1_Missense_Mutation_p.R406C	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	405					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TCCCTGCATCCGCGAGCTCTT	0.547000												
C10orf79	80217	broad.mit.edu	37	10	105956617	105956617	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:105956617A>T	uc001kxw.2	-	10	1403	c.1287T>A	c.(1285-1287)AAT>AAA	p.N429K	C10orf79_uc001kxx.3_Missense_Mutation_p.N430K|C10orf79_uc001kxy.1_Missense_Mutation_p.N430K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	429	WD 7.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		TTACTAGGGTATTCAGATAAA	0.303000												
SORCS1	114815	broad.mit.edu	37	10	108923921	108923921	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:108923921C>G	uc001kym.2	-	1	372	c.364G>C	c.(364-366)GAG>CAG	p.E122Q	SORCS1_uc001kyl.2_Missense_Mutation_p.E122Q|SORCS1_uc009xxs.2_Missense_Mutation_p.E122Q|SORCS1_uc001kyn.1_Missense_Mutation_p.E122Q|SORCS1_uc001kyo.2_Missense_Mutation_p.E122Q	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	122	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTCGCGCCCTCTCCCCGTTCT	0.706000												
SHOC2	8036	broad.mit.edu	37	10	112724378	112724378	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:112724378G>A	uc001kzl.3	+	2	611	c.262G>A	c.(262-264)GCA>ACA	p.A88T	SHOC2_uc009xxx.2_Missense_Mutation_p.A88T|SHOC2_uc010qrg.1_Intron|SHOC2_uc001kzn.2_Missense_Mutation_p.A88T	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	88					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			ovary(1)|skin(1)	2				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		ATCCAGCAATGCAGAGGTGAT	0.448000												
TECTB	6975	broad.mit.edu	37	10	114057846	114057846	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:114057846G>A	uc001kzr.1	+	7	691	c.691G>A	c.(691-693)GTC>ATC	p.V231I		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	tectorin beta precursor	231	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix					0		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGATGAAACCGTCCTCGTGCA	0.517000												
TCF7L2	6934	broad.mit.edu	37	10	114912188	114912188	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:114912188C>T	uc001lae.3	+	11	1765	c.1258C>T	c.(1258-1260)CGG>TGG	p.R420W	TCF7L2_uc001lac.3_Missense_Mutation_p.R397W|TCF7L2_uc010qrk.1_Missense_Mutation_p.R397W|TCF7L2_uc010qrl.1_Missense_Mutation_p.R397W|TCF7L2_uc010qrm.1_Missense_Mutation_p.R420W|TCF7L2_uc010qrn.1_Missense_Mutation_p.R363W|TCF7L2_uc001lad.3_Missense_Mutation_p.R393W|TCF7L2_uc001lag.3_Missense_Mutation_p.R444W|TCF7L2_uc001laf.3_Missense_Mutation_p.R397W|TCF7L2_uc010qro.1_Missense_Mutation_p.R397W|TCF7L2_uc001lah.2_Missense_Mutation_p.R402W|TCF7L2_uc010qrp.1_Missense_Mutation_p.R397W|TCF7L2_uc010qrq.1_Missense_Mutation_p.R393W|TCF7L2_uc010qrr.1_Missense_Mutation_p.R335W|TCF7L2_uc010qrs.1_Missense_Mutation_p.R291W|TCF7L2_uc010qrt.1_Missense_Mutation_p.R291W|TCF7L2_uc010qru.1_Missense_Mutation_p.R319W|TCF7L2_uc010qrv.1_Missense_Mutation_p.R237W|TCF7L2_uc010qrw.1_Missense_Mutation_p.R124W|TCF7L2_uc010qrx.1_Missense_Mutation_p.R277W	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	420					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTGGTCCGCGCGGGATAACTA	0.527000												
HSPA12A	259217	broad.mit.edu	37	10	118434447	118434447	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:118434447G>A	uc001lct.2	-	12	1978	c.1873C>T	c.(1873-1875)CGC>TGC	p.R625C	HSPA12A_uc001lcu.2_Missense_Mutation_p.R542C	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	625							ATP binding			ovary(1)	1				all cancers(201;0.0158)		AGATCCAGGCGGAGCGTGCCA	0.592000												
KIAA1598	57698	broad.mit.edu	37	10	118713647	118713647	+	Silent	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:118713647A>G	uc009xyw.2	-	5	840	c.342T>C	c.(340-342)ACT>ACC	p.T114T	KIAA1598_uc001lcz.3_Silent_p.T114T|KIAA1598_uc010qso.1_Silent_p.T54T|KIAA1598_uc010qsp.1_Silent_p.T114T|KIAA1598_uc010qsq.1_Silent_p.T54T|KIAA1598_uc001lcy.3_Silent_p.T84T	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN	shootin1 isoform a	114	Potential.				axon guidance	axon					0				all cancers(201;0.00494)		TTATCTCTTCAGTTATTACAT	0.368000												
PRLHR	2834	broad.mit.edu	37	10	120354648	120354648	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:120354648C>T	uc001ldp.1	-	2	248	c.109G>A	c.(109-111)GGG>AGG	p.G37R		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	37	Extracellular (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCCACCGACCCGTTGCCCGCC	0.667000												
INPP5F	22876	broad.mit.edu	37	10	121567499	121567499	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:121567499G>A	uc001leo.2	+	13	1662	c.1496G>A	c.(1495-1497)CGC>CAC	p.R499H		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	499	SAC.						phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AAATGTAATCGCATCTACCAG	0.443000												
GPR123	84435	broad.mit.edu	37	10	134916258	134916258	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:134916258G>A	uc001llx.3	+	5	749	c.313G>A	c.(313-315)GCC>ACC	p.A105T	GPR123_uc001llw.2_Missense_Mutation_p.A825T	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	105	Helical; Name=3; (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)		AGGAGTGACCGCCAGGAACAT	0.622000												
ADAM8	101	broad.mit.edu	37	10	135083962	135083962	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:135083962G>A	uc010qva.1	-	15	1621	c.1570C>T	c.(1570-1572)CGT>TGT	p.R524C	ADAM8_uc010quz.1_Missense_Mutation_p.R563C|ADAM8_uc009ybi.2_Missense_Mutation_p.R563C			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	524					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CAGATGGCACGCCCCAGGGGC	0.647000												
DRD4	1815	broad.mit.edu	37	11	639781	639781	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:639781C>T	uc001lqp.1	+	3	532	c.532C>T	c.(532-534)CGC>TGC	p.R178C		NM_000797	NP_000788	P21917	DRD4_HUMAN	dopamine receptor D4	178	Extracellular (Potential).				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding				0		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	CAACGACGTGCGCGGCCGCGA	0.726000												
PDDC1	347862	broad.mit.edu	37	11	771381	771381	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:771381G>A	uc001lrc.2	-	6	521	c.496C>T	c.(496-498)CCG>TCG	p.P166S	PDDC1_uc010qwm.1_Missense_Mutation_p.P116S|PDDC1_uc001lrd.2_Missense_Mutation_p.P166S|PDDC1_uc001lrf.1_Silent_p.C143C|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_Missense_Mutation_p.P116S|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Missense_Mutation_p.P130S|PDDC1_uc010qwq.1_Missense_Mutation_p.P80S|PDDC1_uc010qwr.1_Missense_Mutation_p.P166S|PDDC1_uc010qws.1_Missense_Mutation_p.P116S	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	166						extracellular region					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;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCACGAGCGGCAGGCGGGCG	0.706000												
MUC6	4588	broad.mit.edu	37	11	1016092	1016092	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:1016092G>T	uc001lsw.2	-	31	6760	c.6709C>A	c.(6709-6711)CCA>ACA	p.P2237T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2237	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCTGGATGGGGTGGGAGAC	0.602000												
MUC5B	727897	broad.mit.edu	37	11	1272413	1272413	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:1272413C>T	uc009ycr.1	+	52	15395	c.15269C>T	c.(15268-15270)ACC>ATC	p.T5090I	MUC5B_uc001ltb.2_Missense_Mutation_p.T4771I	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4693	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCACAGACCACCACACCC	0.582000												
NUP98	4928	broad.mit.edu	37	11	3726529	3726529	+	Missense_Mutation	SNP	G	G	A	rs144100440		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:3726529G>A	uc001lyh.2	-	22	3274	c.2983C>T	c.(2983-2985)CGC>TGC	p.R995C	NUP98_uc001lyi.2_Missense_Mutation_p.R995C|NUP98_uc001lyg.2_Missense_Mutation_p.R63C	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1012					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CGACTGAAGCGTTGATCCAGT	0.433000			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML							
OR56A1	120796	broad.mit.edu	37	11	6048430	6048430	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:6048430G>T	uc010qzw.1	-	1	505	c.505C>A	c.(505-507)CTC>ATC	p.L169I		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGAAGTGAGGATAGGAATG	0.478000												
ARFIP2	23647	broad.mit.edu	37	11	6499032	6499032	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:6499032C>A	uc001mdk.2	-	7	923	c.786G>T	c.(784-786)CAG>CAT	p.Q262H	ARFIP2_uc001mdl.2_Missense_Mutation_p.Q262H|ARFIP2_uc010ral.1_Missense_Mutation_p.Q224H|ARFIP2_uc010ram.1_Missense_Mutation_p.Q168H|ARFIP2_uc010ran.1_Missense_Mutation_p.Q295H|ARFIP2_uc001mdm.2_RNA	NM_012402	NP_036534	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	262	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGAAAGTGGCCTGGGCACTCT	0.587000												
SBF2	81846	broad.mit.edu	37	11	9878031	9878031	+	Silent	SNP	G	G	A	rs140730386	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:9878031G>A	uc001mib.2	-	19	2475	c.2337C>T	c.(2335-2337)AGC>AGT	p.S779S	SBF2_uc001mif.3_Silent_p.S535S|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	779					myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGTTGCTTCCGCTCTCCCAGT	0.473000												
AMPD3	272	broad.mit.edu	37	11	10524329	10524329	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:10524329G>T	uc001mio.1	+	13	2239	c.1904G>T	c.(1903-1905)AGC>ATC	p.S635I	AMPD3_uc010rbz.1_Missense_Mutation_p.S476I|AMPD3_uc001min.1_Missense_Mutation_p.S644I|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.S642I|AMPD3_uc009yfy.2_Missense_Mutation_p.S635I	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	635					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TCTCCTCTTAGCAACAACAGT	0.473000												
EIF4G2	1982	broad.mit.edu	37	11	10826480	10826480	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:10826480G>T	uc001mjc.2	-	5	748	c.331C>A	c.(331-333)CTT>ATT	p.L111I	EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Missense_Mutation_p.L111I|EIF4G2_uc001mjf.1_5'UTR	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	111	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ACCCCTTTAAGGATGAGTTTA	0.373000												
MRGPRX3	117195	broad.mit.edu	37	11	18158959	18158959	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:18158959G>A	uc001mnu.2	+	3	571	c.210G>A	c.(208-210)GCG>GCA	p.A70A		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	70	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						ACCTGGTCGCGGCCGACTTCC	0.562000												
IGSF22	283284	broad.mit.edu	37	11	18736149	18736149	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:18736149G>A	uc009yht.2	-	12	1744	c.1554C>T	c.(1552-1554)AGC>AGT	p.S518S	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	518										ovary(4)|large_intestine(2)|kidney(1)	7						CGGACATCCCGCTCTTCACTG	0.607000												
ANO5	203859	broad.mit.edu	37	11	22301182	22301182	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:22301182G>A	uc001mqi.2	+	22	2930	c.2613G>A	c.(2611-2613)ATG>ATA	p.M871I	ANO5_uc001mqj.2_Missense_Mutation_p.M870I	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	871	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						AAAAGTTAATGACTATCAAGA	0.343000												
SLC17A6	57084	broad.mit.edu	37	11	22396404	22396404	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:22396404C>T	uc001mqk.2	+	9	1558	c.1145C>T	c.(1144-1146)ACG>ATG	p.T382M		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	382	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						CTTTCAACTACGACAGTGAGA	0.373000												
GAS2	2620	broad.mit.edu	37	11	22833350	22833350	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:22833350C>T	uc009yie.2	+	8	1036	c.730C>T	c.(730-732)CAC>TAC	p.H244Y	GAS2_uc001mqm.2_Missense_Mutation_p.H244Y|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.H244Y	NM_001143830	NP_001137302	O43903	GAS2_HUMAN	growth arrest-specific 2	244	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				ovary(1)|skin(1)	2						TCAGATGCTGCACAACAAACA	0.428000												
DCDC1	341019	broad.mit.edu	37	11	31327839	31327839	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:31327839T>C	uc001msv.2	-	5	733	c.531A>G	c.(529-531)ACA>ACG	p.T177T	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	177	Doublecortin.				intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					TTTTGTAAGCTGTTACTTTAA	0.373000												
CD59	966	broad.mit.edu	37	11	33731873	33731873	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:33731873G>A	uc001mus.3	-	3	468	c.186C>T	c.(184-186)AAC>AAT	p.N62N	CD59_uc009yjx.2_Silent_p.N62N|CD59_uc009yjy.2_Silent_p.N62N|CD59_uc009yjz.2_Silent_p.N62N|CD59_uc001mut.3_Silent_p.N62N|CD59_uc009yka.2_Silent_p.N62N|CD59_uc001muu.3_Silent_p.N62N|CD59_uc001muv.3_Silent_p.N62N|CD59_uc001mux.3_Missense_Mutation_p.T103I	NM_001127223	NP_001120695	P13987	CD59_HUMAN	CD59 antigen preproprotein	62	UPAR/Ly6.				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction					0						TCCAACACTTGTTATACACTT	0.428000												
ACCS	84680	broad.mit.edu	37	11	44098843	44098843	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:44098843C>A	uc009yks.1	+	7	715	c.571C>A	c.(571-573)CCC>ACC	p.P191T	EXT2_uc010rfo.1_Intron|ACCS_uc010rfm.1_Intron|ACCS_uc010rfn.1_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.P191T	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase	191							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						TTTCCTGATCCCCACCCCTTA	0.582000												
ZNF408	79797	broad.mit.edu	37	11	46726219	46726219	+	Silent	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:46726219A>G	uc001nde.1	+	5	1199	c.969A>G	c.(967-969)CCA>CCG	p.P323P	ZNF408_uc010rgw.1_Silent_p.P315P	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						CAAAGACCCCAGAGCCTGGAG	0.637000												
MADD	8567	broad.mit.edu	37	11	47312235	47312235	+	Missense_Mutation	SNP	C	C	T	rs143064159		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:47312235C>T	uc001ner.1	+	20	3420	c.3229C>T	c.(3229-3231)CGG>TGG	p.R1077W	MADD_uc001neq.2_Missense_Mutation_p.R1057W|MADD_uc001nev.1_Missense_Mutation_p.R1014W|MADD_uc001nes.1_Missense_Mutation_p.R1034W|MADD_uc001net.1_Missense_Mutation_p.R1077W|MADD_uc009yln.1_Missense_Mutation_p.R1014W|MADD_uc001neu.1_Missense_Mutation_p.R1014W|MADD_uc001nex.2_Missense_Mutation_p.R1077W|MADD_uc001nez.2_Missense_Mutation_p.R1014W|MADD_uc001new.2_Missense_Mutation_p.R1057W|MADD_uc009ylo.2_5'UTR	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1077					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		CCTAGCTGGGCGGGGGGACCC	0.532000												
OR4C11	219429	broad.mit.edu	37	11	55371101	55371101	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:55371101C>T	uc010rii.1	-	1	749	c.749G>A	c.(748-750)GGC>GAC	p.G250D		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TATACATGGGCCAAAGAATAA	0.438000												
OR4S2	219431	broad.mit.edu	37	11	55418792	55418792	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:55418792C>T	uc001nhs.1	+	1	413	c.413C>T	c.(412-414)ACA>ATA	p.T138I		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	138	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				AACCGGGAGACATGCAATAAA	0.438000												
OR10AG1	282770	broad.mit.edu	37	11	55735148	55735148	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:55735148C>T	uc010rit.1	-	1	792	c.792G>A	c.(790-792)CTG>CTA	p.L264L		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	264	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					AAAGAGAAATCAGTTTCCCCA	0.368000												
CTNND1	1500	broad.mit.edu	37	11	57571140	57571140	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:57571140G>A	uc001nmc.3	+	8	2039	c.1468G>A	c.(1468-1470)GTG>ATG	p.V490M	CTNND1_uc001nlh.1_Missense_Mutation_p.V490M|CTNND1_uc001nlu.3_Missense_Mutation_p.V389M|CTNND1_uc001nlt.3_Missense_Mutation_p.V389M|CTNND1_uc001nls.3_Missense_Mutation_p.V389M|CTNND1_uc001nlw.3_Missense_Mutation_p.V389M|CTNND1_uc001nmf.3_Missense_Mutation_p.V490M|CTNND1_uc001nmd.3_Missense_Mutation_p.V436M|CTNND1_uc001nlk.3_Missense_Mutation_p.V436M|CTNND1_uc001nme.3_Missense_Mutation_p.V490M|CTNND1_uc001nll.3_Missense_Mutation_p.V436M|CTNND1_uc001nmg.3_Missense_Mutation_p.V436M|CTNND1_uc001nlj.3_Missense_Mutation_p.V436M|CTNND1_uc001nlr.3_Missense_Mutation_p.V436M|CTNND1_uc001nlp.3_Missense_Mutation_p.V436M|CTNND1_uc001nlx.3_Missense_Mutation_p.V167M|CTNND1_uc001nlz.3_Missense_Mutation_p.V167M|CTNND1_uc009ymn.2_Missense_Mutation_p.V167M|CTNND1_uc001nlm.3_Missense_Mutation_p.V490M|CTNND1_uc001nly.3_Missense_Mutation_p.V167M|CTNND1_uc001nmb.3_Missense_Mutation_p.V167M|CTNND1_uc001nma.3_Missense_Mutation_p.V167M|CTNND1_uc001nmi.3_Missense_Mutation_p.V389M|CTNND1_uc001nmh.3_Missense_Mutation_p.V490M|CTNND1_uc001nlq.3_Missense_Mutation_p.V389M|CTNND1_uc001nln.3_Missense_Mutation_p.V490M|CTNND1_uc001nli.3_Missense_Mutation_p.V490M|CTNND1_uc001nlo.3_Missense_Mutation_p.V389M|CTNND1_uc001nlv.3_Missense_Mutation_p.V389M	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	490	ARM 4.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				AATGGAGATTGTGGACCATGC	0.458000												
NAA40	79829	broad.mit.edu	37	11	63719910	63719910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:63719910C>T	uc009yoz.2	+	5	410	c.283C>T	c.(283-285)CGA>TGA	p.R95*	NAA40_uc010rmw.1_Nonsense_Mutation_p.R55*|NAA40_uc010rmx.1_Nonsense_Mutation_p.R74*|NAA40_uc010rmy.1_5'Flank	NM_024771	NP_079047	Q86UY6	NAA40_HUMAN	N-acetyltransferase 11	95	N-acetyltransferase.						N-acetyltransferase activity				0						CTGGAAGGACCGAGAGAAACG	0.572000												
CCDC88B	283234	broad.mit.edu	37	11	64111563	64111563	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:64111563G>A	uc001nzy.2	+	14	1594	c.1550G>A	c.(1549-1551)GGC>GAC	p.G517D	CCDC88B_uc009ypo.1_Missense_Mutation_p.G514D|CCDC88B_uc001nzz.1_Missense_Mutation_p.G166D	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88	517					microtubule cytoskeleton organization	cytoplasm	microtubule binding			ovary(3)|skin(1)	4						AGCCCTCAGGGCTTGGTTCAG	0.642000												
SLC22A11	55867	broad.mit.edu	37	11	64337280	64337280	+	Silent	SNP	G	G	A	rs34836439		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:64337280G>A	uc001oai.2	+	9	1913	c.1539G>A	c.(1537-1539)CCG>CCA	p.P513P	SLC22A11_uc001oaj.2_Intron|SLC22A11_uc009ypq.2_Silent_p.P405P	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	513	Cytoplasmic (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	TCTTCCTCCCGGAGACCCAGG	0.622000												
ATG2A	23130	broad.mit.edu	37	11	64677303	64677303	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:64677303G>A	uc001obx.2	-	14	2072	c.1957C>T	c.(1957-1959)CGG>TGG	p.R653W		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	653							protein binding			ovary(1)|central_nervous_system(1)	2						GGCTCAGGCCGCAGGTCGGCA	0.706000												
NPAS4	266743	broad.mit.edu	37	11	66189603	66189603	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:66189603C>T	uc001ohx.1	+	2	364	c.188C>T	c.(187-189)GCG>GTG	p.A63V	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	63					transcription, DNA-dependent		DNA binding|signal transducer activity				0						ACTCCTCTGGCGGGCCCCACG	0.567000												
RBM4	5936	broad.mit.edu	37	11	66407528	66407528	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:66407528G>A	uc009yrj.2	+	2	834	c.346G>A	c.(346-348)GTA>ATA	p.V116I	RBM4_uc009yrk.2_Intron|RBM4_uc001oiv.2_Missense_Mutation_p.V116I|RBM4_uc001oiw.1_Missense_Mutation_p.V116I|RBM4_uc001oix.1_Missense_Mutation_p.V116I|RBM4_uc010rpj.1_Missense_Mutation_p.V116I|RBM4_uc001oiy.1_Missense_Mutation_p.V116I|RBM4_uc001oiz.1_Missense_Mutation_p.V116I	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	116	RRM 2.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TTATGCCTTCGTACACATGGA	0.527000												
ALDH3B2	222	broad.mit.edu	37	11	67432885	67432885	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:67432885C>T	uc001omr.2	-	7	1016	c.577G>A	c.(577-579)GAC>AAC	p.D193N	ALDH3B2_uc001oms.2_Missense_Mutation_p.D193N|ALDH3B2_uc009ysa.1_Missense_Mutation_p.D193N	NM_000695	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3B2	193					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			lung(1)|kidney(1)	2					NADH(DB00157)	TGGGGGTCGTCGCCATAGAAA	0.662000												
ALDH3B1	221	broad.mit.edu	37	11	67789211	67789211	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:67789211G>A	uc010rpy.1	+	8	936	c.820G>A	c.(820-822)GAC>AAC	p.D274N	ALDH3B1_uc001omz.2_Missense_Mutation_p.D274N|ALDH3B1_uc001ona.2_Missense_Mutation_p.D237N|ALDH3B1_uc001onb.2_RNA	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3B1 isoform a	274					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase				0					NADH(DB00157)	TTTCTATGGCGACGACCCCCA	0.657000											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LRP5	4041	broad.mit.edu	37	11	68201267	68201267	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:68201267G>A	uc001ont.2	+	18	4036	c.3961G>A	c.(3961-3963)GCA>ACA	p.A1321T	LRP5_uc009ysg.2_Missense_Mutation_p.A731T	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1321	LDL-receptor class A 2.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CGACGGCGAGGCAGACTGTCA	0.706000												
MTL5	9633	broad.mit.edu	37	11	68478438	68478438	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:68478438A>G	uc001ooc.2	-	9	1378	c.1238T>C	c.(1237-1239)ATG>ACG	p.M413T		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	413					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGGCATGCTCATTAGTGTCTT	0.408000												
IGHMBP2	3508	broad.mit.edu	37	11	68704522	68704522	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:68704522G>A	uc001ook.1	+	13	2676	c.2574G>A	c.(2572-2574)CAG>CAA	p.Q858Q	IGHMBP2_uc001ool.1_Silent_p.Q482Q|IGHMBP2_uc001oom.1_Silent_p.Q436Q	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	858	Gln/Pro-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTCAGGGCAGCAGAAACTTC	0.577000												
PHOX2A	401	broad.mit.edu	37	11	71952153	71952153	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:71952153C>T	uc001osh.3	-	2	570	c.398G>A	c.(397-399)CGC>CAC	p.R133H		NM_005169	NP_005160	O14813	PHX2A_HUMAN	paired-like homeobox 2a	133	Homeobox.				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CACCTGCACGCGAGCCTCAGT	0.587000												
FAT3	120114	broad.mit.edu	37	11	92569759	92569759	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:92569759C>T	uc001pdj.3	+	15	10131	c.10114C>T	c.(10114-10116)CCC>TCC	p.P3372S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3372	Extracellular (Potential).|Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGACAGCCAGCCCAACGGACA	0.408000										TCGA Ovarian(4;0.039)		
PGR	5241	broad.mit.edu	37	11	100933287	100933287	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:100933287T>C	uc001pgh.2	-	4	2846	c.2103A>G	c.(2101-2103)GCA>GCG	p.A701A	PGR_uc001pgg.2_Silent_p.A82A|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	701	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGTCATGTCCTGCATAGATCA	0.428000												
PGR	5241	broad.mit.edu	37	11	100999479	100999479	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:100999479C>A	uc001pgh.2	-	1	1066	c.323G>T	c.(322-324)AGC>ATC	p.S108I	PGR_uc001pgi.2_Missense_Mutation_p.S108I|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	108	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CAGCAGTCCGCTGTCCTTTTC	0.632000												
C11orf88	399949	broad.mit.edu	37	11	111385697	111385697	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:111385697G>A	uc001pln.3	+	1	188	c.188G>A	c.(187-189)CGT>CAT	p.R63H	BTG4_uc001plj.2_5'Flank|BTG4_uc001plk.2_5'Flank|C11orf88_uc009yyd.2_Missense_Mutation_p.R63H|C11orf88_uc001plo.1_Missense_Mutation_p.R63H	NM_001100388	NP_001093858	Q6PI97	CK088_HUMAN	hypothetical protein LOC399949 isoform 2	63											0						AGCAGTCAGCGTCTGCCGGTG	0.592000											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LAYN	143903	broad.mit.edu	37	11	111431078	111431078	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:111431078C>T	uc001plr.1	+	8	1380	c.1044C>T	c.(1042-1044)AGC>AGT	p.S348S	LAYN_uc001plp.1_Silent_p.S340S|LAYN_uc001plq.1_3'UTR|LAYN_uc001pls.1_3'UTR|LAYN_uc010rwg.1_Silent_p.S195S|LAYN_uc010rwh.1_Silent_p.S196S	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	layilin	348	Cytoplasmic (Potential).|3 X 5 AA repeats of E-S-G-X-V.|Interaction with NF2 (By similarity).|Interaction with TLN1 (By similarity).					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding				0		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		CTCTGGTGAGCGTGGAGAGTG	0.478000												
FAM55A	120400	broad.mit.edu	37	11	114401086	114401086	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:114401086T>C	uc001ppa.2	-	3	635	c.218A>G	c.(217-219)CAT>CGT	p.H73R	FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.H215R	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	215						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		AGTGAAGACATGAGAGGTGCC	0.453000												
FAM55D	54827	broad.mit.edu	37	11	114442042	114442042	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:114442042C>T	uc001ppc.2	-	6	1434	c.1253G>A	c.(1252-1254)CGG>CAG	p.R418Q	FAM55D_uc001ppd.2_Missense_Mutation_p.R134Q	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	418						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		GTCAATGGCCCGGGTGAGGTA	0.433000												
CBL	867	broad.mit.edu	37	11	119146846	119146846	+	Splice_Site	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:119146846T>C	uc001pwe.2	+	6	1145	c.1007_splice	c.e6+2	p.F336_splice		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral						epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GGAAGGCTTGTGAGTACCTAC	0.443000									CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome			
OR4D5	219875	broad.mit.edu	37	11	123811133	123811133	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:123811133C>T	uc001pzk.1	+	1	810	c.810C>T	c.(808-810)GCC>GCT	p.A270A		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	270	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGACAAGGCCGTCTCTGTGC	0.488000												
OR8D2	283160	broad.mit.edu	37	11	124189676	124189676	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:124189676C>A	uc010sah.1	-	1	418	c.418G>T	c.(418-420)GTC>TTC	p.V140F		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		ATGGAACAGACCCTGTGGGAC	0.458000												
ACRV1	56	broad.mit.edu	37	11	125548009	125548009	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:125548009G>T	uc001qcs.2	-	2	503	c.236C>A	c.(235-237)ACT>AAT	p.T79N	ACRV1_uc001qck.2_Intron|ACRV1_uc001qcl.2_Intron|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Intron|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Intron|ACRV1_uc001qcr.2_Missense_Mutation_p.T79N	NM_001612	NP_001603	P26436	ASPX_HUMAN	acrosomal vesicle protein 1 isoform a precursor	79	3 X 5 AA repeats of S-E-H-[GA]-S.				multicellular organismal development	acrosomal vesicle					0	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CTCGGCCACAGTGTGCTTGCT	0.502000												
TIRAP	114609	broad.mit.edu	37	11	126162737	126162737	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:126162737C>T	uc001qdm.1	+	5	885	c.433C>T	c.(433-435)CTG>TTG	p.L145L	TIRAP_uc001qdl.1_Silent_p.L145L|TIRAP_uc009zcb.1_Silent_p.L145L|TIRAP_uc001qdn.1_Silent_p.L145L|TIRAP_uc001qdo.1_Silent_p.L145L	NM_001039661	NP_001034750	P58753	TIRAP_HUMAN	Toll-interleukin 1 receptor domain-containing	145	TIR.				3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity			ovary(1)	1	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		CTGCCGGGTGCTGCTCATCAC	0.662000												
ST14	6768	broad.mit.edu	37	11	130069878	130069878	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:130069878C>T	uc001qfw.2	+	16	2033	c.1840C>T	c.(1840-1842)CGT>TGT	p.R614C		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	614	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GAGACAGGCTCGTGTTGTTGG	0.612000												
IGSF9B	22997	broad.mit.edu	37	11	133791120	133791120	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:133791120C>T	uc001qgx.3	-	18	2731	c.2500G>A	c.(2500-2502)GTG>ATG	p.V834M		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	834	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCTTGGCCACGCTGTACTTC	0.657000												
IQSEC3	440073	broad.mit.edu	37	12	274932	274932	+	Silent	SNP	G	G	A	rs115184339	by1000genomes	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:274932G>A	uc001qhw.1	+	8	1944	c.1938G>A	c.(1936-1938)TCG>TCA	p.S646S	IQSEC3_uc001qhu.1_Silent_p.S646S	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	949	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCCCGCTCTCGGGCTCCGAGA	0.617000												
C12orf5	57103	broad.mit.edu	37	12	4460522	4460522	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:4460522C>T	uc001qmp.2	+	5	439	c.360C>T	c.(358-360)CCC>CCT	p.P120P		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	TP53-induced glycolysis and apoptosis regulator	120						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			skin(1)	1			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			TTACACCGCCCGGAGGAGAGA	0.498000												
A2ML1	144568	broad.mit.edu	37	12	9001489	9001489	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:9001489G>A	uc001quz.3	+	16	2105	c.2007G>A	c.(2005-2007)ACG>ACA	p.T669T	A2ML1_uc001qva.1_Silent_p.T249T|A2ML1_uc010sgm.1_Silent_p.T169T	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	513						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						CTGAAGGCACGGACCTTTTCA	0.507000												
PTPRO	5800	broad.mit.edu	37	12	15636953	15636953	+	Missense_Mutation	SNP	G	G	A	rs141750255		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:15636953G>A	uc001rcv.1	+	2	295	c.121G>A	c.(121-123)GTT>ATT	p.V41I	PTPRO_uc001rcw.1_Missense_Mutation_p.V41I|PTPRO_uc001rcu.1_Missense_Mutation_p.V41I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	41	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				TAATAACATCGTTGTCTCATT	0.348000												
SLCO1B1	10599	broad.mit.edu	37	12	21325709	21325709	+	Silent	SNP	C	C	T	rs148697674		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:21325709C>T	uc001req.3	+	3	314	c.210C>T	c.(208-210)GAC>GAT	p.D70D		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	70	Helical; Name=2; (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)	GTTTTATTGACGGAAGCTTTG	0.264000												
GYS2	2998	broad.mit.edu	37	12	21712082	21712082	+	Silent	SNP	G	G	A	rs139882761	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:21712082G>A	uc001rfb.2	-	10	1506	c.1251C>T	c.(1249-1251)AAC>AAT	p.N417N		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	417					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						CTAAAATATCGTTCAGGTCAG	0.328000												
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:25398284C>T	uc001rgp.1	-	2	216	c.35G>A	c.(34-36)GGT>GAT	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
IPO8	10526	broad.mit.edu	37	12	30816463	30816463	+	Silent	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:30816463A>G	uc001rjd.2	-	14	1724	c.1554T>C	c.(1552-1554)GCT>GCC	p.A518A	IPO8_uc001rje.1_Silent_p.A7A|IPO8_uc010sjt.1_Silent_p.A313A	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	518					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAGCAAGGGCAGCTTCAACTT	0.358000												
TSPAN11	441631	broad.mit.edu	37	12	31135587	31135587	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:31135587G>A	uc010sju.1	+	6	957	c.577G>A	c.(577-579)GGC>AGC	p.G193S	TSPAN11_uc001rjp.2_Missense_Mutation_p.G193S|TSPAN11_uc010sjv.1_Missense_Mutation_p.G183S	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN	tetraspanin 11	193						integral to membrane					0	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGTGCGCTGCGGCCAGCGGGC	0.672000												
C12orf72	254013	broad.mit.edu	37	12	31820818	31820818	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:31820818G>A	uc009zjr.2	+	4	892	c.683G>A	c.(682-684)AGC>AAC	p.S228N	C12orf72_uc001rkl.2_Missense_Mutation_p.S228N|C12orf72_uc001rkm.2_Missense_Mutation_p.S228N	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN	hypothetical protein LOC254013	228						cytoplasm	protein methyltransferase activity				0						AGTGGACACAGCATTCAGCAT	0.488000												
PKP2	5318	broad.mit.edu	37	12	32974415	32974415	+	Missense_Mutation	SNP	C	C	T	rs143038626		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:32974415C>T	uc001rlj.3	-	10	2135	c.2020G>A	c.(2020-2022)GTG>ATG	p.V674M	PKP2_uc001rlk.3_Missense_Mutation_p.V630M|PKP2_uc010skj.1_Missense_Mutation_p.V627M	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	674	ARM 5.				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGCCACTCCACGCCCTTGGGG	0.493000												
CACNB3	784	broad.mit.edu	37	12	49220259	49220259	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:49220259G>A	uc001rsl.1	+	10	1053	c.852G>A	c.(850-852)TCG>TCA	p.S284S	CACNB3_uc010sly.1_Silent_p.S271S|CACNB3_uc010slz.1_Silent_p.S283S|CACNB3_uc001rsk.1_Silent_p.S131S	NM_000725	NP_000716	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3	284					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0					Verapamil(DB00661)	CCAAGACCTCGCTGGCCCCCA	0.547000												
SMARCD1	6602	broad.mit.edu	37	12	50481152	50481152	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:50481152C>T	uc001rvx.3	+	5	708	c.538C>T	c.(538-540)CGG>TGG	p.R180W	SMARCD1_uc010smo.1_Missense_Mutation_p.R180W|SMARCD1_uc001rvy.3_Missense_Mutation_p.R180W|SMARCD1_uc009zlp.2_Intron	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	SWI/SNF-related matrix-associated	180	Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|Interaction with SMARCC1 and SMARCC2.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			ovary(1)	1						TCAGCAAAAACGGAAGCTGCG	0.502000												
TMPRSS12	283471	broad.mit.edu	37	12	51279034	51279034	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:51279034G>A	uc001rwx.3	+	4	705	c.658G>A	c.(658-660)GCT>ACT	p.A220T	TMPRSS12_uc001rwy.2_Missense_Mutation_p.A220T	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane protease, serine 12 precursor	220	Peptidase S1.|Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity				0						AACAGGTAACGCTACAAATAT	0.323000												
SCN8A	6334	broad.mit.edu	37	12	52200233	52200233	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:52200233G>A	uc001ryw.2	+	27	5141	c.4963G>A	c.(4963-4965)GGC>AGC	p.G1655S		NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1655	IV.|Helical; Name=S5 of repeat IV; (Potential).				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GTTCAACATCGGCCTTCTGCT	0.493000												
ACVR1B	91	broad.mit.edu	37	12	52385715	52385715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:52385715C>T	uc001rzn.2	+	8	1372	c.1330C>T	c.(1330-1332)CGA>TGA	p.R444*	ACVR1B_uc001rzm.2_Nonsense_Mutation_p.R444*|ACVR1B_uc010snn.1_Nonsense_Mutation_p.R485*	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	444	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	p.R485*(1)		pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TGAGGAAATGCGAAAGGTTGT	0.488000												
SOAT2	8435	broad.mit.edu	37	12	53516883	53516883	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:53516883C>T	uc001sbv.2	+	13	1343	c.1255C>T	c.(1255-1257)CGA>TGA	p.R419*	SOAT2_uc009zms.2_RNA	NM_003578	NP_003569	O75908	SOAT2_HUMAN	acyl-CoA:cholesterol acyltransferase 2	419					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			ovary(1)	1						TGCCCGGGCCCGAGGGGTAGC	0.542000												
HOXC12	3228	broad.mit.edu	37	12	54348881	54348881	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:54348881G>A	uc010soq.1	+	1	168	c.168G>A	c.(166-168)CCG>CCA	p.P56P		NM_173860	NP_776272	P31275	HXC12_HUMAN	homeobox C12	56					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						TGTCCTGGCCGTCGGCGGAGC	0.701000												
HOXC5	3222	broad.mit.edu	37	12	54428224	54428224	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:54428224G>A	uc001sew.2	+	2	692	c.617G>A	c.(616-618)CGC>CAC	p.R206H	HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron	NM_018953	NP_061826	Q00444	HXC5_HUMAN	homeobox C5	206	Homeobox.				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TTCCAGAACCGCAGGATGAAG	0.537000												
ZNF385A	25946	broad.mit.edu	37	12	54764440	54764440	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:54764440G>C	uc001sfw.1	-	6	1023	c.840C>G	c.(838-840)CAC>CAG	p.H280Q	ZNF385A_uc001sfv.1_Missense_Mutation_p.H261Q|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Missense_Mutation_p.H199Q|ZNF385A_uc001sfx.1_Missense_Mutation_p.H280Q|ZNF385A_uc001sfy.3_Missense_Mutation_p.H300Q|ZNF385A_uc001sfz.3_Missense_Mutation_p.H219Q	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1						TAGACTTCTTGTGACGGCTCA	0.697000											OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF385A	25946	broad.mit.edu	37	12	54764723	54764723	+	Silent	SNP	G	G	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:54764723G>C	uc001sfw.1	-	5	945	c.762C>G	c.(760-762)GTC>GTG	p.V254V	ZNF385A_uc001sfv.1_Silent_p.V235V|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Silent_p.V173V|ZNF385A_uc001sfx.1_Silent_p.V254V|ZNF385A_uc001sfy.3_Silent_p.V274V|ZNF385A_uc001sfz.3_Silent_p.V193V	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	254	Matrin-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1						GTTTCAGTTGGACCTCCGAGT	0.602000											OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF385A	25946	broad.mit.edu	37	12	54764782	54764782	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:54764782G>A	uc001sfw.1	-	5	886	c.703C>T	c.(703-705)CCT>TCT	p.P235S	ZNF385A_uc001sfv.1_Missense_Mutation_p.P216S|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Missense_Mutation_p.P154S|ZNF385A_uc001sfx.1_Missense_Mutation_p.P235S|ZNF385A_uc001sfy.3_Missense_Mutation_p.P255S|ZNF385A_uc001sfz.3_Missense_Mutation_p.P174S	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1						TCCTGGGCAGGAGCCTCTGGT	0.582000												
ZNF385A	25946	broad.mit.edu	37	12	54764831	54764831	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:54764831G>C	uc001sfw.1	-	5	837	c.654C>G	c.(652-654)ATC>ATG	p.I218M	ZNF385A_uc001sfv.1_Missense_Mutation_p.I199M|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Missense_Mutation_p.I137M|ZNF385A_uc001sfx.1_Missense_Mutation_p.I218M|ZNF385A_uc001sfy.3_Missense_Mutation_p.I238M|ZNF385A_uc001sfz.3_Missense_Mutation_p.I157M	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1						GGTAAGCTTTGATGGGCCCGA	0.582000												
ZNF385A	25946	broad.mit.edu	37	12	54765308	54765308	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:54765308G>C	uc001sfw.1	-	4	736	c.553C>G	c.(553-555)CTG>GTG	p.L185V	ZNF385A_uc001sfv.1_Missense_Mutation_p.L166V|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Missense_Mutation_p.L185V|ZNF385A_uc001sfy.3_Missense_Mutation_p.L205V|ZNF385A_uc001sfz.3_Intron	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	185	Matrin-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1						ACCTTGCACAGAGCACAGTAG	0.612000												
DCD	117159	broad.mit.edu	37	12	55038966	55038966	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:55038966C>T	uc001sgj.2	-	4	342	c.280G>A	c.(280-282)GTG>ATG	p.V94M	DCD_uc009znt.2_Missense_Mutation_p.V94M|DCD_uc009znu.2_RNA	NM_053283	NP_444513	P81605	DCD_HUMAN	dermcidin preproprotein	94					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			ovary(1)	1		Myeloproliferative disorder(1001;0.0255)				CCTTTACCCACGCTTTCTAGA	0.512000												
TIMELESS	8914	broad.mit.edu	37	12	56815753	56815753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:56815753G>A	uc001slf.2	-	21	2740	c.2572C>T	c.(2572-2574)CGA>TGA	p.R858*		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	858					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						TTGCGTGTTCGAGGAACAGTA	0.547000												
LRP1	4035	broad.mit.edu	37	12	57569406	57569406	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:57569406C>T	uc001snd.2	+	23	4177	c.3711C>T	c.(3709-3711)TGC>TGT	p.C1237C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1237	Extracellular (Potential).|EGF-like 6.				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)	GCCAAAAGTGCGACCAGAACA	0.592000											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GEFT	115557	broad.mit.edu	37	12	58009785	58009785	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:58009785C>T	uc001spb.2	+	13	1865	c.1405C>T	c.(1405-1407)CGG>TGG	p.R469W	GEFT_uc009zpy.2_Missense_Mutation_p.R508W|GEFT_uc001spa.2_Missense_Mutation_p.R363W|uc001spc.2_Intron|GEFT_uc001spd.2_Missense_Mutation_p.R174W	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	469	Sufficient to bind activated GNAQ.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					GGAGAGCCAACGGGACTTCCT	0.572000												
SLC6A15	55117	broad.mit.edu	37	12	85279797	85279797	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:85279797G>A	uc001szv.2	-	3	833	c.340C>T	c.(340-342)CTT>TTT	p.L114F	SLC6A15_uc010sul.1_Missense_Mutation_p.L7F|SLC6A15_uc001szy.2_Missense_Mutation_p.L114F	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	114	Helical; Name=2; (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						AAGAAAAAAAGGGGAATACCT	0.353000												
DCN	1634	broad.mit.edu	37	12	91550892	91550892	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:91550892G>A	uc001tbs.2	-	4	706	c.612C>T	c.(610-612)TAC>TAT	p.Y204Y	DCN_uc001tbo.2_Silent_p.Y95Y|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Silent_p.Y204Y|DCN_uc001tbu.2_Silent_p.Y204Y	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	204	LRR 6.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						CAATGCGGATGTAGGAGAGCT	0.383000												
CDK17	5128	broad.mit.edu	37	12	96682999	96682999	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:96682999C>T	uc001tep.1	-	11	1553	c.1064G>A	c.(1063-1065)CGG>CAG	p.R355Q	CDK17_uc009ztk.2_Missense_Mutation_p.R355Q|CDK17_uc010svb.1_Missense_Mutation_p.R302Q	NM_002595	NP_002586	Q00537	CDK17_HUMAN	PCTAIRE protein kinase 2	355	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						ATCAGGTGGCCGGTACCATAG	0.403000												
UTP20	27340	broad.mit.edu	37	12	101767445	101767445	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:101767445A>G	uc001tia.1	+	54	7187	c.7031A>G	c.(7030-7032)AAG>AGG	p.K2344R		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2344					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						ACGTGCAAAAAGATGGCATCC	0.428000												
CHPT1	56994	broad.mit.edu	37	12	102091823	102091823	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:102091823G>C	uc001tin.2	+	1	407	c.184G>C	c.(184-186)GCC>CCC	p.A62P	CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.A62P	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	62					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding				0						GCTCTGGATGGCCCCCAACTC	0.677000												
TMEM119	338773	broad.mit.edu	37	12	108985723	108985723	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:108985723C>G	uc001tng.2	-	2	600	c.437G>C	c.(436-438)GGC>GCC	p.G146A	TMEM119_uc001tnf.2_RNA	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	transmembrane protein 119 precursor	146	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						ggcccgggggcccccggcccg	0.567000												
ALDH2	217	broad.mit.edu	37	12	112237855	112237855	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:112237855C>T	uc001tst.2	+	11	1835	c.1394C>T	c.(1393-1395)GCG>GTG	p.A465V	ALDH2_uc010syi.1_Missense_Mutation_p.A418V|ALDH2_uc009zvy.2_Missense_Mutation_p.A389V	NM_000690	NP_000681	P05091	ALDH2_HUMAN	mitochondrial aldehyde dehydrogenase 2	465					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity			skin(2)|ovary(1)|central_nervous_system(1)	4					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	GCCCTCCAGGCGGGCACTGTG	0.572000			T	HMGA2	leiomyoma							
OAS3	4940	broad.mit.edu	37	12	113382430	113382430	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:113382430T>G	uc001tug.2	+	3	697	c.610T>G	c.(610-612)TTG>GTG	p.L204V	OAS3_uc001tuf.2_Missense_Mutation_p.L204V	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	204	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						GAACCTAATCTTGCTGGTGAA	0.517000												
LHX5	64211	broad.mit.edu	37	12	113907091	113907091	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:113907091C>T	uc001tvj.1	-	2	807	c.233G>A	c.(232-234)CGC>CAC	p.R78H		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	78	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCGGGCCTTGCGCACCAGGTC	0.597000												
TBX3	6926	broad.mit.edu	37	12	115120667	115120667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:115120667C>T	uc001tvt.1	-	1	1303	c.339G>A	c.(337-339)TGG>TGA	p.W113*	TBX3_uc001tvu.1_Nonsense_Mutation_p.W113*|TBX3_uc010syw.1_Nonsense_Mutation_p.W113*	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	113	T-box; first part.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GAAACTGATCCCAAAGTTCTT	0.582000												
WSB2	55884	broad.mit.edu	37	12	118474278	118474278	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:118474278C>T	uc001twr.2	-	6	796	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	WSB2_uc010sza.1_Missense_Mutation_p.R8Q|WSB2_uc010szb.1_Missense_Mutation_p.R23Q|WSB2_uc009zws.1_Missense_Mutation_p.R233Q	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	233	WD 3.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCTAGCTTCCGAATTAACGT	0.498000												
TAOK3	51347	broad.mit.edu	37	12	118682752	118682752	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:118682752T>C	uc001twx.2	-	4	434	c.139A>G	c.(139-141)AGT>GGT	p.S47G	TAOK3_uc001twy.3_Missense_Mutation_p.S47G	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	47	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCACCTCACTGGTGTGAGCA	0.368000												
CIT	11113	broad.mit.edu	37	12	120148366	120148366	+	Silent	SNP	G	G	A	rs144367821		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:120148366G>A	uc001txi.1	-	37	4841	c.4788C>T	c.(4786-4788)TGC>TGT	p.C1596C	CIT_uc001txh.1_Silent_p.C1115C|CIT_uc001txj.1_Silent_p.C1638C	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1596	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGGGCAGCGTGCAGTTCATGT	0.502000												
GCN1L1	10985	broad.mit.edu	37	12	120589077	120589077	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:120589077C>T	uc001txo.2	-	34	4194	c.4181G>A	c.(4180-4182)CGC>CAC	p.R1394H		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1394					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCCCTTTGCGCTCTGCGTA	0.607000												
ACADS	35	broad.mit.edu	37	12	121176396	121176396	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:121176396G>A	uc001tza.3	+	7	974	c.856G>A	c.(856-858)GCC>ACC	p.A286T	ACADS_uc010szl.1_Missense_Mutation_p.A282T|ACADS_uc001tzb.3_Intron	NM_000017	NP_000008	P16219	ACADS_HUMAN	short-chain acyl-CoA dehydrogenase precursor	286						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(2)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	TGCCCAGACCGCCCTCGATTG	0.662000												
MPHOSPH9	10198	broad.mit.edu	37	12	123705999	123705999	+	Silent	SNP	T	T	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:123705999T>A	uc001uel.2	-	1	443	c.336A>T	c.(334-336)GTA>GTT	p.V112V	MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_5'UTR	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	112					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GAGAAATGGATACATCTTCCT	0.363000												
GPR133	283383	broad.mit.edu	37	12	131476850	131476850	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:131476850C>T	uc001uit.3	+	8	1438	c.879C>T	c.(877-879)CCC>CCT	p.P293P	GPR133_uc010tbm.1_Silent_p.P325P	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	293	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCAAAGTCCCGGAGTGATAC	0.458000												
GPR133	283383	broad.mit.edu	37	12	131487801	131487801	+	Silent	SNP	C	C	T	rs148751019		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:131487801C>T	uc001uit.3	+	10	1657	c.1098C>T	c.(1096-1098)CAC>CAT	p.H366H	GPR133_uc010tbm.1_Silent_p.H398H	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	366	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCAACCTGCACGGCAGCACGC	0.627000												
ULK1	8408	broad.mit.edu	37	12	132395332	132395332	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:132395332T>C	uc001uje.2	+	12	1203	c.935T>C	c.(934-936)CTG>CCG	p.L312P		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	312	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACCTCCCACCTGGCCTCCCCG	0.692000												
ANKLE2	23141	broad.mit.edu	37	12	133304695	133304695	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:133304695G>A	uc001ukx.2	-	12	2605	c.2538C>T	c.(2536-2538)GAC>GAT	p.D846D	ANKLE2_uc009zyw.1_Silent_p.D201D	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	846						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)		GGGGGTCGACGTCTGCACATT	0.512000												
C1QTNF9B	387911	broad.mit.edu	37	13	24465898	24465898	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:24465898G>A	uc010tcw.1	-	3	532	c.532C>T	c.(532-534)CGG>TGG	p.R178W	MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_Missense_Mutation_p.R51Q|PCOTH_uc009zzx.2_Missense_Mutation_p.R60Q|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Missense_Mutation_p.R178W	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	178	Collagen-like 3.					collagen					0						CTTATTCCCCGGACTCCTGGC	0.582000												
FAM123A	219287	broad.mit.edu	37	13	25745468	25745468	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:25745468G>A	uc001uqb.2	-	1	390	c.290C>T	c.(289-291)CCG>CTG	p.P97L	FAM123A_uc001uqa.2_Missense_Mutation_p.P97L|FAM123A_uc001uqc.2_Missense_Mutation_p.P97L	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	97	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGCCCCGTCGGACCCGAGCT	0.517000												
N4BP2L2	10443	broad.mit.edu	37	13	33017425	33017425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:33017425G>A	uc010abe.1	-	7	1271	c.1249C>T	c.(1249-1251)CAA>TAA	p.Q417*	N4BP2L2_uc001uug.2_Nonsense_Mutation_p.Q300*|N4BP2L2_uc010abd.1_Nonsense_Mutation_p.Q330*|N4BP2L2_uc001uuh.2_Nonsense_Mutation_p.Q248*|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Nonsense_Mutation_p.Q402*	NM_033111	NP_149102	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	Error:Variant_position_missing_in_Q92802_after_alignment											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TGAATCCATTGCCCCCTGCTG	0.423000												
KIAA0564	23078	broad.mit.edu	37	13	42189137	42189137	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:42189137G>A	uc001uyj.2	-	38	4765	c.4695C>T	c.(4693-4695)GGC>GGT	p.G1565G		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1565						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		AAGTGTTGCCGCCCACGTGAG	0.537000												
LCP1	3936	broad.mit.edu	37	13	46705004	46705004	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:46705004A>G	uc001vaz.3	-	15	1822	c.1696T>C	c.(1696-1698)TAT>CAT	p.Y566H	LCP1_uc010ack.2_Missense_Mutation_p.Y135H|LCP1_uc001vay.3_Missense_Mutation_p.Y163H|LCP1_uc001vba.3_Missense_Mutation_p.Y566H	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	566	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05)		AGAAGGTCATAGTTAATGGAA	0.428000			T	BCL6	NHL 							
LRCH1	23143	broad.mit.edu	37	13	47315868	47315868	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:47315868C>T	uc001vbj.2	+	19	2308	c.2072C>T	c.(2071-2073)GCC>GTC	p.A691V	LRCH1_uc001vbk.2_Missense_Mutation_p.A726V|LRCH1_uc001vbl.3_Intron	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	691										ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GGGGAGAAAGCCCCACCACCA	0.502000												
PCDH8	5100	broad.mit.edu	37	13	53421242	53421242	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:53421242C>T	uc001vhi.2	-	1	1533	c.1330G>A	c.(1330-1332)GCG>ACG	p.A444T	PCDH8_uc001vhj.2_Missense_Mutation_p.A444T	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	444	Extracellular (Potential).|Cadherin 4.				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)		TAGCTGCCCGCGTAGGCCGGC	0.716000												
PCDH9	5101	broad.mit.edu	37	13	67801679	67801679	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:67801679T>C	uc001vik.2	-	2	1586	c.894A>G	c.(892-894)GCA>GCG	p.A298A	PCDH9_uc001vil.2_Silent_p.A298A|PCDH9_uc010thl.1_Silent_p.A298A|PCDH9_uc001vin.3_Silent_p.A298A	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	298	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTCTTTTGGTTGCAGGGGCGA	0.468000												
MYCBP2	23077	broad.mit.edu	37	13	77754337	77754337	+	Silent	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:77754337G>T	uc001vkf.2	-	35	5035	c.4944C>A	c.(4942-4944)TCC>TCA	p.S1648S	MYCBP2_uc010aev.2_Silent_p.S1052S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGACGAGGTGGGAGGAGAAGA	0.483000												
C13orf39	196541	broad.mit.edu	37	13	103339401	103339401	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:103339401C>A	uc001vpj.2	-	3	295	c.289G>T	c.(289-291)GCT>TCT	p.A97S	C13orf39_uc001vpk.2_Missense_Mutation_p.A97S	NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	hypothetical protein LOC196541	97							methyltransferase activity				0						TGACACAAAGCCATAGCCTAA	0.393000												
SLC10A2	6555	broad.mit.edu	37	13	103703660	103703660	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:103703660C>T	uc001vpy.3	-	4	1305	c.708G>A	c.(706-708)GCG>GCA	p.A236A		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	236	Helical; (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)|skin(1)	4	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGGAGTAACCCGCCACAGGAA	0.433000												
FAM155A	728215	broad.mit.edu	37	13	107822911	107822911	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:107822911C>A	uc001vql.2	-	3	1827	c.1311G>T	c.(1309-1311)CAG>CAT	p.Q437H		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	437	Helical; (Potential).					integral to membrane	binding			skin(1)	1						CGGCTGTGTTCTGTGCTGCCG	0.517000												
MYO16	23026	broad.mit.edu	37	13	109661297	109661297	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:109661297T>C	uc001vqt.1	+	22	2555	c.2429T>C	c.(2428-2430)CTT>CCT	p.L810P	MYO16_uc010agk.1_Missense_Mutation_p.L832P|MYO16_uc001vqu.1_Missense_Mutation_p.L610P|MYO16_uc010tjh.1_Missense_Mutation_p.L322P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	810	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AATGAAGTGCTTTTTCTCCAC	0.378000												
SLC39A2	29986	broad.mit.edu	37	14	21469346	21469346	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:21469346G>T	uc001vyr.2	+	4	725	c.538G>T	c.(538-540)GGG>TGG	p.G180W	SLC39A2_uc001vys.2_Missense_Mutation_p.G81W	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter),	180	Helical; (Potential).					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			ovary(2)|central_nervous_system(1)	3	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;0.0187)		AGTGTTTGAAGGGCTAGCTGT	0.567000												
HNRNPC	3183	broad.mit.edu	37	14	21681143	21681143	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:21681143G>A	uc001vzy.2	-	6	782	c.538C>T	c.(538-540)CGG>TGG	p.R180W	HNRNPC_uc001vzw.2_Missense_Mutation_p.R167W|HNRNPC_uc001wad.2_Missense_Mutation_p.R100W|HNRNPC_uc001vzx.2_Intron|HNRNPC_uc001vzz.2_Missense_Mutation_p.R167W|HNRNPC_uc001waa.2_Missense_Mutation_p.R180W|HNRNPC_uc010ail.2_Missense_Mutation_p.R180W|HNRNPC_uc010tlq.1_RNA|HNRNPC_uc001wab.2_Missense_Mutation_p.R167W|HNRNPC_uc001wac.2_Intron|HNRNPC_uc010tlr.1_Missense_Mutation_p.R45W|HNRNPC_uc001waf.2_Missense_Mutation_p.R167W|HNRNPC_uc001wae.2_Missense_Mutation_p.R167W	NM_031314	NP_112604	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C	180						catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding				0	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GAAGATCCCCGCTGTCCACTC	0.428000												
MYH6	4624	broad.mit.edu	37	14	23853917	23853917	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:23853917T>C	uc001wjv.2	-	36	5366	c.5299A>G	c.(5299-5301)ATG>GTG	p.M1767V		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1767	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTCTGCCATCATGGCGGCC	0.612000												
MYH6	4624	broad.mit.edu	37	14	23858161	23858161	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:23858161C>T	uc001wjv.2	-	29	4149	c.4082G>A	c.(4081-4083)CGC>CAC	p.R1361H	uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1361	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGACAGGACGCGCTGCAGCTC	0.642000												
PSME1	5720	broad.mit.edu	37	14	24606965	24606965	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:24606965T>G	uc001wmg.2	+	6	443	c.349T>G	c.(349-351)TTG>GTG	p.L117V	PSME1_uc001wmh.2_Missense_Mutation_p.L117V	NM_006263	NP_006254	Q06323	PSME1_HUMAN	proteasome activator subunit 1 isoform 1	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00831)		TCTGCAGCGCTTGAAGCCTGA	0.517000												
FOXG1	2290	broad.mit.edu	37	14	29237784	29237784	+	Silent	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:29237784C>A	uc001wqe.2	+	1	1498	c.1299C>A	c.(1297-1299)TCC>TCA	p.S433S		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	433					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCAGCACGTCCATGAGCGCCA	0.632000												
FAM179B	23116	broad.mit.edu	37	14	45432820	45432820	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:45432820T>C	uc001wvv.2	+	1	1405	c.1196T>C	c.(1195-1197)CTA>CCA	p.L399P	FAM179B_uc001wvw.2_Missense_Mutation_p.L399P|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.L399P|FAM179B_uc001wvu.2_Missense_Mutation_p.L399P	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	399	HEAT 2.						binding			skin(2)|upper_aerodigestive_tract(1)	3						ATTAGTTTGCTATATAATTTG	0.438000												
DACT1	51339	broad.mit.edu	37	14	59112499	59112499	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:59112499G>T	uc001xdw.2	+	4	1322	c.1158G>T	c.(1156-1158)CAG>CAT	p.Q386H	DACT1_uc010trv.1_Missense_Mutation_p.Q105H|DACT1_uc001xdx.2_Missense_Mutation_p.Q349H|DACT1_uc010trw.1_Missense_Mutation_p.Q105H	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	386					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						GTGTCTCACAGGGCAACAGTG	0.557000												
SIX1	6495	broad.mit.edu	37	14	61115476	61115476	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:61115476C>T	uc001xfb.3	-	1	680	c.432G>A	c.(430-432)GCG>GCA	p.A144A		NM_005982	NP_005973	Q15475	SIX1_HUMAN	SIX homeobox 1	144	Homeobox.				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		AGGGATTGTGCGCGTACCACT	0.627000												
SYNE2	23224	broad.mit.edu	37	14	64465745	64465745	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:64465745T>C	uc001xgm.2	+	27	3697	c.3467T>C	c.(3466-3468)CTG>CCG	p.L1156P	SYNE2_uc001xgl.2_Missense_Mutation_p.L1156P	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1156	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)		CAGGCTAAACTGACAGATCTA	0.363000												
SYNE2	23224	broad.mit.edu	37	14	64644169	64644169	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:64644169G>A	uc001xgm.2	+	96	17754	c.17524G>A	c.(17524-17526)GAG>AAG	p.E5842K	SYNE2_uc001xgl.2_Missense_Mutation_p.E5842K|SYNE2_uc010apy.2_Missense_Mutation_p.E2227K|SYNE2_uc001xgn.2_Missense_Mutation_p.E804K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_Missense_Mutation_p.E207K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5842	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)		AGAGCTTCACGAGGACCTCCA	0.408000												
SYNE2	23224	broad.mit.edu	37	14	64692078	64692078	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:64692078G>A	uc001xgm.2	+	115	20722	c.20492G>A	c.(20491-20493)AGG>AAG	p.R6831K	SYNE2_uc001xgl.2_Missense_Mutation_p.R6853K|SYNE2_uc010apy.2_Missense_Mutation_p.R3216K|SYNE2_uc001xgn.2_Missense_Mutation_p.R1792K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.R801K|SYNE2_uc001xgq.2_Missense_Mutation_p.R1210K|SYNE2_uc001xgr.2_Missense_Mutation_p.R614K|SYNE2_uc010tsi.1_Missense_Mutation_p.R488K|SYNE2_uc001xgs.2_Missense_Mutation_p.R502K|SYNE2_uc001xgt.2_Missense_Mutation_p.R375K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6831	Cytoplasmic (Potential).|KASH.				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)		TTCCTCTCAAGGGTGGTCCGG	0.483000												
SPTB	6710	broad.mit.edu	37	14	65252572	65252572	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:65252572T>C	uc001xht.2	-	16	3713	c.3659A>G	c.(3658-3660)AAC>AGC	p.N1220S	SPTB_uc001xhr.2_Missense_Mutation_p.N1220S|SPTB_uc001xhs.2_Missense_Mutation_p.N1220S|SPTB_uc001xhu.2_Missense_Mutation_p.N1220S	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1220	Spectrin 9.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTTATCCCGGTTGTTCTCCAT	0.522000												
FUT8	2530	broad.mit.edu	37	14	66136109	66136109	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:66136109G>A	uc001xin.2	+	7	1943	c.746G>A	c.(745-747)CGC>CAC	p.R249H	FUT8_uc001xio.2_Missense_Mutation_p.R249H|FUT8_uc010tsp.1_Missense_Mutation_p.R86H|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.R249H|FUT8_uc001xiq.2_Missense_Mutation_p.R120H|FUT8_uc001xis.2_5'Flank	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	249	Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CAGAATTGGCGCTATGCTACT	0.498000												
GPHN	10243	broad.mit.edu	37	14	67576930	67576930	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:67576930C>T	uc001xiy.2	+	13	2389	c.1268C>T	c.(1267-1269)GCA>GTA	p.A423V	GPHN_uc001xix.2_Missense_Mutation_p.A456V|GPHN_uc010tss.1_Missense_Mutation_p.A469V|GPHN_uc010tst.1_Missense_Mutation_p.A392V|GPHN_uc010tsu.1_Missense_Mutation_p.A346V	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	423	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)		GGTGCTGATGCAGTAGTACAA	0.443000			T	MLL	AL							
RGS6	9628	broad.mit.edu	37	14	72976872	72976872	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:72976872A>G	uc001xna.3	+	14	1499	c.976A>G	c.(976-978)AGC>GGC	p.S326G	RGS6_uc010ttn.1_Missense_Mutation_p.S326G|RGS6_uc001xmx.3_Missense_Mutation_p.S326G|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.S326G|RGS6_uc010ttp.1_Missense_Mutation_p.S257G|RGS6_uc001xmz.1_Missense_Mutation_p.S187G	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	326	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAAAGAGCCCAGCCAACAGCG	0.463000												
FLRT2	23768	broad.mit.edu	37	14	86089465	86089465	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:86089465G>A	uc001xvr.2	+	2	2374	c.1607G>A	c.(1606-1608)AGC>AAC	p.S536N	FLRT2_uc010atd.2_Missense_Mutation_p.S536N	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	536	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACGTCCCACAGCATGGGCTCC	0.572000												
KCNK13	56659	broad.mit.edu	37	14	90651177	90651177	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:90651177C>T	uc001xye.1	+	2	1499	c.1057C>T	c.(1057-1059)CTG>TTG	p.L353L		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	353	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				GAAGGACTTGCTGGCAGCCAA	0.617000												
CCDC88C	440193	broad.mit.edu	37	14	91770229	91770229	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:91770229C>T	uc010aty.2	-	20	3550	c.3451G>A	c.(3451-3453)GAA>AAA	p.E1151K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1151	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)				TGCAGGCTTTCGTTCTCCGTC	0.652000												
CCDC88C	440193	broad.mit.edu	37	14	91779971	91779971	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:91779971T>C	uc010aty.2	-	15	2288	c.2189A>G	c.(2188-2190)AAC>AGC	p.N730S		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	730	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)				CAGCTGCTGGTTCTCCCTCTC	0.607000												
TRIP11	9321	broad.mit.edu	37	14	92472038	92472038	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:92472038T>C	uc001xzy.2	-	11	3070	c.2282A>G	c.(2281-2283)CAT>CGT	p.H761R	TRIP11_uc010auf.1_Missense_Mutation_p.H497R	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	761	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		TAAATGCTCATGTTCCAGCTG	0.348000			T	PDGFRB	AML							
ITPK1	3705	broad.mit.edu	37	14	93424683	93424683	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:93424683A>C	uc001ybg.2	-	8	822	c.533T>G	c.(532-534)CTG>CGG	p.L178R	ITPK1_uc001ybe.2_Missense_Mutation_p.L178R|ITPK1_uc001ybf.2_Missense_Mutation_p.L59R|ITPK1_uc001ybh.2_Missense_Mutation_p.L178R	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	inositol 1,3,4-triphosphate 5/6 kinase isoform	178	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding				0		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GATGGCGTTCAGGCCCTCCTG	0.557000												
FAM181A	90050	broad.mit.edu	37	14	94395175	94395175	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:94395175A>G	uc001ybz.1	+	3	1037	c.730A>G	c.(730-732)ACC>GCC	p.T244A	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Missense_Mutation_p.T182A|FAM181A_uc001yca.1_Missense_Mutation_p.T182A	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	244											0						ACCTGAGACTACCCTGGTGTC	0.627000												
C14orf49	161176	broad.mit.edu	37	14	95922000	95922000	+	Missense_Mutation	SNP	G	G	A	rs143391386		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:95922000G>A	uc001yei.3	-	5	866	c.851C>T	c.(850-852)GCG>GTG	p.A284V	C14orf49_uc010avi.2_Missense_Mutation_p.A284V|C14orf49_uc001yej.1_Missense_Mutation_p.A284V	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	284	Spectrin 1.|Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		AATGACACCCGCAGACTGCTC	0.567000												
EML1	2009	broad.mit.edu	37	14	100363543	100363543	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:100363543G>A	uc001ygs.2	+	7	808	c.739G>A	c.(739-741)GTC>ATC	p.V247I	EML1_uc010avt.1_Missense_Mutation_p.V234I|EML1_uc010tww.1_Missense_Mutation_p.V235I|EML1_uc001ygq.2_Missense_Mutation_p.V266I|EML1_uc001ygr.2_Missense_Mutation_p.V266I	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	247						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GGGAGAGACCGTCTACTTCAT	0.488000												
CDC42BPB	9578	broad.mit.edu	37	14	103430922	103430922	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:103430922C>T	uc001ymi.1	-	19	2875	c.2643G>A	c.(2641-2643)TCG>TCA	p.S881S	CDC42BPB_uc001ymj.1_Silent_p.S9S	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	881	Potential.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTCCAGGGCCGACTGCAGCT	0.607000												
HERC2	8924	broad.mit.edu	37	15	28408263	28408263	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:28408263C>T	uc001zbj.2	-	69	10829	c.10723G>A	c.(10723-10725)GGC>AGC	p.G3575S		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3575					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCCCCATGCCGGAAAGCACC	0.647000												
HERC2	8924	broad.mit.edu	37	15	28437159	28437159	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:28437159C>T	uc001zbj.2	-	53	8505	c.8399G>A	c.(8398-8400)CGT>CAT	p.R2800H	HERC2_uc001zbk.1_Missense_Mutation_p.R335H	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2800	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCAATGAGACGGGATGCCTG	0.597000											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CHRNA7	1139	broad.mit.edu	37	15	32460269	32460269	+	Silent	SNP	C	C	T	rs150888391		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:32460269C>T	uc001zft.2	+	10	1191	c.1119C>T	c.(1117-1119)GCC>GCT	p.A373A	uc001zfv.1_Intron|CHRNA7_uc010baf.2_Silent_p.A192A|CHRNA7_uc010bak.2_Silent_p.A288A	NM_000746	NP_000737	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7	373	Cytoplasmic (Potential).				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			ovary(1)	1		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	AGATGAGCGCCGTGGCGCCGC	0.701000												
MEIS2	4212	broad.mit.edu	37	15	37184485	37184485	+	Silent	SNP	G	G	A	rs139991974		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:37184485G>A	uc001zjr.2	-	12	2360	c.1323C>T	c.(1321-1323)CAC>CAT	p.H441H	MEIS2_uc001zjl.2_3'UTR|MEIS2_uc010ucj.1_Silent_p.H421H|MEIS2_uc001zjm.2_3'UTR|MEIS2_uc001zjn.2_3'UTR|MEIS2_uc001zjo.2_3'UTR|MEIS2_uc001zjp.2_3'UTR|MEIS2_uc001zjs.2_Silent_p.H434H|MEIS2_uc001zju.2_3'UTR|MEIS2_uc001zjt.2_Silent_p.H434H|MEIS2_uc001zjj.2_Silent_p.H137H|MEIS2_uc001zjk.2_Silent_p.H130H	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	441					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGGGTCCTCCGTGCATCATCA	0.522000												
SPRED1	161742	broad.mit.edu	37	15	38614539	38614539	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:38614539C>T	uc001zka.3	+	3	640	c.305C>T	c.(304-306)ACG>ATG	p.T102M		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	102	WH1.				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)		TTTGGTCTTACGTTTCAAAGT	0.368000									Legius_syndrome			
EIF2AK4	440275	broad.mit.edu	37	15	40322596	40322596	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:40322596T>C	uc001zkm.1	+	35	4648	c.4598T>C	c.(4597-4599)ATT>ACT	p.I1533T	EIF2AK4_uc010bbj.1_Missense_Mutation_p.I1234T|EIF2AK4_uc001zkn.1_Missense_Mutation_p.I633T|EIF2AK4_uc001zko.1_Missense_Mutation_p.I414T|EIF2AK4_uc010bbk.1_RNA	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	1533					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GTGGTTCCCATTGTGAGTGTG	0.468000											OREG0023054	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CASC5	57082	broad.mit.edu	37	15	40937929	40937929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:40937929G>T	uc010bbs.1	+	17	6204	c.6043G>T	c.(6043-6045)GGA>TGA	p.G2015*	CASC5_uc010bbt.1_Nonsense_Mutation_p.G1989*	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	2015	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.|Potential.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CACTCACCAAGGAAAAGTGGC	0.363000												
MAPKBP1	23005	broad.mit.edu	37	15	42106789	42106789	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:42106789C>T	uc001zok.3	+	11	1326	c.1040C>T	c.(1039-1041)ACC>ATC	p.T347I	MAPKBP1_uc001zoj.3_Missense_Mutation_p.T341I|MAPKBP1_uc010bcj.2_Intron|MAPKBP1_uc010bci.2_Missense_Mutation_p.T341I|MAPKBP1_uc010udb.1_Missense_Mutation_p.T229I|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Intron	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	347	WD 5.									central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TATCCAGACACCATTGCCTTG	0.498000												
MAPKBP1	23005	broad.mit.edu	37	15	42111819	42111819	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:42111819C>T	uc001zok.3	+	23	2756	c.2470C>T	c.(2470-2472)CGA>TGA	p.R824*	MAPKBP1_uc001zoj.3_Nonsense_Mutation_p.R818*|MAPKBP1_uc010bcj.2_Nonsense_Mutation_p.R325*|MAPKBP1_uc010bci.2_Nonsense_Mutation_p.R818*|MAPKBP1_uc010udb.1_Nonsense_Mutation_p.R657*|MAPKBP1_uc010bck.2_Nonsense_Mutation_p.R35*|MAPKBP1_uc010bcl.2_Nonsense_Mutation_p.R325*	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	824										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGCTTTGCCCCGAAGCCTGTC	0.612000												
SPTBN5	51332	broad.mit.edu	37	15	42150833	42150833	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:42150833G>A	uc001zos.2	-	49	8421	c.8088C>T	c.(8086-8088)GAC>GAT	p.D2696D		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2731	Spectrin 24.				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)		GCATGCTCGCGTCCAGCTCCG	0.617000												
UBR1	197131	broad.mit.edu	37	15	43317086	43317086	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:43317086C>T	uc001zqq.2	-	25	2746	c.2680G>A	c.(2680-2682)GTA>ATA	p.V894I	UBR1_uc010udk.1_Missense_Mutation_p.V894I	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	894					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CGCTCAAATACGGTCCTGAGA	0.433000												
GLDN	342035	broad.mit.edu	37	15	51634200	51634200	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:51634200G>A	uc002aba.2	+	1	488	c.319G>A	c.(319-321)GAG>AAG	p.E107K	GLDN_uc010bez.1_Missense_Mutation_p.E107K	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	107	Extracellular (Potential).				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TATCCGCGCCGAGAGCCATGA	0.721000												
WDR72	256764	broad.mit.edu	37	15	54025291	54025291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:54025291C>T	uc002acj.2	-	2	98	c.56G>A	c.(55-57)AGC>AAC	p.S19N	WDR72_uc010bfi.1_Missense_Mutation_p.S19N	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	19	WD 1.									lung(1)|skin(1)	2				all cancers(107;0.0511)		GGCAGTGATGCTGTGGGGAGG	0.512000												
UNC13C	440279	broad.mit.edu	37	15	54307129	54307129	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:54307129G>A	uc002ack.2	+	1	2029	c.2029G>A	c.(2029-2031)GAT>AAT	p.D677N		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	677					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAAGGTTTTGATTATGAAAC	0.403000												
SLTM	79811	broad.mit.edu	37	15	59180672	59180672	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:59180672G>A	uc002afp.2	-	17	2375	c.2287C>T	c.(2287-2289)CGC>TGC	p.R763C	SLTM_uc002afn.2_Missense_Mutation_p.R305C|SLTM_uc002afo.2_Missense_Mutation_p.R745C|SLTM_uc002afq.2_Missense_Mutation_p.R332C|SLTM_uc010bgd.2_Missense_Mutation_p.R332C	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	763	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TTCTGTTGGCGAGAGTAGTCG	0.428000												
USP3	9960	broad.mit.edu	37	15	63882887	63882887	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:63882887C>T	uc002amf.2	+	15	1554	c.1425C>T	c.(1423-1425)TAC>TAT	p.Y475Y	USP3_uc002amg.2_Silent_p.Y390Y|USP3_uc002amh.2_Silent_p.Y453Y|USP3_uc010uij.1_Silent_p.Y431Y|USP3_uc010uik.1_Silent_p.Y226Y|USP3_uc010bgs.2_Silent_p.Y458Y|USP3_uc002ami.2_Silent_p.Y306Y|uc002amj.2_Intron|uc002amk.2_Intron|uc002aml.2_Intron	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3	475					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)		ACACAGCATACGCAACTCACG	0.443000												
DIS3L	115752	broad.mit.edu	37	15	66607413	66607413	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:66607413G>A	uc010ujm.1	+	7	869	c.854G>A	c.(853-855)CGA>CAA	p.R285Q	DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_Missense_Mutation_p.R202Q|DIS3L_uc002apq.2_Missense_Mutation_p.R285Q|DIS3L_uc010bho.2_Missense_Mutation_p.R151Q	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	285					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						ATGAAGGCTCGAAACCGCTCA	0.483000												
PML	5371	broad.mit.edu	37	15	74337044	74337044	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:74337044C>T	uc002awv.2	+	9	2484	c.2344C>T	c.(2344-2346)CAG>TAG	p.Q782*	PML_uc002awu.2_Nonsense_Mutation_p.Q734*|PML_uc010ule.1_Nonsense_Mutation_p.Q343*	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	782					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						TGCCTCCCTGCAGCCCCTGGT	0.682000			T	RARA|PAX5	APL|ALL							
KIAA1199	57214	broad.mit.edu	37	15	81234667	81234667	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:81234667G>A	uc002bfw.1	+	26	3948	c.3688G>A	c.(3688-3690)GCT>ACT	p.A1230T	KIAA1199_uc010unn.1_Missense_Mutation_p.A1230T	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1230										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						GAACGACTTCGCTTACATTGA	0.478000												
TMC3	342125	broad.mit.edu	37	15	81627235	81627235	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:81627235G>A	uc002bgo.1	-	21	2285	c.2285C>T	c.(2284-2286)TCG>TTG	p.S762L	TMC3_uc010blr.1_RNA	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	762	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2						GGGTGTGCCCGAGTGCGCTGA	0.587000												
DET1	55070	broad.mit.edu	37	15	89074847	89074847	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:89074847G>A	uc002bmr.2	-	2	242	c.90C>T	c.(88-90)GGC>GGT	p.G30G	DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Silent_p.G41G	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	de-etiolated 1 isoform 2	30						nucleus				lung(1)|pancreas(1)	2	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TACCTGCCTTGCCTGAACTGA	0.478000												
IQGAP1	8826	broad.mit.edu	37	15	91040462	91040462	+	Splice_Site	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:91040462A>G	uc002bpl.1	+	37	4853	c.4752_splice	c.e37-2	p.Q1584_splice	IQGAP1_uc010uqg.1_Splice_Site_p.Q205_splice	NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1						energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATCTTTCAACAGGTTTAAAAA	0.328000												
MCTP2	55784	broad.mit.edu	37	15	94901733	94901733	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:94901733C>T	uc002btj.2	+	9	1258	c.1193C>T	c.(1192-1194)CCG>CTG	p.P398L	MCTP2_uc010urg.1_Intron|MCTP2_uc002bti.2_Missense_Mutation_p.P398L|MCTP2_uc010boj.2_Missense_Mutation_p.P127L|MCTP2_uc010bok.2_Missense_Mutation_p.P398L|MCTP2_uc002btk.3_Intron|MCTP2_uc002btl.2_Intron	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	398	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGTGCAAATCCGCAGTGGCAG	0.378000												
MEF2A	4205	broad.mit.edu	37	15	100250898	100250898	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:100250898C>T	uc010urw.1	+	10	1434	c.1075C>T	c.(1075-1077)CTG>TTG	p.L359L	MEF2A_uc010urv.1_Silent_p.L289L|MEF2A_uc010bos.2_Silent_p.L349L|MEF2A_uc002bvf.2_Silent_p.L351L|MEF2A_uc002bve.2_Silent_p.L357L|MEF2A_uc002bvg.2_Silent_p.L349L|MEF2A_uc002bvi.2_Silent_p.L349L|MEF2A_uc010bot.2_Silent_p.L281L	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A isoform 1	359					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			ovary(1)	1	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GCCAGGAATGCTGTCGCTGGG	0.527000												
RHOT2	89941	broad.mit.edu	37	16	720944	720944	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:720944C>T	uc002cip.2	+	10	759	c.692C>T	c.(691-693)ACG>ATG	p.T231M	RHOT2_uc002ciq.2_Missense_Mutation_p.T124M|RHOT2_uc010bqy.2_Translation_Start_Site	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	231	Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)				GACGTGAAGACGGTGGTGTGC	0.697000												
CCDC78	124093	broad.mit.edu	37	16	773012	773012	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:773012T>C	uc002cjg.2	-	13	1313	c.1207A>G	c.(1207-1209)AAC>GAC	p.N403D	CCDC78_uc002cjf.2_Missense_Mutation_p.E253G|CCDC78_uc002cji.3_3'UTR|CCDC78_uc002cjj.3_3'UTR|CCDC78_uc002cjh.2_Missense_Mutation_p.E163G	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	403										central_nervous_system(1)	1		Hepatocellular(780;0.0218)				CCGCTCCCGTTCCAGCTCTGC	0.647000												
MAPK8IP3	23162	broad.mit.edu	37	16	1817234	1817234	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:1817234A>G	uc002cmk.2	+	26	3290	c.3170A>G	c.(3169-3171)GAC>GGC	p.D1057G	MAPK8IP3_uc002cml.2_Missense_Mutation_p.D1051G|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.D1058G	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1057					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						GTTGTGTACGACCGCGTGTGG	0.632000												
C16orf73	254528	broad.mit.edu	37	16	1889367	1889367	+	Missense_Mutation	SNP	A	A	C	rs145222212		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:1889367A>C	uc002cne.2	-	12	1225	c.1107T>G	c.(1105-1107)TTT>TTG	p.F369L	FAHD1_uc002cnd.2_3'UTR|FAHD1_uc010brz.2_3'UTR|C16orf73_uc010uvq.1_Missense_Mutation_p.F369L|C16orf73_uc010uvr.1_Missense_Mutation_p.F162L	NM_152764	NP_689977	Q8N635	CP073_HUMAN	hypothetical protein LOC254528 isoform 2	369					meiosis	cytoplasm					0						AGACAGATTTAAAGTCCAAGG	0.393000												
E4F1	1877	broad.mit.edu	37	16	2285460	2285460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:2285460C>T	uc002cpm.2	+	14	2290	c.2242C>T	c.(2242-2244)CAG>TAG	p.Q748*	E4F1_uc010bsi.2_3'UTR|E4F1_uc010bsj.2_Nonsense_Mutation_p.Q571*|DNASE1L2_uc002cpn.2_5'Flank|DNASE1L2_uc002cpo.2_5'Flank|DNASE1L2_uc002cpp.2_5'Flank|DNASE1L2_uc002cpq.2_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	748					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						TGGCACTGAACAGGCCACTGT	0.657000												
A2BP1	54715	broad.mit.edu	37	16	7645563	7645563	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:7645563G>A	uc002cys.2	+	8	1469	c.481G>A	c.(481-483)GTA>ATA	p.V161I	A2BP1_uc010buf.1_Missense_Mutation_p.V161I|A2BP1_uc002cyr.1_Missense_Mutation_p.V160I|A2BP1_uc002cyt.2_Missense_Mutation_p.V161I|A2BP1_uc010uxz.1_Missense_Mutation_p.V204I|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Missense_Mutation_p.V161I|A2BP1_uc010uyb.1_Missense_Mutation_p.V161I|A2BP1_uc002cyw.2_Missense_Mutation_p.V181I|A2BP1_uc002cyy.2_Missense_Mutation_p.V181I|A2BP1_uc002cyx.2_Missense_Mutation_p.V181I|A2BP1_uc010uyc.1_Missense_Mutation_p.V181I	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	161	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		ATTTGGTTTCGTAACTTTCGA	0.443000												
CPPED1	55313	broad.mit.edu	37	16	12798506	12798506	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:12798506C>A	uc002dca.3	-	3	801	c.690G>T	c.(688-690)AAG>AAT	p.K230N	CPPED1_uc002dcb.3_Intron|CPPED1_uc002dbz.3_RNA	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	230				K -> E (in Ref. 2; BAA92034).			hydrolase activity|metal ion binding				0						TGTCTGCCAACTTCTTCCGAG	0.567000												
CDR2	1039	broad.mit.edu	37	16	22358554	22358554	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:22358554T>G	uc002dkn.2	-	5	1405	c.1097A>C	c.(1096-1098)AAG>ACG	p.K366T		NM_001802	NP_001793	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2	366	Potential.					nucleus	protein binding			skin(1)	1				GBM - Glioblastoma multiforme(48;0.0188)		CTCTTGGCACTTCTTCAGCAA	0.572000												
HS3ST4	9951	broad.mit.edu	37	16	26146979	26146979	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:26146979A>G	uc002dof.2	+	2	1173	c.781A>G	c.(781-783)ACT>GCT	p.T261A		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	261	Lumenal (Potential).|Substrate binding (By similarity).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		CATGGAGAAGACTCCAAGTTA	0.473000												
CORO1A	11151	broad.mit.edu	37	16	30198745	30198745	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:30198745G>A	uc002dww.2	+	6	801	c.679G>A	c.(679-681)GTG>ATG	p.V227M	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.V227M|CORO1A_uc010bzr.2_Missense_Mutation_p.V227M|CORO1A_uc002dwx.2_Missense_Mutation_p.V121M|CORO1A_uc002dwy.1_Missense_Mutation_p.V71M|LOC606724_uc002dwz.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	227	WD 5.				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						CGTGCGTGCAGTGTTCGTGTC	0.642000												
ZNF689	115509	broad.mit.edu	37	16	30616501	30616501	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:30616501C>T	uc002dyx.2	-	3	907	c.587G>A	c.(586-588)CGG>CAG	p.R196Q	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	196	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GTGTGCCCGCCGGTGACTGAC	0.592000												
RNF40	9810	broad.mit.edu	37	16	30777494	30777494	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:30777494T>A	uc002dzq.2	+	9	1127	c.1004T>A	c.(1003-1005)CTG>CAG	p.L335Q	RNF40_uc010caa.2_Missense_Mutation_p.L335Q|RNF40_uc010cab.2_Intron|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.L335Q|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	335	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			TTTGAGATGCTGAATGCAGAG	0.587000												
ZNF629	23361	broad.mit.edu	37	16	30794713	30794713	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:30794713G>A	uc002dzs.1	-	3	1144	c.936C>T	c.(934-936)CAC>CAT	p.H312H		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	312	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			TCTCGCCCGCGTGGATCTTCT	0.637000												
ZNF629	23361	broad.mit.edu	37	16	30795016	30795016	+	Silent	SNP	G	G	A	rs150923812	by1000genomes	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:30795016G>A	uc002dzs.1	-	3	841	c.633C>T	c.(631-633)TGC>TGT	p.C211C		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	211	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			AGCACTTGCCGCAGTCGGGGC	0.642000												
LONP2	83752	broad.mit.edu	37	16	48304164	48304164	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:48304164A>G	uc002efi.1	+	7	1309	c.1220A>G	c.(1219-1221)CAG>CGG	p.Q407R	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.Q363R	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	407					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						GTATGTGATCAGTCTGACATT	0.453000												
ZNF423	23090	broad.mit.edu	37	16	49670324	49670324	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:49670324C>T	uc002efs.2	-	5	3037	c.2739G>A	c.(2737-2739)CCG>CCA	p.P913P	ZNF423_uc010vgn.1_Silent_p.P796P	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	913					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CATCCTCGCCCGGCCGGATAT	0.592000												
ADCY7	113	broad.mit.edu	37	16	50338342	50338342	+	Silent	SNP	G	G	A	rs139027886		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:50338342G>A	uc002egd.1	+	10	1708	c.1440G>A	c.(1438-1440)GCG>GCA	p.A480A	ADCY7_uc002egb.1_Silent_p.A480A|ADCY7_uc002egc.1_Silent_p.A480A	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	480	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AGATGCGGGCGTCAGTGCGCA	0.687000												
SNX20	124460	broad.mit.edu	37	16	50711346	50711346	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:50711346C>T	uc002egk.2	-	2	265	c.92G>A	c.(91-93)GGC>GAC	p.G31D	SNX20_uc010vgp.1_Missense_Mutation_p.G31D|SNX20_uc002egi.3_Missense_Mutation_p.G31D	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	31					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						GAGGTCGGGGCCAGTGGCTGG	0.617000												
GPR56	9289	broad.mit.edu	37	16	57690467	57690467	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:57690467G>A	uc002emb.2	+	10	1397	c.1105G>A	c.(1105-1107)GTC>ATC	p.V369I	GPR56_uc002elz.1_Missense_Mutation_p.V199I|GPR56_uc002ema.1_Missense_Mutation_p.V194I|GPR56_uc002emc.2_Missense_Mutation_p.V369I|GPR56_uc002emf.2_Missense_Mutation_p.V369I|GPR56_uc010vhs.1_Missense_Mutation_p.V369I|GPR56_uc002emd.2_Missense_Mutation_p.V369I|GPR56_uc002eme.2_Missense_Mutation_p.V369I|GPR56_uc010vht.1_Missense_Mutation_p.V374I|GPR56_uc002emg.3_Missense_Mutation_p.V369I|GPR56_uc010vhu.1_Missense_Mutation_p.V194I	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	369	GPS.|Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						GTGTGAGACCGTCAGGAGAGA	0.607000												
GFOD2	81577	broad.mit.edu	37	16	67709273	67709273	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:67709273G>A	uc002eub.2	-	3	1238	c.943C>T	c.(943-945)CGC>TGC	p.R315C	GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.R210C	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain	315						proteinaceous extracellular matrix	binding|oxidoreductase activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		AAGGACTGGCGCAAGGCCTGC	0.677000												
COG4	25839	broad.mit.edu	37	16	70542363	70542363	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:70542363C>T	uc002ezc.2	-	8	1018	c.1007G>A	c.(1006-1008)CGG>CAG	p.R336Q	COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R336Q|COG4_uc002eze.2_Missense_Mutation_p.R30Q	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	332					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				CTGAACATGCCGGAACTGCAA	0.423000												
HYDIN	54768	broad.mit.edu	37	16	71054191	71054191	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:71054191G>A	uc002ezr.2	-	22	3344	c.3216C>T	c.(3214-3216)TAC>TAT	p.Y1072Y		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1072										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CCAAGGGCTGGTAATCAGGTT	0.408000												
CALB2	794	broad.mit.edu	37	16	71423676	71423676	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:71423676A>G	uc002faa.3	+	11	794	c.724A>G	c.(724-726)AAC>GAC	p.N242D	CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_3'UTR	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	242	EF-hand 6.						calcium ion binding				0		Ovarian(137;0.125)				ACAGCTCACCAACTACAGAAA	0.542000												
PMFBP1	83449	broad.mit.edu	37	16	72184645	72184645	+	Missense_Mutation	SNP	C	C	A	rs146046061		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:72184645C>A	uc002fcc.3	-	5	670	c.498G>T	c.(496-498)TTG>TTT	p.L166F	PMFBP1_uc002fcd.2_Missense_Mutation_p.L166F|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.L21F	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	166	Potential.									ovary(2)	2		Ovarian(137;0.179)				TGTCCCCGGCCAAGGCGAGTT	0.493000												
ZFHX3	463	broad.mit.edu	37	16	72822363	72822363	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:72822363G>A	uc002fck.2	-	10	10485	c.9812C>T	c.(9811-9813)ACG>ATG	p.T3271M	ZFHX3_uc002fcl.2_Missense_Mutation_p.T2357M	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3271					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GGCTGAGATCGTGGCTGCAGT	0.602000												
ADAMTS18	170692	broad.mit.edu	37	16	77369762	77369762	+	Missense_Mutation	SNP	C	C	T	rs149189203	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:77369762C>T	uc002ffc.3	-	12	2169	c.1750G>A	c.(1750-1752)GGG>AGG	p.G584R	ADAMTS18_uc010chc.1_Missense_Mutation_p.G172R|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G280R	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	584					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GGCCGGGGCCCGAGCTCCCCA	0.587000												
KCNG4	93107	broad.mit.edu	37	16	84270710	84270710	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:84270710C>T	uc010voc.1	-	2	503	c.382G>A	c.(382-384)GCG>ACG	p.A128T	KCNG4_uc002fhu.1_Missense_Mutation_p.A128T	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	128	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						TTCCCGGCCGCCAGGAAGCTC	0.637000												
ZFPM1	161882	broad.mit.edu	37	16	88600773	88600773	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:88600773C>T	uc002fkv.2	+	10	2440	c.2407C>T	c.(2407-2409)CGC>TGC	p.R803C		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1	803					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GAAGCCGCGGCGCCCGCTCCC	0.488000												
CBFA2T3	863	broad.mit.edu	37	16	88945788	88945788	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:88945788C>A	uc002fmm.1	-	11	1738	c.1552G>T	c.(1552-1554)GAG>TAG	p.E518*	CBFA2T3_uc002fml.1_Nonsense_Mutation_p.E432*|CBFA2T3_uc002fmk.1_Nonsense_Mutation_p.E17*	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	518	Potential.		E -> K (in a colorectal cancer sample; somatic mutation).		cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E518K(1)		large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GTGATGAGCTCGTGCGCTTTG	0.657000			T	RUNX1	AML							
ANKFY1	51479	broad.mit.edu	37	17	4082326	4082326	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:4082326G>A	uc002fxq.1	-	18	2462	c.2424C>T	c.(2422-2424)CAC>CAT	p.H808H	ANKFY1_uc002fxn.2_Silent_p.H850H|ANKFY1_uc002fxo.2_Silent_p.H809H|ANKFY1_uc002fxp.2_Silent_p.H807H|ANKFY1_uc010ckp.2_Silent_p.H750H	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	808	ANK 14.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						TGATGGCCACGTGGATGGGGG	0.448000												
MYBBP1A	10514	broad.mit.edu	37	17	4455891	4455891	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:4455891G>A	uc002fyb.3	-	6	654	c.592C>T	c.(592-594)CCG>TCG	p.P198S	MYBBP1A_uc002fxz.3_Missense_Mutation_p.P198S	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	198	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						AGGACCTCCGGCAGGATCTCC	0.552000												
WSCD1	23302	broad.mit.edu	37	17	6023799	6023799	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:6023799C>T	uc010cli.2	+	9	1925	c.1546C>T	c.(1546-1548)CGG>TGG	p.R516W	WSCD1_uc002gcn.2_Missense_Mutation_p.R516W|WSCD1_uc002gco.2_Missense_Mutation_p.R516W|WSCD1_uc010clj.2_Missense_Mutation_p.R207W	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	516						integral to membrane	sulfotransferase activity				0						GAGCGAGGAGCGGCTGCTCTG	0.657000												
ASGR1	432	broad.mit.edu	37	17	7077112	7077112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:7077112C>T	uc002ges.3	-	9	1152	c.742G>A	c.(742-744)GGG>AGG	p.G248R	ASGR1_uc010clx.1_3'UTR	NM_001671	NP_001662	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	248	Extracellular (Probable).|C-type lectin.				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)	2						CCTCCGAGCCCGTGGCCGTAC	0.697000												
TP53	7157	broad.mit.edu	37	17	7577523	7577523	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:7577523G>A	uc002gim.2	-	7	952	c.758C>T	c.(757-759)ACC>ATC	p.T253I	TP53_uc002gig.1_Missense_Mutation_p.T253I|TP53_uc002gih.2_Missense_Mutation_p.T253I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T121I|TP53_uc010cng.1_Missense_Mutation_p.T121I|TP53_uc002gii.1_Missense_Mutation_p.T121I|TP53_uc010cnh.1_Missense_Mutation_p.T253I|TP53_uc010cni.1_Missense_Mutation_p.T253I|TP53_uc002gij.2_Missense_Mutation_p.T253I|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.T160I|TP53_uc002gio.2_Missense_Mutation_p.T121I	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	253	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		T -> A (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> N (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.0?(7)|p.T253S(5)|p.I251_T253delILT(4)|p.T253I(3)|p.T253P(3)|p.T253A(3)|p.L252_I254delLTI(3)|p.T253fs*91(2)|p.T253_I255del(2)|p.T253fs*11(2)|p.T253T(2)|p.L252_T253delLT(1)|p.?(1)|p.P250_T253delPILT(1)|p.T253del(1)|p.T253fs*92(1)|p.R249_T256delRPILTIIT(1)|p.I254fs*10(1)|p.T253N(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)		TGTGATGATGGTGAGGATGGG	0.582000		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	7681676	7681676	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:7681676C>T	uc002giu.1	+	34	5444	c.5430C>T	c.(5428-5430)ACC>ACT	p.T1810T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1810	AAA 1 (By similarity).|ATP (Potential).				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)				CAGGCAAGACCGAGACCGTCA	0.572000												
GUCY2D	3000	broad.mit.edu	37	17	7907470	7907470	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:7907470A>C	uc002gjt.2	+	3	1096	c.1022A>C	c.(1021-1023)CAG>CCG	p.Q341P		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	341	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CTCAATCTGCAGCAGGTAGAC	0.632000												
PER1	5187	broad.mit.edu	37	17	8053891	8053891	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:8053891G>A	uc002gkd.2	-	2	372	c.134C>T	c.(133-135)ACC>ATC	p.T45I	PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.T29I|PER1_uc010vus.1_Missense_Mutation_p.T45I	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	45					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						GTTGGCATCGGTGTCATCGGC	0.647000			T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes				
MYH13	8735	broad.mit.edu	37	17	10219039	10219039	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:10219039G>T	uc002gmk.1	-	29	4045	c.3955C>A	c.(3955-3957)CTT>ATT	p.L1319I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1319	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TGCCTCTTAAGCTCCTCCAGC	0.507000												
TRPV2	51393	broad.mit.edu	37	17	16330184	16330184	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:16330184T>C	uc002gpy.2	+	7	1611	c.1244T>C	c.(1243-1245)CTG>CCG	p.L415P	TRPV2_uc002gpz.2_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	415	Extracellular (Potential).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAGCCTACCCTGAAGAAGGCA	0.527000												
TNFRSF13B	23495	broad.mit.edu	37	17	16843774	16843774	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:16843774G>A	uc002gqs.1	-	4	510	c.497C>T	c.(496-498)ACG>ATG	p.T166M	TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.T120M	NM_012452	NP_036584	O14836	TR13B_HUMAN	tumor necrosis factor receptor 13B	166	Helical; Signal-anchor for type III membrane protein; (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			kidney(2)	2						GAGCCCCAGCGTGCTGTAGAC	0.642000									IgA_Deficiency_Selective			
RAI1	10743	broad.mit.edu	37	17	17698668	17698668	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:17698668G>T	uc002grm.2	+	3	2875	c.2406G>T	c.(2404-2406)AAG>AAT	p.K802N	RAI1_uc002grn.1_Missense_Mutation_p.K802N	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	802						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CTGGGGAGAAGGTGGCCTCGT	0.672000												
FLII	2314	broad.mit.edu	37	17	18152659	18152659	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:18152659C>G	uc002gsr.1	-	15	1891	c.1840G>C	c.(1840-1842)GAC>CAC	p.D614H	FLII_uc002gsq.1_Missense_Mutation_p.D485H|FLII_uc010cpy.1_Missense_Mutation_p.D603H|FLII_uc010vxn.1_Missense_Mutation_p.D583H|FLII_uc010vxo.1_Missense_Mutation_p.D559H|FLII_uc002gss.1_Missense_Mutation_p.D613H	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	614	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					TAGTGTGTGTCTTCCACAGTG	0.552000												
RNF112	7732	broad.mit.edu	37	17	19318422	19318422	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:19318422G>A	uc010vyw.1	+	11	1397	c.1198G>A	c.(1198-1200)GCT>ACT	p.A400T	RNF112_uc010vyv.1_Missense_Mutation_p.A401T|RNF112_uc010vyx.1_Missense_Mutation_p.A283T	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	400							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						CCCCCAGCACGCTAAGAGCCG	0.632000												
CYTSB	92521	broad.mit.edu	37	17	20109083	20109083	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:20109083C>T	uc002gwq.2	+	4	1866	c.1721C>T	c.(1720-1722)ACG>ATG	p.T574M	CYTSB_uc010cqx.2_Missense_Mutation_p.T574M|CYTSB_uc002gwr.2_Missense_Mutation_p.T574M|CYTSB_uc002gws.2_Missense_Mutation_p.T574M|CYTSB_uc002gwv.2_Missense_Mutation_p.T493M|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.T350M|CYTSB_uc002gwt.2_Missense_Mutation_p.T493M|CYTSB_uc002gwu.2_Missense_Mutation_p.T493M	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	574						nucleus					0						GTGGAGCAGACGGCAGAGAGC	0.463000												
KCNJ12	3768	broad.mit.edu	37	17	21318767	21318767	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:21318767C>T	uc002gyv.1	+	3	818	c.113C>T	c.(112-114)ACG>ATG	p.T38M		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	38	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	AAGGTGCACACGCGGCGCAGG	0.622000										Prostate(3;0.18)		
SLC13A2	9058	broad.mit.edu	37	17	26822686	26822686	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:26822686C>T	uc002hbh.2	+	10	1389	c.1322C>T	c.(1321-1323)TCA>TTA	p.S441L	SLC13A2_uc010wam.1_Missense_Mutation_p.S397L|SLC13A2_uc010wan.1_Missense_Mutation_p.S490L|SLC13A2_uc010wao.1_Missense_Mutation_p.S398L|SLC13A2_uc002hbi.2_Missense_Mutation_p.S370L	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	441						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TCGGGCCTGTCAGAGTGGCTG	0.622000												
NEK8	284086	broad.mit.edu	37	17	27067543	27067543	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:27067543G>T	uc002hcp.2	+	11	1480	c.1480G>T	c.(1480-1482)GGA>TGA	p.G494*		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	494	RCC1 3.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					CATGCCCCCAGGACAGGAAGC	0.557000												
ABHD15	116236	broad.mit.edu	37	17	27893168	27893168	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:27893168C>T	uc002hed.1	-	1	881	c.817G>A	c.(817-819)GAG>AAG	p.E273K	TP53I13_uc002hee.2_5'Flank	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15 precursor	273						extracellular region	carboxylesterase activity				0						AGGCCGGCCTCGAACCACTCT	0.677000												
ATAD5	79915	broad.mit.edu	37	17	29167732	29167732	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:29167732C>T	uc002hfs.1	+	4	2520	c.2174C>T	c.(2173-2175)GCG>GTG	p.A725V	ATAD5_uc002hft.1_Missense_Mutation_p.A622V	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	725					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAGAAATAGCGATACCCTTA	0.343000												
ATAD5	79915	broad.mit.edu	37	17	29220338	29220338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:29220338G>A	uc002hfs.1	+	21	4813	c.4467G>A	c.(4465-4467)TGG>TGA	p.W1489*		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1489					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGAAGAATGGCATAAATTCA	0.303000												
RHBDL3	162494	broad.mit.edu	37	17	30615897	30615897	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:30615897G>A	uc002hhe.1	+	4	395	c.381G>A	c.(379-381)AAG>AAA	p.K127K	RHBDL3_uc010csw.1_Silent_p.K119K|RHBDL3_uc010csx.1_Silent_p.K127K|RHBDL3_uc010csy.1_Silent_p.K29K|RHBDL3_uc002hhf.1_Silent_p.K29K	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid protease 3	127					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)				TGGAGGAGAAGGGGCTGAGCC	0.592000												
ZNF207	7756	broad.mit.edu	37	17	30696741	30696741	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:30696741T>C	uc002hhh.3	+	11	1548	c.1400T>C	c.(1399-1401)ATG>ACG	p.M467T	ZNF207_uc002hhj.3_Missense_Mutation_p.M483T|ZNF207_uc002hhi.3_Missense_Mutation_p.M452T|ZNF207_uc010csz.2_Missense_Mutation_p.M486T|ZNF207_uc002hhk.1_Missense_Mutation_p.M483T|ZNF207_uc002hhl.1_RNA	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	467						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CCGATGGGAATGAGACCTCCT	0.527000												
FKBP10	60681	broad.mit.edu	37	17	39975526	39975526	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:39975526G>A	uc002hxv.2	+	5	1117	c.792G>A	c.(790-792)CCG>CCA	p.P264P	FKBP10_uc002hxw.1_5'UTR	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	264					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TGCACAACCCGAAGGACGCTG	0.612000												
NAGLU	4669	broad.mit.edu	37	17	40690415	40690415	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:40690415C>T	uc002hzv.2	+	3	930	c.590C>T	c.(589-591)GCC>GTC	p.A197V		NM_000263	NP_000254	P54802	ANAG_HUMAN	alpha-N-acetylglucosaminidase precursor	197						lysosome	alpha-N-acetylglucosaminidase activity				0		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	ACTGGTCCTGCCTTCCTGGCC	0.542000												
BECN1	8678	broad.mit.edu	37	17	40966560	40966560	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:40966560A>G	uc002ibo.3	-	9	1097	c.962T>C	c.(961-963)ATG>ACG	p.M321T	BECN1_uc010whb.1_Missense_Mutation_p.M234T|BECN1_uc010whc.1_Missense_Mutation_p.M245T|BECN1_uc002ibn.2_Missense_Mutation_p.M321T	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	321					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TTTCAGACCCATCTTATTGGC	0.498000												
TMEM106A	113277	broad.mit.edu	37	17	41368528	41368528	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:41368528G>A	uc002idn.1	+	6	727	c.490G>A	c.(490-492)GAG>AAG	p.E164K	TMEM106A_uc010why.1_Missense_Mutation_p.E116K|TMEM106A_uc010cze.1_Missense_Mutation_p.E164K|TMEM106A_uc010whz.1_Intron	NM_145041	NP_659478	Q96A25	T106A_HUMAN	transmembrane protein 106A	164						integral to membrane					0		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		GCTGACCCTCGAGGTTCTGCA	0.542000												
MAPT	4137	broad.mit.edu	37	17	44101486	44101486	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:44101486C>T	uc002ijr.3	+	14	2546	c.2226C>T	c.(2224-2226)CTC>CTT	p.L742L	MAPT_uc010dau.2_Silent_p.L760L|MAPT_uc002ijs.3_Silent_p.L425L|MAPT_uc002ijx.3_Silent_p.L396L|MAPT_uc002ijt.3_Silent_p.L367L|MAPT_uc002iju.3_Silent_p.L336L|MAPT_uc002ijv.3_Silent_p.L343L	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	742					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				CGCCCCAGCTCGCCACGCTAG	0.597000												
OR4D2	124538	broad.mit.edu	37	17	56247325	56247325	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:56247325C>T	uc010wnp.1	+	1	309	c.309C>T	c.(307-309)TTC>TTT	p.F103F		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						AGATCTTCTTCTTCCACTTTT	0.522000												
HSF5	124535	broad.mit.edu	37	17	56557589	56557589	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:56557589C>T	uc002iwi.1	-	2	714	c.590G>A	c.(589-591)CGA>CAA	p.R197Q		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	197	By similarity.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAAACTATCTCGACGAAATGA	0.428000												
C17orf71	55181	broad.mit.edu	37	17	57290847	57290847	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:57290847C>T	uc002ixi.2	+	3	2705	c.2663C>T	c.(2662-2664)CCC>CTC	p.P888L		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	888					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)					AGTGACATGCCCTTATATATT	0.438000												
SMARCD2	6603	broad.mit.edu	37	17	61911083	61911083	+	Splice_Site	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:61911083C>T	uc010deb.1	-	10	1499	c.1182_splice	c.e10-1	p.S394_splice	SMARCD2_uc010wpt.1_Splice_Site_p.S346_splice|SMARCD2_uc010dea.1_Splice_Site_p.S319_splice|SMARCD2_uc010dec.1_Splice_Site_p.S373_splice	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						AGGGTCGACACTGCAGGCAGC	0.552000												
SCN4A	6329	broad.mit.edu	37	17	62045681	62045681	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:62045681C>T	uc002jds.1	-	6	815	c.738G>A	c.(736-738)TCG>TCA	p.S246S		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	246	I.		S -> L.		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GCTTTTTCACCGACTGGATCA	0.592000												
ERN1	2081	broad.mit.edu	37	17	62144207	62144207	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:62144207G>A	uc002jdz.2	-	8	779	c.666C>T	c.(664-666)TAC>TAT	p.Y222Y		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	222	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						CAGGGGAGGCGTAGTTTTGGA	0.537000												
ABCA9	10350	broad.mit.edu	37	17	67024767	67024767	+	Silent	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:67024767A>G	uc002jhu.2	-	12	1667	c.1524T>C	c.(1522-1524)TAT>TAC	p.Y508Y	ABCA9_uc010dez.2_Silent_p.Y508Y	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	508	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TCTGGCCTTCATATATGTCAA	0.393000												
ABCA5	23461	broad.mit.edu	37	17	67251897	67251897	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:67251897T>C	uc002jif.2	-	29	5171	c.3953A>G	c.(3952-3954)TAC>TGC	p.Y1318C	ABCA5_uc002jib.2_Missense_Mutation_p.Y284C|ABCA5_uc002jic.2_Missense_Mutation_p.Y541C|ABCA5_uc002jid.2_Missense_Mutation_p.Y235C|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.Y1318C	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1318	ABC transporter 2.				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			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					GAAAGAGATGTATTTAGTTGC	0.274000												
ABCA5	23461	broad.mit.edu	37	17	67270228	67270228	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:67270228A>G	uc002jif.2	-	19	3854	c.2636T>C	c.(2635-2637)ATG>ACG	p.M879T	ABCA5_uc002jic.2_Missense_Mutation_p.M102T|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.M879T|ABCA5_uc002jih.2_Missense_Mutation_p.M879T|ABCA5_uc010dfe.2_Missense_Mutation_p.M879T	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	879	Helical; (Potential).				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			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					AACCAAAAACATAAAAATCTG	0.308000												
KCNJ16	3773	broad.mit.edu	37	17	68128892	68128892	+	Missense_Mutation	SNP	C	C	T	rs148765286		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:68128892C>T	uc002jin.2	+	5	1150	c.664C>T	c.(664-666)CGC>TGC	p.R222C	KCNJ16_uc002jio.2_Missense_Mutation_p.R222C|KCNJ16_uc002jip.2_Missense_Mutation_p.R222C|KCNJ16_uc002jiq.2_Missense_Mutation_p.R254C	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	222	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)					CCAACTTCTCCGCTATACAGA	0.468000												
OTOP2	92736	broad.mit.edu	37	17	72926834	72926834	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:72926834C>T	uc010wrp.1	+	7	1193	c.1104C>T	c.(1102-1104)GAC>GAT	p.D368D		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	368						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					GCACTCTGGACGTGGCCCTGC	0.642000												
EVPL	2125	broad.mit.edu	37	17	74003904	74003904	+	Silent	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:74003904A>G	uc002jqi.2	-	22	5610	c.5382T>C	c.(5380-5382)TCT>TCC	p.S1794S	EVPL_uc010wss.1_Silent_p.S1816S|EVPL_uc010wst.1_Silent_p.S1264S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1794	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TGGAGATGATAGAGCCGATGG	0.602000												
RPTOR	57521	broad.mit.edu	37	17	78867514	78867514	+	Silent	SNP	C	C	T	rs115028103	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:78867514C>T	uc002jyt.1	+	20	3055	c.2250C>T	c.(2248-2250)GGC>GGT	p.G750G	RPTOR_uc010wug.1_Silent_p.G592G	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	750					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						CAGCTGGTGGCGCGGTGGCGT	0.597000												
AATK	9625	broad.mit.edu	37	17	79095065	79095065	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:79095065G>A	uc010dia.2	-	11	2751	c.2671C>T	c.(2671-2673)CGC>TGC	p.R891C	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	891						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGCAGAGAGCGGAAGGCTGGC	0.662000												
GPS1	2873	broad.mit.edu	37	17	80014952	80014952	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:80014952G>A	uc002kdl.1	+	13	1470	c.1425G>A	c.(1423-1425)CAG>CAA	p.Q475Q	GPS1_uc002kdk.1_Silent_p.Q511Q|GPS1_uc010dij.1_Silent_p.Q510Q|GPS1_uc002kdm.1_Silent_p.Q455Q|GPS1_uc002kdn.1_Silent_p.Q471Q|GPS1_uc002kdo.1_Silent_p.Q474Q|GPS1_uc010wvh.1_Silent_p.Q467Q	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	475					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AAGGGAGCCAGGGGGAGCTGA	0.677000												
ELP2	55250	broad.mit.edu	37	18	33726216	33726216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:33726216C>T	uc002kzk.1	+	11	1007	c.997C>T	c.(997-999)CGA>TGA	p.R333*	ELP2_uc010xcg.1_Nonsense_Mutation_p.R398*|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Nonsense_Mutation_p.R307*|ELP2_uc010xch.1_Intron|ELP2_uc002kzn.1_Intron|ELP2_uc002kzo.1_Nonsense_Mutation_p.R263*	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	333					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						TGTACAGGTTCGAGTAGGTGA	0.393000												
KIAA1328	57536	broad.mit.edu	37	18	34753044	34753044	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:34753044G>A	uc002kzz.2	+	9	1545	c.1523G>A	c.(1522-1524)CGG>CAG	p.R508Q	KIAA1328_uc002lab.2_Missense_Mutation_p.R260H|KIAA1328_uc002lac.1_Missense_Mutation_p.R367Q|KIAA1328_uc010dnc.1_RNA	NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	508										central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)		ACCACCTCCCGGTAAGCTTCA	0.388000												
CELF4	56853	broad.mit.edu	37	18	35145354	35145354	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:35145354G>A	uc002lae.2	-	1	647	c.251C>T	c.(250-252)ACG>ATG	p.T84M	CELF4_uc010dnd.1_Missense_Mutation_p.T84M|CELF4_uc002lag.2_Missense_Mutation_p.T84M|CELF4_uc002laf.2_Missense_Mutation_p.T80M|CELF4_uc002lai.2_Missense_Mutation_p.T80M	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	84	RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						CTTCAGAACCGTAAGCTCGTA	0.587000												
SETBP1	26040	broad.mit.edu	37	18	42531385	42531385	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:42531385G>T	uc010dni.2	+	4	2376	c.2080G>T	c.(2080-2082)GCT>TCT	p.A694S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	694						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAAGGCAAAAGCTCCCCCAGA	0.478000									Schinzel-Giedion_syndrome			
WDR7	23335	broad.mit.edu	37	18	54446705	54446705	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:54446705C>A	uc002lgk.1	+	18	3202	c.2991C>A	c.(2989-2991)GAC>GAA	p.D997E	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.D964E	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	997										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCTGCCAGACCTACTGGGAT	0.423000												
ZCCHC2	54877	broad.mit.edu	37	18	60241471	60241471	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:60241471G>A	uc002lip.3	+	13	2157	c.2157G>A	c.(2155-2157)ATG>ATA	p.M719I	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Missense_Mutation_p.M189I	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	719					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2						TTTCTTTTATGCCAACGTTAC	0.443000												
SERPINB8	5271	broad.mit.edu	37	18	61654276	61654276	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:61654276G>A	uc002ljv.2	+	7	1058	c.889G>A	c.(889-891)GCA>ACA	p.A297T	SERPINB8_uc002lju.2_Missense_Mutation_p.A297T|SERPINB8_uc010xex.1_Missense_Mutation_p.A115T	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	297					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				CGAAGCCAAGGCAGACTTTTC	0.488000												
TSHZ1	10194	broad.mit.edu	37	18	73000281	73000281	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:73000281C>T	uc002lly.2	+	2	3347	c.2784C>T	c.(2782-2784)AAC>AAT	p.N928N		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	973	C2H2-type 4.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCTTTTGCAACGATTGTGCCT	0.488000												
ADNP2	22850	broad.mit.edu	37	18	77893766	77893766	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:77893766G>A	uc002lnw.2	+	4	925	c.470G>A	c.(469-471)TGT>TAT	p.C157Y		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	157					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			ovary(4)|breast(3)|central_nervous_system(1)	8		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)		AGTTTCACATGTCTAAAATGT	0.378000												
CDC34	997	broad.mit.edu	37	19	537097	537097	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:537097G>A	uc002lov.2	+	4	646	c.447G>A	c.(445-447)AGG>AGA	p.R149R		NM_004359	NP_004350	P49427	UB2R1_HUMAN	ubiquitin-conjugating enzyme Cdc34	149				R->A: Inhibits polyubiquitination of NFKBIA; when associated with A-147; A- 147; A-150 and A-153.	DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATGTACAGGAAGTGGAAAG	0.617000												
APC2	10297	broad.mit.edu	37	19	1460308	1460308	+	Missense_Mutation	SNP	G	G	A	rs150518571	by1000genomes	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:1460308G>A	uc002lsr.1	+	11	1640	c.1432G>A	c.(1432-1434)GTT>ATT	p.V478I	APC2_uc002lss.1_Missense_Mutation_p.V60I|APC2_uc002lst.1_Missense_Mutation_p.V478I|APC2_uc002lsu.1_Missense_Mutation_p.V477I|uc002lsv.2_5'Flank	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	478					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTGGGGACGTTGCCAACAA	0.562000												
APC2	10297	broad.mit.edu	37	19	1466430	1466430	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:1466430G>A	uc002lsr.1	+	15	3338	c.3130G>A	c.(3130-3132)GCG>ACG	p.A1044T	APC2_uc002lss.1_Missense_Mutation_p.A626T|APC2_uc002lst.1_Missense_Mutation_p.A1044T|APC2_uc002lsu.1_Missense_Mutation_p.A1043T|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1044					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGAAGCTGGCGGCTGCCCC	0.692000												
TCF3	6929	broad.mit.edu	37	19	1615385	1615385	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:1615385C>T	uc002ltr.2	-	18	1788	c.1721G>A	c.(1720-1722)CGC>CAC	p.R574H	TCF3_uc002ltn.2_Intron|TCF3_uc002lto.2_Missense_Mutation_p.R335H|TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Missense_Mutation_p.R578H|TCF3_uc002lts.1_Intron	NM_003200	NP_003191	P15923	TFE2_HUMAN	transcription factor 3 isoform E12	574	Helix-loop-helix motif.				B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		TTGGCACATGCGCCCCAGCTC	0.627000			T	PBX1|HLF|TFPT	pre B-ALL							
SLC39A3	29985	broad.mit.edu	37	19	2733057	2733057	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:2733057C>T	uc002lwg.2	-	3	891	c.637G>A	c.(637-639)GTG>ATG	p.V213M	SLC39A3_uc010xgy.1_Missense_Mutation_p.V213M	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	213	Helical; (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		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)		CCCAGGGCCACGGCCACCAGT	0.697000												
GIPC3	126326	broad.mit.edu	37	19	3589552	3589552	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:3589552C>T	uc002lyd.3	+	4	731	c.704C>T	c.(703-705)GCG>GTG	p.A235V		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	235										breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		gtggaggaagcggtgagtgaa	0.279000												
TMIGD2	126259	broad.mit.edu	37	19	4292666	4292666	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:4292666C>T	uc002lzx.1	-	5	825	c.779G>A	c.(778-780)AGG>AAG	p.R260K	TMIGD2_uc010dtv.1_Missense_Mutation_p.R256K	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain	260	Pro-rich.|Cytoplasmic (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGAGACCCTGACCATAGA	0.507000												
SEMA6B	10501	broad.mit.edu	37	19	4557220	4557220	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:4557220G>A	uc010duc.1	-	3	299	c.261C>T	c.(259-261)CGC>CGT	p.R87R	SEMA6B_uc010dud.2_Silent_p.R87R|SEMA6B_uc010xih.1_Silent_p.R87R	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	87	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)		CCAGCTCTACGCGGTAGAGGT	0.662000												
PRR22	163154	broad.mit.edu	37	19	5783938	5783938	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:5783938A>G	uc002mdb.1	-	1	673	c.314T>C	c.(313-315)GTC>GCC	p.V105A	PRR22_uc010xiv.1_Missense_Mutation_p.V107A	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN	proline rich 22 isoform 2	105	Pro-rich.										0						GGCGGAGGGGACCCCCGCTGG	0.701000												
TUBB4	10382	broad.mit.edu	37	19	6496189	6496189	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:6496189C>T	uc002mfg.1	-	4	428	c.321G>A	c.(319-321)ACG>ACA	p.T107T	TUBB4_uc002mff.1_Silent_p.T35T	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	107					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		CTGCGCCCTCCGTGTAGTGCC	0.647000												
SNAPC2	6618	broad.mit.edu	37	19	7987008	7987008	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:7987008T>C	uc002miw.1	+	4	484	c.461T>C	c.(460-462)CTG>CCG	p.L154P	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	154					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0						CCTTTGCTCCTGAGCGCCCCT	0.672000												
LASS4	79603	broad.mit.edu	37	19	8326868	8326868	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:8326868G>A	uc002mjg.2	+	12	1380	c.1060G>A	c.(1060-1062)GCG>ACG	p.A354T	LASS4_uc002mjh.2_Missense_Mutation_p.A303T|LASS4_uc002mji.2_Missense_Mutation_p.A190T|LASS4_uc010dvz.2_Missense_Mutation_p.A266T	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	LAG1 homolog, ceramide synthase 4	354						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(1)	1						TGAGGAGGCGGCGGCGGCCCA	0.637000												
MUC16	94025	broad.mit.edu	37	19	9067365	9067365	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:9067365G>A	uc002mkp.2	-	3	20285	c.20081C>T	c.(20080-20082)GCC>GTC	p.A6694V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6696	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						TCTAGAAGAGGCAACTTCTGT	0.522000												
ZNF560	147741	broad.mit.edu	37	19	9578460	9578460	+	Missense_Mutation	SNP	G	G	A	rs146030501	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:9578460G>A	uc002mlp.1	-	10	1373	c.1163C>T	c.(1162-1164)CCG>CTG	p.P388L	ZNF560_uc010dwr.1_Missense_Mutation_p.P282L	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	388	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						AAAGCCTGACGGCACAGTGAA	0.423000												
COL5A3	50509	broad.mit.edu	37	19	10081693	10081693	+	Silent	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:10081693A>G	uc002mmq.1	-	53	3926	c.3840T>C	c.(3838-3840)GGT>GGC	p.G1280G		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1280	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CCCCTGGGGAACCATCTATGC	0.577000												
CDKN2D	1032	broad.mit.edu	37	19	10677827	10677827	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:10677827G>A	uc002mpa.2	-	2	710	c.408C>T	c.(406-408)GAC>GAT	p.D136D	KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Silent_p.D136D	NM_001800	NP_001791	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D	136					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)			GACCCCTGGCGTCCCTGCGAT	0.617000									Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System			
BEST2	54831	broad.mit.edu	37	19	12866954	12866954	+	Splice_Site	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:12866954G>T	uc002mux.2	+	8	949	c.949_splice	c.e8-1	p.V317_splice		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1						membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						TGCACCCGTAGGTGTCCATGC	0.632000												
HOOK2	29911	broad.mit.edu	37	19	12874211	12874211	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:12874211C>T	uc002muy.2	-	23	2216	c.2045G>A	c.(2044-2046)CGG>CAG	p.R682Q	HOOK2_uc010xmq.1_Missense_Mutation_p.R87Q|HOOK2_uc002muz.2_Missense_Mutation_p.R680Q	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	682	Sufficient for interaction with CEP110.|Required for localization to the centrosome and induction of aggresome formation.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						GGCAGGCGCCCGCTCCTCCCC	0.642000												
CALR3	125972	broad.mit.edu	37	19	16593516	16593516	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:16593516C>T	uc002ned.2	-	6	822	c.759G>A	c.(757-759)GCG>GCA	p.A253A	MED26_uc002nee.2_RNA	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3 precursor	253	3 X approximate repeats.|P-domain.|2-1.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0						GGAGCATCGGCGCTGGCCAGT	0.597000												
ZNF536	9745	broad.mit.edu	37	19	30935847	30935847	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:30935847A>G	uc002nsu.1	+	2	1516	c.1378A>G	c.(1378-1380)ATG>GTG	p.M460V	ZNF536_uc010edd.1_Missense_Mutation_p.M460V	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CGAGCTGCCCATGAAGGAGAA	0.642000												
CHST8	64377	broad.mit.edu	37	19	34263386	34263386	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:34263386C>T	uc002nus.3	+	5	1198	c.693C>T	c.(691-693)AGC>AGT	p.S231S	CHST8_uc002nut.3_Silent_p.S231S|CHST8_uc002nuu.2_Silent_p.S231S	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	231	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					ACTATGGCAGCGCTCTCAAGC	0.632000												
KIAA0355	9710	broad.mit.edu	37	19	34832706	34832706	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:34832706C>T	uc002nvd.3	+	10	2726	c.1867C>T	c.(1867-1869)CGT>TGT	p.R623C		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	623										ovary(1)	1	Esophageal squamous(110;0.162)					CATGGAGAGGCGTGAGAACTT	0.458000												
CD22	933	broad.mit.edu	37	19	35831914	35831914	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:35831914C>T	uc010edt.2	+	7	1457	c.1380C>T	c.(1378-1380)GGC>GGT	p.G460G	CD22_uc010xst.1_Silent_p.G288G|CD22_uc010edu.2_Silent_p.G372G|CD22_uc010edv.2_Silent_p.G460G|CD22_uc002nzb.3_Silent_p.G283G|CD22_uc010edx.2_RNA	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	460	Extracellular (Potential).|Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AACCCCATGGCGCCTGGGAGG	0.537000												
KRTDAP	388533	broad.mit.edu	37	19	35979569	35979569	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:35979569G>A	uc002nzh.2	-	3	175	c.163C>T	c.(163-165)CGA>TGA	p.R55*		NM_207392	NP_997275	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	55					cell differentiation	extracellular region					0	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)			CTCACAGATCGCAATTTGTCG	0.507000												
ZNF566	84924	broad.mit.edu	37	19	36940763	36940763	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:36940763T>C	uc002oea.3	-	5	455	c.373A>G	c.(373-375)AAT>GAT	p.N125D	ZNF566_uc010xte.1_Missense_Mutation_p.N125D|ZNF566_uc010xtf.1_Missense_Mutation_p.N126D|ZNF566_uc002oeb.3_Missense_Mutation_p.N125D|ZNF566_uc002oec.3_Missense_Mutation_p.N21D|ZNF566_uc010xtg.1_Missense_Mutation_p.N21D	NM_032838	NP_116227	Q969W8	ZN566_HUMAN	zinc finger protein 566 isoform 1	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)					AACTGCCGATTACATTCCCAA	0.403000												
HKR1	284459	broad.mit.edu	37	19	37854373	37854373	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:37854373G>A	uc002ogb.2	+	6	1945	c.1676G>A	c.(1675-1677)GGC>GAC	p.G559D	HKR1_uc002ofx.2_Missense_Mutation_p.G275D|HKR1_uc002ofy.2_Missense_Mutation_p.G275D|HKR1_uc002oga.2_Missense_Mutation_p.G541D|HKR1_uc010xto.1_Missense_Mutation_p.G541D|HKR1_uc002ogc.2_Missense_Mutation_p.G540D|HKR1_uc010xtp.1_Missense_Mutation_p.G498D|HKR1_uc002ogd.2_Missense_Mutation_p.G498D	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	559	C2H2-type 10.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGGAGTGTGGCAGAAGGTTT	0.502000												
GGN	199720	broad.mit.edu	37	19	38876233	38876233	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:38876233G>A	uc002oij.1	-	3	1804	c.1669C>T	c.(1669-1671)CCT>TCT	p.P557S	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Intron	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	557	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGCTGTCAGGCACGGTAGCT	0.672000												
ZNF780B	163131	broad.mit.edu	37	19	40540359	40540359	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:40540359C>T	uc002omu.2	-	5	2472	c.2407G>A	c.(2407-2409)GTA>ATA	p.V803I	ZNF780B_uc002omv.2_Missense_Mutation_p.V655I	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	803	C2H2-type 23; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCACCTGTACAAGTTTTTGA	0.403000												
AKT2	208	broad.mit.edu	37	19	40762934	40762934	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:40762934C>T	uc002onf.2	-	3	336	c.74G>A	c.(73-75)CGG>CAG	p.R25Q	AKT2_uc010egs.2_Missense_Mutation_p.R25Q|AKT2_uc010egt.2_5'UTR|AKT2_uc010xvj.1_5'UTR|AKT2_uc010egu.1_5'UTR|AKT2_uc010xvk.1_Missense_Mutation_p.R25Q	NM_001626	NP_001617	P31751	AKT2_HUMAN	AKT2 kinase	25	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2			Lung(22;0.000499)			CAGGAAGTACCGTGGCCTCCA	0.562000			A		ovarian|pancreatic 							
PRX	57716	broad.mit.edu	37	19	40900690	40900690	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:40900690A>G	uc002onr.2	-	7	3838	c.3569T>C	c.(3568-3570)GTG>GCG	p.V1190A	PRX_uc002onq.2_Missense_Mutation_p.V1051A|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1190	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACAGGGTCACCTGGGGCAC	0.632000												
PSG2	5670	broad.mit.edu	37	19	43579693	43579693	+	Silent	SNP	C	C	T	rs146429644		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:43579693C>T	uc002ovr.2	-	3	615	c.522G>A	c.(520-522)CCG>CCA	p.P174P	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.P174P|PSG2_uc010eiq.1_Silent_p.P174P|PSG2_uc002ovs.3_Silent_p.P174P|PSG2_uc002ovt.3_Silent_p.P174P	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	174	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				AGCTTGTGTCCGGAGTCTCAG	0.517000												
IRGQ	126298	broad.mit.edu	37	19	44097037	44097037	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:44097037G>A	uc002oww.2	-	2	1131	c.1013C>T	c.(1012-1014)CCG>CTG	p.P338L	IRGQ_uc010eiv.2_Missense_Mutation_p.P338L	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	338							protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)				CAGACACTCCGGATCCTCGCC	0.617000												
RSPH6A	81492	broad.mit.edu	37	19	46313976	46313976	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:46313976G>A	uc002pdm.2	-	2	916	c.773C>T	c.(772-774)ACG>ATG	p.T258M	RSPH6A_uc002pdl.2_Translation_Start_Site	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	258						intracellular				ovary(1)|central_nervous_system(1)	2						GTCCCGCAGCGTGTCCAGCTT	0.627000												
PNMAL2	57469	broad.mit.edu	37	19	46997563	46997563	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:46997563C>T	uc002pes.2	-	1	1607	c.1160G>A	c.(1159-1161)CGC>CAC	p.R387H	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	387										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CACCTTCACGCGGGTCCCGTT	0.647000												
LIG1	3978	broad.mit.edu	37	19	48646810	48646810	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:48646810C>T	uc002pia.1	-	11	1024	c.904G>A	c.(904-906)GTG>ATG	p.V302M	LIG1_uc010xze.1_Translation_Start_Site|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.V234M|LIG1_uc010xzg.1_Missense_Mutation_p.V271M|LIG1_uc010xzh.1_RNA	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	302					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CGAGCAGACACCTCCTCGATC	0.587000								NER				
GRIN2D	2906	broad.mit.edu	37	19	48919394	48919394	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:48919394T>C	uc002pjc.3	+	7	1805	c.1717T>C	c.(1717-1719)TCC>CCC	p.S573P		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	573	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TGGCACGGTGTCCCCCTCGGC	0.577000												
TULP2	7288	broad.mit.edu	37	19	49391323	49391323	+	Missense_Mutation	SNP	G	G	A	rs17847566		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:49391323G>A	uc002pkz.2	-	8	983	c.832C>T	c.(832-834)CGG>TGG	p.R278W		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	278					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGCGCTGGCCGCAGCACGTAG	0.642000												
PPFIA3	8541	broad.mit.edu	37	19	49632105	49632105	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:49632105C>T	uc002pmr.2	+	4	675	c.343C>T	c.(343-345)CTG>TTG	p.L115L	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Silent_p.L39L|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_5'UTR	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	115	Potential.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTGCTTGCAGCTGCTCCTGGA	0.602000												
TEAD2	8463	broad.mit.edu	37	19	49863251	49863251	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:49863251C>T	uc002pnj.2	-	2	173	c.82G>A	c.(82-84)GGC>AGC	p.G28S	TEAD2_uc002png.2_Missense_Mutation_p.G28S|TEAD2_uc002pnh.2_Missense_Mutation_p.G28S|TEAD2_uc002pni.2_Missense_Mutation_p.G28S|TEAD2_uc010yao.1_Intron|TEAD2_uc010emw.2_Missense_Mutation_p.G28S	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	28					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TCACTGCCGCCGGTACCCTCC	0.697000												
SLC17A7	57030	broad.mit.edu	37	19	49934335	49934335	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:49934335G>A	uc002pnp.2	-	11	1498	c.1326C>T	c.(1324-1326)AAC>AAT	p.N442N	SLC17A7_uc002pno.2_Silent_p.N104N	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	442	Helical; (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TGCCCACGCCGTTGGAGATGC	0.622000												
TSKS	60385	broad.mit.edu	37	19	50250722	50250722	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:50250722C>T	uc002ppm.2	-	5	598	c.587G>A	c.(586-588)TGC>TAC	p.C196Y		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	196							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CACCTTCCAGCAGTTCTCCTG	0.582000												
C19orf41	126123	broad.mit.edu	37	19	50666287	50666287	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:50666287G>A	uc002prp.1	-	1	252	c.165C>T	c.(163-165)GCC>GCT	p.A55A		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	55	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)		CCATCAGCACGGCCCCGGCGC	0.667000												
C19orf63	284361	broad.mit.edu	37	19	50983973	50983973	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:50983973C>T	uc002psl.2	+	5	604	c.538C>T	c.(538-540)CTG>TTG	p.L180L	C19orf63_uc002psj.2_Silent_p.L180L|C19orf63_uc002psk.2_Silent_p.L180L	NM_206538	NP_996261	Q5UCC4	INM02_HUMAN	hematopoietic signal peptide-containing isoform	180	Extracellular (Potential).					extracellular region|integral to membrane					0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00733)|GBM - Glioblastoma multiforme(134;0.0252)		GGACCTGGAGCTGTTCAACAC	0.711000												
SYT3	84258	broad.mit.edu	37	19	51140615	51140615	+	Silent	SNP	C	C	T	rs143593640		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:51140615C>T	uc002pst.2	-	1	688	c.54G>A	c.(52-54)TCG>TCA	p.S18S	SYT3_uc002psv.2_Silent_p.S18S|SYT3_uc010ycd.1_Silent_p.S18S	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	18	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)		CACAGAGGTCCGAGACCAGGA	0.632000												
CLEC11A	6320	broad.mit.edu	37	19	51228606	51228606	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:51228606C>T	uc002psy.2	+	4	1032	c.854C>T	c.(853-855)CCG>CTG	p.P285L		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	stem cell growth factor precursor	285	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGCTCAGCCCGGACCAGCCC	0.701000												
SIGLEC10	89790	broad.mit.edu	37	19	51914462	51914462	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:51914462T>A	uc002pwo.2	-	11	2601	c.1985A>T	c.(1984-1986)CAA>CTA	p.Q662L	SIGLEC10_uc002pwp.2_Missense_Mutation_p.Q604L|SIGLEC10_uc002pwq.2_Missense_Mutation_p.Q509L|SIGLEC10_uc002pwr.2_Missense_Mutation_p.Q567L|SIGLEC10_uc010ycy.1_Missense_Mutation_p.Q477L|SIGLEC10_uc010ycz.1_Missense_Mutation_p.Q519L|SIGLEC10_uc010eow.2_Missense_Mutation_p.Q379L	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	662	Cytoplasmic (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GAGCTCCTCTTGGCTCTCCTG	0.557000												
SIGLEC12	89858	broad.mit.edu	37	19	51994931	51994931	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:51994931G>A	uc002pwx.1	-	8	1808	c.1752C>T	c.(1750-1752)ATC>ATT	p.I584I	SIGLEC12_uc002pww.1_Silent_p.I466I|SIGLEC12_uc010eoy.1_Silent_p.I311I	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	584	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACTCATAGCCGATGGCCTCCT	0.582000												
SIGLEC12	89858	broad.mit.edu	37	19	52002839	52002839	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:52002839C>T	uc002pwx.1	-	3	996	c.940G>A	c.(940-942)GTG>ATG	p.V314M	SIGLEC12_uc002pww.1_Missense_Mutation_p.V196M|SIGLEC12_uc010eoy.1_Missense_Mutation_p.V41M	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	314	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGGGAGGACACGGAGGCCCCC	0.667000												
ZNF808	388558	broad.mit.edu	37	19	53058467	53058467	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:53058467C>T	uc010epq.1	+	5	2475	c.2298C>T	c.(2296-2298)AAC>AAT	p.N766N	ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	766	C2H2-type 20.				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)		ACAAGTGTAACGACTGTGGCA	0.443000												
ZNF320	162967	broad.mit.edu	37	19	53384108	53384108	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:53384108C>T	uc002qag.2	-	4	1462	c.1271G>A	c.(1270-1272)CGC>CAC	p.R424H	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R370H|ZNF320_uc002qai.2_Missense_Mutation_p.R424H	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	424	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		GTGTGATTTGCGAATGTAAAC	0.388000												
ZNF816A	125893	broad.mit.edu	37	19	53454224	53454224	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:53454224C>A	uc002qal.1	-	5	1105	c.804G>T	c.(802-804)CAG>CAT	p.Q268H	ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.Q252H	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN	zinc finger protein 816A	268	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0313)		TGTATTGCTTCTGATTAAAGA	0.373000												
KIR2DL1	3802	broad.mit.edu	37	19	55285048	55285048	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:55285048T>C	uc002qhb.1	+	3	372	c.334T>C	c.(334-336)TCA>CCA	p.S112P	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.S112P	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two	112	Extracellular (Potential).				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		CTATCAGGTGTCAGCTCCCAG	0.522000												
SAPS1	22870	broad.mit.edu	37	19	55758396	55758396	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:55758396C>T	uc002qjw.3	-	2	318	c.76G>A	c.(76-78)GAG>AAG	p.E26K	SAPS1_uc002qjv.2_Missense_Mutation_p.E88K	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	26	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCCAGCAGCTCGGGCAGGCTC	0.617000												
FIZ1	84922	broad.mit.edu	37	19	56104137	56104137	+	Silent	SNP	C	C	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:56104137C>G	uc002qli.3	-	3	1260	c.1170G>C	c.(1168-1170)GCG>GCC	p.A390A	FIZ1_uc002qlj.3_Silent_p.A390A	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GGGCGGCGGTCGCCGCCTCCT	0.741000												
EPN1	29924	broad.mit.edu	37	19	56200241	56200241	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:56200241T>C	uc002qlw.2	+	4	826	c.484T>C	c.(484-486)TCA>CCA	p.S162P	EPN1_uc002qlv.2_Missense_Mutation_p.S162P|EPN1_uc010etd.2_Missense_Mutation_p.S162P|EPN1_uc002qlx.2_Missense_Mutation_p.S273P	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform b	162					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		TCCAGCCTCATCAGCAGCTGT	0.672000												
NLRP11	204801	broad.mit.edu	37	19	56303726	56303726	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:56303726G>A	uc010ygf.1	-	9	3165	c.2454C>T	c.(2452-2454)TAC>TAT	p.Y818Y	NLRP11_uc002qlz.2_Silent_p.Y665Y|NLRP11_uc002qmb.2_Silent_p.Y719Y|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	818	LRR 4.						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)		GCAACACTCCGTAATTTTTTA	0.468000												
ZNF444	55311	broad.mit.edu	37	19	56671208	56671208	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:56671208G>A	uc002qmm.2	+	5	989	c.622G>A	c.(622-624)GCC>ACC	p.A208T	ZNF444_uc002qmn.1_Missense_Mutation_p.A207T	NM_018337	NP_060807	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	208	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GAAGCCGCACGCCTGCCCTGA	0.751000												
ZSCAN18	65982	broad.mit.edu	37	19	58596096	58596096	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:58596096C>T	uc002qri.2	-	7	1798	c.1489G>A	c.(1489-1491)GTG>ATG	p.V497M	ZSCAN18_uc002qrj.3_Missense_Mutation_p.V496M|ZSCAN18_uc010yhs.1_Missense_Mutation_p.V361M|ZSCAN18_uc002qrh.2_Missense_Mutation_p.V497M|ZSCAN18_uc010yht.1_Missense_Mutation_p.V553M|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	497					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCGCCCTCCACGCTCTCTGGG	0.746000												
ZNF497	162968	broad.mit.edu	37	19	58867569	58867569	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:58867569G>T	uc002qsh.1	-	3	1622	c.1433C>A	c.(1432-1434)CCT>CAT	p.P478H	A1BG_uc002qsd.3_5'Flank|A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.P478H|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	478	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GTGGCTGAAAGGCTTCCCGCA	0.697000												
PXDN	7837	broad.mit.edu	37	2	1647176	1647176	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:1647176T>C	uc002qxa.2	-	19	3980	c.3916A>G	c.(3916-3918)AGG>GGG	p.R1306G		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1306					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)		AGGTCTACCCTGGGGATCTCG	0.612000												
MYT1L	23040	broad.mit.edu	37	2	1983518	1983518	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:1983518C>T	uc002qxe.2	-	6	859	c.32G>A	c.(31-33)CGC>CAC	p.R11H	MYT1L_uc002qxd.2_Missense_Mutation_p.R11H|MYT1L_uc002qxf.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	11					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGACCGCGTGCGATGCCGCTT	0.617000												
RAD51AP2	729475	broad.mit.edu	37	2	17698848	17698848	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:17698848C>T	uc002rcl.1	-	1	859	c.835G>A	c.(835-837)GCG>ACG	p.A279T	RAD51AP2_uc010exn.1_Missense_Mutation_p.A270T	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	279										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTTTCTTCGCTATTTCCTTT	0.358000												
MFSD2B	388931	broad.mit.edu	37	2	24240221	24240221	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:24240221G>A	uc002reo.1	+	5	551	c.537G>A	c.(535-537)TCG>TCA	p.S179S	MFSD2B_uc010exz.1_Intron	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	179					transport	integral to membrane				ovary(2)	2						AGCGGGACTCGGCCACCGCCT	0.652000												
MFSD2B	388931	broad.mit.edu	37	2	24247037	24247037	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:24247037C>T	uc002reo.1	+	13	1400	c.1386C>T	c.(1384-1386)GGC>GGT	p.G462G		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	462	Helical; (Potential).				transport	integral to membrane				ovary(2)	2						TCCTCATTGGCGCCGTGCCCA	0.607000												
SLC5A6	8884	broad.mit.edu	37	2	27423328	27423328	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:27423328G>A	uc002rjd.2	-	17	2275	c.1884C>T	c.(1882-1884)TGC>TGT	p.C628C	SLC5A6_uc010eyv.1_Silent_p.C628C	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	628					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)	CCTGGAGGATGCAGGTGGAGC	0.607000												
ALK	238	broad.mit.edu	37	2	29462672	29462672	+	Silent	SNP	G	G	A	rs111253753	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:29462672G>A	uc002rmy.2	-	13	3136	c.2229C>T	c.(2227-2229)GGC>GGT	p.G743G		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	743	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CGCCTTTCCCGCCAGCAGCTC	0.592000			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
TTC7A	57217	broad.mit.edu	37	2	47256440	47256440	+	Silent	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:47256440A>G	uc002rvo.2	+	15	2087	c.1719A>G	c.(1717-1719)GCA>GCG	p.A573A	TTC7A_uc002rvm.2_Silent_p.A539A|TTC7A_uc002rvn.1_Silent_p.A454A|TTC7A_uc010fbb.2_Silent_p.A573A|TTC7A_uc010fbc.2_Silent_p.A219A|TTC7A_uc002rvp.2_Silent_p.A454A|TTC7A_uc002rvq.2_Silent_p.A313A|TTC7A_uc002rvr.2_Silent_p.A22A	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	573	TPR 6.						binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ACCTGCTGGCACTGCTCTTCT	0.592000												
SPTBN1	6711	broad.mit.edu	37	2	54858256	54858256	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:54858256C>T	uc002rxu.2	+	16	3321	c.3072C>T	c.(3070-3072)TCC>TCT	p.S1024S	SPTBN1_uc002rxx.2_Silent_p.S1011S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1024	Spectrin 7.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			AGCTGGAGTCCGAGCACCCCG	0.637000												
USP34	9736	broad.mit.edu	37	2	61575984	61575984	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:61575984G>A	uc002sbe.2	-	14	1603	c.1581C>T	c.(1579-1581)AGC>AGT	p.S527S		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	527					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			GATGTGTATCGCTATTATCAC	0.338000												
ADD2	119	broad.mit.edu	37	2	70905913	70905913	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:70905913T>C	uc002sgz.2	-	11	1771	c.1306A>G	c.(1306-1308)ACG>GCG	p.T436A	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.T436A|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.T436A|ADD2_uc010fdt.1_Missense_Mutation_p.T436A|ADD2_uc002shc.1_Missense_Mutation_p.T436A|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.T452A	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	436	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						GTGTTGGGCGTATTGAGCCAG	0.647000												
C2orf7	84279	broad.mit.edu	37	2	73456645	73456645	+	Silent	SNP	G	G	A	rs139180180	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:73456645G>A	uc002siy.2	-	3	290	c.222C>T	c.(220-222)TGC>TGT	p.C74C		NM_032319	NP_115695	Q9BSG0	PADC1_HUMAN	chromosome 2 open reading frame 7 precursor	74						extracellular region					0						TGAGTTCCCCGCAGGCCTCTG	0.537000												
FBXO41	150726	broad.mit.edu	37	2	73492583	73492583	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:73492583C>T	uc002sjb.1	-	5	1574	c.1574G>A	c.(1573-1575)CGC>CAC	p.R525H		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	464						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						GATGGCCTGGCGCCGCAGGCC	0.701000												
ALMS1	7840	broad.mit.edu	37	2	73679208	73679208	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:73679208C>A	uc002sje.1	+	10	5668	c.5557C>A	c.(5557-5559)CCA>ACA	p.P1853T	ALMS1_uc002sjf.1_Missense_Mutation_p.P1809T|ALMS1_uc002sjg.2_Missense_Mutation_p.P1239T|ALMS1_uc002sjh.1_Missense_Mutation_p.P1239T	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1851	28.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TAATTCCTACCCACAGAGAGA	0.453000												
DCTN1	1639	broad.mit.edu	37	2	74597749	74597749	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:74597749C>T	uc002skx.2	-	10	1358	c.1047G>A	c.(1045-1047)AAG>AAA	p.K349K	DCTN1_uc002skv.2_Silent_p.K215K|DCTN1_uc002sku.2_Silent_p.K215K|DCTN1_uc002skw.1_Silent_p.K325K|DCTN1_uc010ffd.2_Silent_p.K329K|DCTN1_uc002sky.2_Silent_p.K312K	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	349	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						GCCCCTTACCCTTCTCTTCAA	0.572000												
LRRTM4	80059	broad.mit.edu	37	2	77746782	77746782	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:77746782G>A	uc002snr.2	-	3	628	c.213C>T	c.(211-213)AAC>AAT	p.N71N	LRRTM4_uc002snq.2_Silent_p.N71N|LRRTM4_uc002sns.2_Silent_p.N71N|LRRTM4_uc002snt.2_Silent_p.N72N	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	71	LRR 1.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		TCTGAATGCTGTTGAACCTTA	0.418000												
ZAP70	7535	broad.mit.edu	37	2	98354293	98354293	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:98354293G>A	uc002syd.1	+	12	1763	c.1556G>A	c.(1555-1557)CGC>CAC	p.R519H	ZAP70_uc002sye.1_Missense_Mutation_p.R409H|ZAP70_uc002syf.1_Missense_Mutation_p.R212H	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	519	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TTCTCCAGCCGCAGCGATGTC	0.647000												
SLC9A4	389015	broad.mit.edu	37	2	103149045	103149045	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:103149045G>T	uc002tbz.3	+	12	2752	c.2295G>T	c.(2293-2295)GAG>GAT	p.E765D		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	765	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						GGGAGAGTGAGGGCAAGGCCT	0.542000												
ZC3H6	376940	broad.mit.edu	37	2	113082135	113082135	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:113082135C>A	uc002thq.1	+	10	2141	c.1747C>A	c.(1747-1749)CAG>AAG	p.Q583K		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	583							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						TGGTGAAATGCAGCTCAACAC	0.443000												
DPP10	57628	broad.mit.edu	37	2	116497367	116497367	+	Silent	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:116497367A>G	uc002tla.1	+	9	1207	c.750A>G	c.(748-750)AGA>AGG	p.R250R	DPP10_uc002tlb.1_Silent_p.R200R|DPP10_uc002tlc.1_Silent_p.R246R|DPP10_uc002tle.2_Silent_p.R254R|DPP10_uc002tlf.1_Silent_p.R243R	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	250	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						ATGGAGAAAGACTTGCCTTCC	0.463000												
MAP3K2	10746	broad.mit.edu	37	2	128083333	128083333	+	Silent	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:128083333A>G	uc002toj.1	-	8	713	c.648T>C	c.(646-648)AGT>AGC	p.S216S	MAP3K2_uc010flz.1_Silent_p.S216S	NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	216					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		GTGATGGACAACTTCCTGAGC	0.303000												
AMMECR1L	83607	broad.mit.edu	37	2	128628889	128628889	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:128628889C>T	uc002tpl.2	-	4	703	c.452G>A	c.(451-453)CGT>CAT	p.R151H	AMMECR1L_uc002tpm.2_Missense_Mutation_p.R151H	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	AMME chromosomal region gene 1-like	151	AMMECR1.									central_nervous_system(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AATGCAGCCACGAAGCCGCTT	0.443000												
ATF2	1386	broad.mit.edu	37	2	175986257	175986257	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:175986257G>A	uc002ujl.2	-	5	376	c.114C>T	c.(112-114)AAC>AAT	p.N38N	ATF2_uc010fqv.2_Nonsense_Mutation_p.R13*|ATF2_uc002ujv.2_Translation_Start_Site|ATF2_uc002ujm.2_Intron|ATF2_uc002ujn.2_Intron|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Silent_p.N38N|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Silent_p.N20N|ATF2_uc002ujs.2_Intron|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_Intron|ATF2_uc002ujw.1_Intron|ATF2_uc002ujx.1_RNA|ATF2_uc002ujy.1_Silent_p.N38N	NM_001880	NP_001871	P15336	ATF2_HUMAN	activating transcription factor 2	38	C2H2-type.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(1)|breast(1)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.125)			AATGATCCTCGTTGGTAAAAC	0.323000												
HOXD13	3239	broad.mit.edu	37	2	176958155	176958155	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:176958155G>A	uc002ukf.1	+	1	624	c.537G>A	c.(535-537)CCG>CCA	p.P179P		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	179					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GCAGCGTACCGGCCAACGAGG	0.607000			T	NUP98	AML*							
TTN	7273	broad.mit.edu	37	2	179416766	179416766	+	Silent	SNP	A	A	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:179416766A>T	uc010zfg.1	-	284	83381	c.83157T>A	c.(83155-83157)CCT>CCA	p.P27719P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P21414P|TTN_uc010zfi.1_Silent_p.P21347P|TTN_uc010zfj.1_Silent_p.P21222P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28646							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACTAGATTAGGAACTTTGA	0.428000												
TTN	7273	broad.mit.edu	37	2	179439492	179439492	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:179439492G>A	uc010zfg.1	-	275	63887	c.63663C>T	c.(63661-63663)ACC>ACT	p.T21221T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T14916T|TTN_uc010zfi.1_Silent_p.T14849T|TTN_uc010zfj.1_Silent_p.T14724T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22148							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTAAGGCGGGTGGCTTTAT	0.448000												
TTN	7273	broad.mit.edu	37	2	179481660	179481660	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:179481660T>G	uc010zfg.1	-	205	40476	c.40252A>C	c.(40252-40254)AGT>CGT	p.S13418R	TTN_uc010zfh.1_Missense_Mutation_p.S7113R|TTN_uc010zfi.1_Missense_Mutation_p.S7046R|TTN_uc010zfj.1_Missense_Mutation_p.S6921R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14345							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCCTGTACTTGGAACCAGG	0.423000												
ASNSD1	54529	broad.mit.edu	37	2	190531174	190531174	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:190531174T>C	uc002uqt.2	+	4	750	c.316T>C	c.(316-318)TCT>CCT	p.S106P		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	106	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TAAGAATGAATCTGAGATTTT	0.328000												
DNAH7	56171	broad.mit.edu	37	2	196759791	196759791	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:196759791C>T	uc002utj.3	-	30	4906	c.4805G>A	c.(4804-4806)CGT>CAT	p.R1602H		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1602	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AAAACCATGACGCACAATCAT	0.373000												
ALS2CR11	151254	broad.mit.edu	37	2	202436664	202436664	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:202436664G>A	uc002uye.2	-	8	881	c.833C>T	c.(832-834)ACA>ATA	p.T278I	ALS2CR11_uc002uyf.2_Missense_Mutation_p.T278I|ALS2CR11_uc010fti.2_Missense_Mutation_p.T278I	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	278										large_intestine(1)|ovary(1)|skin(1)	3						AAACACTTACGTCACGGGATC	0.353000												
ACADL	33	broad.mit.edu	37	2	211069401	211069401	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:211069401G>A	uc002vdz.3	-	7	1002	c.774C>T	c.(772-774)ACC>ACT	p.T258T		NM_001608	NP_001599	P28330	ACADL_HUMAN	long-chain acyl-CoA dehydrogenase precursor	258					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity				0		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATAGTTCTGCGGTATCCTAAG	0.279000												
ERBB4	2066	broad.mit.edu	37	2	212615400	212615400	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:212615400G>A	uc002veg.1	-	5	684	c.586C>T	c.(586-588)CGT>TGT	p.R196C	ERBB4_uc002veh.1_Missense_Mutation_p.R196C|ERBB4_uc010zji.1_Missense_Mutation_p.R196C|ERBB4_uc010zjj.1_Missense_Mutation_p.R196C|ERBB4_uc010fut.1_Missense_Mutation_p.R196C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	196	Cys-rich.|Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCCCAGCAACGGCCAGTACAG	0.453000										TSP Lung(8;0.080)		
OBSL1	23363	broad.mit.edu	37	2	220430066	220430066	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:220430066G>A	uc010fwk.2	-	6	2362	c.2305C>T	c.(2305-2307)CGC>TGC	p.R769C	OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.1_Missense_Mutation_p.R244C|OBSL1_uc002vmi.2_Missense_Mutation_p.R769C|OBSL1_uc002vmj.2_Missense_Mutation_p.R356C	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	769	Ig-like 5.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGGTGTTTGCGCCCATCCATC	0.587000											OREG0003987	type=REGULATORY REGION|Gene=BC061909|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
OBSL1	23363	broad.mit.edu	37	2	220434995	220434995	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:220434995G>A	uc010fwk.2	-	1	1017	c.960C>T	c.(958-960)GCC>GCT	p.A320A	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.A320A|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	320	Ig-like 3.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGTTGCGCGCGGCGCAGACGT	0.697000												
CHRNG	1146	broad.mit.edu	37	2	233409277	233409277	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:233409277G>A	uc002vsx.1	+	10	1257	c.1236G>A	c.(1234-1236)GCG>GCA	p.A412A	CHRNG_uc010fye.1_Silent_p.A360A	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	412	Cytoplasmic (Potential).				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		TGGCGGCAGCGCTGGAGAAGC	0.652000												
UGT1A1	54658	broad.mit.edu	37	2	234669110	234669110	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:234669110C>T	uc002vvb.2	+	1	192	c.177C>T	c.(175-177)GTC>GTT	p.V59V	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.V59V	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	59					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AAATAGTTGTCCTAGCACCTG	0.522000												
GBX2	2637	broad.mit.edu	37	2	237075034	237075034	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:237075034G>A	uc002vvw.1	-	2	608	c.570C>T	c.(568-570)GAC>GAT	p.D190D	GBX2_uc010zng.1_Nonsense_Mutation_p.R193*	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	190				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CCTTCGGGTCGTCTTCCACCT	0.542000												
COL6A3	1293	broad.mit.edu	37	2	238274488	238274488	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:238274488C>T	uc002vwl.2	-	12	5976	c.5691G>A	c.(5689-5691)CCG>CCA	p.P1897P	COL6A3_uc002vwo.2_Silent_p.P1691P|COL6A3_uc010znj.1_Silent_p.P1290P	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1897	VWFA 10.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGCCTCCACCGGGCCCGAGG	0.627000												
TMC2	117532	broad.mit.edu	37	20	2575544	2575544	+	Missense_Mutation	SNP	G	G	A	rs138292313	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:2575544G>A	uc002wgf.1	+	9	1022	c.1007G>A	c.(1006-1008)CGG>CAG	p.R336Q	TMC2_uc002wgg.1_Missense_Mutation_p.R320Q|TMC2_uc010zpw.1_Missense_Mutation_p.R168Q|TMC2_uc010zpx.1_Missense_Mutation_p.R167Q	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	336	Extracellular (Potential).					integral to membrane				ovary(3)	3						CTGAGGTACCGGCTGCCTATG	0.517000												
PTPRA	5786	broad.mit.edu	37	20	3001963	3001963	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:3001963C>T	uc010zqd.1	+	13	1400	c.1083C>T	c.(1081-1083)TGC>TGT	p.C361C	PTPRA_uc002whj.2_Silent_p.C350C|PTPRA_uc002whk.2_Silent_p.C341C|PTPRA_uc002whl.2_Silent_p.C341C|PTPRA_uc002whm.2_Silent_p.C117C|PTPRA_uc002whn.2_Silent_p.C341C|PTPRA_uc002who.2_Silent_p.C13C	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	350	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						AGTGCAAGTGCGCCCAGTACT	0.532000												
ATRN	8455	broad.mit.edu	37	20	3557644	3557644	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:3557644G>A	uc002wim.2	+	14	2443	c.2353G>A	c.(2353-2355)GAA>AAA	p.E785K	ATRN_uc002wil.2_Missense_Mutation_p.E785K	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	785	Extracellular (Potential).|PSI 2.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						TGCCCTGCCCGGTAGGCCTTG	0.577000												
ATRN	8455	broad.mit.edu	37	20	3562942	3562942	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:3562942G>A	uc002wim.2	+	16	2795	c.2705G>A	c.(2704-2706)CGG>CAG	p.R902Q	ATRN_uc002wil.2_Missense_Mutation_p.R902Q	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	902	Extracellular (Potential).|C-type lectin.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						CCCAGTACTCGGGGACTGAAG	0.458000												
SIGLEC1	6614	broad.mit.edu	37	20	3675116	3675116	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:3675116A>T	uc002wja.2	-	12	3008	c.3008T>A	c.(3007-3009)CTC>CAC	p.L1003H	SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Missense_Mutation_p.L1003H	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1003	Ig-like C2-type 10.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						ACGGCACAGGAGGAGGCCCAG	0.677000												
PLCB1	23236	broad.mit.edu	37	20	8639224	8639224	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:8639224G>T	uc002wnb.2	+	9	738	c.735G>T	c.(733-735)ATG>ATT	p.M245I	PLCB1_uc010zrb.1_Missense_Mutation_p.M144I|PLCB1_uc002wna.2_Missense_Mutation_p.M245I|PLCB1_uc002wnc.1_Missense_Mutation_p.M144I	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	245					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						TTGATCAGATGATGGATTTTA	0.323000												
ESF1	51575	broad.mit.edu	37	20	13763472	13763472	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:13763472G>A	uc002woj.2	-	2	423	c.315C>T	c.(313-315)ATC>ATT	p.I105I	ESF1_uc002wok.1_Silent_p.I105I|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	105	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						TTTTTGAATCGATTTCTTTTT	0.303000												
NAA20	51126	broad.mit.edu	37	20	20007472	20007472	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:20007472G>A	uc002wrp.2	+	4	318	c.214G>A	c.(214-216)GGG>AGG	p.G72R	NAA20_uc002wrq.2_Missense_Mutation_p.G72R|NAA20_uc002wrr.2_Missense_Mutation_p.G60R	NM_016100	NP_057184	P61599	NAA20_HUMAN	N-acetyltransferase 5 isoform a	72	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity				0						AGAATGGCACGGGCACGTCAC	0.433000												
GZF1	64412	broad.mit.edu	37	20	23345920	23345920	+	Silent	SNP	A	A	G	rs146870841		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:23345920A>G	uc010gdb.2	+	3	1074	c.900A>G	c.(898-900)GAA>GAG	p.E300E	GZF1_uc002wsy.2_Silent_p.E300E|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Silent_p.E300E	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	300					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					Cggaggaggaagaggaggagg	0.378000												
CBFA2T2	9139	broad.mit.edu	37	20	32232360	32232360	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:32232360G>A	uc002wzg.1	+	12	2260	c.1723G>A	c.(1723-1725)GTG>ATG	p.V575M	CBFA2T2_uc010zug.1_Missense_Mutation_p.V349M|CBFA2T2_uc002wze.1_Missense_Mutation_p.V566M|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Missense_Mutation_p.V546M|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Missense_Mutation_p.V123M	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	575						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						CGACTGCAGCGTGCCCAGCCC	0.662000												
CEP250	11190	broad.mit.edu	37	20	34067839	34067839	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:34067839C>T	uc002xcm.2	+	21	3126	c.2455C>T	c.(2455-2457)CGG>TGG	p.R819W	CEP250_uc010zve.1_Missense_Mutation_p.R187W	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	819	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGACACTGAACGGAGTCAGGC	0.582000												
SRC	6714	broad.mit.edu	37	20	36024669	36024669	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:36024669C>A	uc002xgx.2	+	8	1107	c.658C>A	c.(658-660)CGC>AGC	p.R220S	SRC_uc002xgy.2_Missense_Mutation_p.R220S	NM_005417	NP_005408	P12931	SRC_HUMAN	proto-oncogene tyrosine-protein kinase SRC	220	SH2.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CATCACCTCCCGCACCCAGTT	0.622000												
ACTR5	79913	broad.mit.edu	37	20	37384640	37384640	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:37384640G>A	uc002xjd.2	+	5	1159	c.1134G>A	c.(1132-1134)GCG>GCA	p.A378A		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	378	Potential.				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding				0		Myeloproliferative disorder(115;0.00878)				TCCTCCAAGCGGAAGTCAACC	0.537000												
PLCG1	5335	broad.mit.edu	37	20	39794988	39794988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:39794988C>T	uc002xjp.1	+	17	2075	c.1954C>T	c.(1954-1956)CGA>TGA	p.R652*	PLCG1_uc002xjo.1_Nonsense_Mutation_p.R652*|PLCG1_uc010zwe.1_Nonsense_Mutation_p.R278*|PLCG1_uc010ggf.2_Nonsense_Mutation_p.R2*	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	652	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				GTTTGAGATGCGACTTTCAGA	0.587000												
CHD6	84181	broad.mit.edu	37	20	40112160	40112160	+	Splice_Site	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:40112160C>A	uc002xka.1	-	16	2436	c.2258_splice	c.e16-1	p.G753_splice	CHD6_uc002xkd.2_Splice_Site_p.G731_splice	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TCCTCTGCTCCTGAAAAGGAA	0.433000												
SEMG2	6407	broad.mit.edu	37	20	43850895	43850895	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:43850895C>T	uc010ggz.2	+	2	679	c.622C>T	c.(622-624)CGT>TGT	p.R208C	SEMG2_uc002xnk.2_Missense_Mutation_p.R208C|SEMG2_uc002xnl.2_Missense_Mutation_p.R208C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	208	2-2.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CAAACAACAACGTGAGACTAA	0.398000												
MATN4	8785	broad.mit.edu	37	20	43926884	43926884	+	Missense_Mutation	SNP	C	C	T	rs142628816		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:43926884C>T	uc002xnn.2	-	7	1539	c.1352G>A	c.(1351-1353)CGT>CAT	p.R451H	MATN4_uc002xno.2_Missense_Mutation_p.R410H|MATN4_uc002xnp.2_Missense_Mutation_p.R369H|MATN4_uc010zwr.1_Missense_Mutation_p.R399H|MATN4_uc002xnr.1_Missense_Mutation_p.R451H	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	492	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CAGGCCAACACGAGGCACGTT	0.662000												
SLC2A10	81031	broad.mit.edu	37	20	45354113	45354113	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:45354113C>T	uc002xsl.2	+	2	535	c.438C>T	c.(436-438)GGC>GGT	p.G146G		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	146	Helical; Name=5; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TCACCGTGGGCATCCTGCTCT	0.627000												
PREX1	57580	broad.mit.edu	37	20	47253137	47253137	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:47253137G>A	uc002xtw.1	-	32	4054	c.4031C>T	c.(4030-4032)GCG>GTG	p.A1344V	PREX1_uc002xtv.1_Missense_Mutation_p.A641V	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1344					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCAGGGCCGCCAGCAGCTG	0.687000												
STAU1	6780	broad.mit.edu	37	20	47741116	47741116	+	Silent	SNP	C	C	A	rs139881819		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:47741116C>A	uc002xud.2	-	7	1029	c.618G>T	c.(616-618)CGG>CGT	p.R206R	STAU1_uc002xua.2_Silent_p.R125R|STAU1_uc002xub.2_Silent_p.R131R|STAU1_uc002xuc.2_Silent_p.R125R|STAU1_uc002xue.2_Silent_p.R125R|STAU1_uc002xuf.2_Silent_p.R131R|STAU1_uc002xug.2_Silent_p.R206R	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	206	DRBM 2.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GGCCACTCTCCCGGGCCACCT	0.507000												
ZNF217	7764	broad.mit.edu	37	20	52193262	52193262	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:52193262C>T	uc002xwq.3	-	3	2312	c.2041G>A	c.(2041-2043)GAT>AAT	p.D681N	ZNF217_uc010gij.1_Missense_Mutation_p.D673N	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	681					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCGTGACAATCCACACTTGGC	0.468000												
TFAP2C	7022	broad.mit.edu	37	20	55206438	55206438	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:55206438T>C	uc002xya.2	+	2	469	c.226T>C	c.(226-228)TAC>CAC	p.Y76H	TFAP2C_uc010zzi.1_5'UTR	NM_003222	NP_003213	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma	76	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Colorectal(105;0.229)			GGCCGACCCCTACTCGCATCT	0.706000												
LAMA5	3911	broad.mit.edu	37	20	60913608	60913608	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:60913608C>T	uc002ycq.2	-	12	1601	c.1534G>A	c.(1534-1536)GTG>ATG	p.V512M		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	512	Laminin EGF-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCGTCCCACCCTTGGGTCC	0.662000												
TPD52L2	7165	broad.mit.edu	37	20	62500698	62500698	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:62500698G>A	uc002yhc.2	+	2	198	c.69G>A	c.(67-69)ACG>ACA	p.T23T	TPD52L2_uc002ygy.2_Silent_p.T23T|TPD52L2_uc002ygz.2_Silent_p.T23T|TPD52L2_uc002yha.2_Silent_p.T23T|TPD52L2_uc002yhb.2_Silent_p.T23T|TPD52L2_uc002yhd.2_Silent_p.T23T|TPD52L2_uc011abk.1_5'UTR|TPD52L2_uc011abl.1_Intron	NM_003288	NP_003279	O43399	TPD54_HUMAN	tumor protein D52-like 2 isoform e	23					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			ovary(1)|skin(1)	2	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					ACTCCATGACGGATGTTCCTG	0.517000												
MYT1	4661	broad.mit.edu	37	20	62848507	62848507	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:62848507G>A	uc002yii.2	+	11	2083	c.1719G>A	c.(1717-1719)TTG>TTA	p.L573L	MYT1_uc002yih.2_Silent_p.L275L|MYT1_uc002yij.2_Silent_p.L205L	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	573				ATPRANLA -> RHTQGQLG (in Ref. 5; AAA59897).	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)					GGGCCAACTTGGCCAAGGAGC	0.577000												
SAMSN1	64092	broad.mit.edu	37	21	15882784	15882784	+	Splice_Site	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr21:15882784T>C	uc002yju.1	-	5	492	c.410_splice	c.e5-1	p.S137_splice	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Splice_Site_p.S205_splice	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization						negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTATGCCACCTGATGAAAGCA	0.463000												
GABPA	2551	broad.mit.edu	37	21	27137089	27137089	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr21:27137089G>A	uc002ylx.3	+	9	1654	c.1127G>A	c.(1126-1128)CGT>CAT	p.R376H	GABPA_uc002yly.3_Missense_Mutation_p.R376H	NM_002040	NP_002031	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha	376	ETS.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)|central_nervous_system(1)	2						AAACTCAGTCGTGCATTAAGG	0.328000												
RNF160	26046	broad.mit.edu	37	21	30325581	30325581	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr21:30325581A>G	uc002ymr.2	-	17	3348	c.3335T>C	c.(3334-3336)GTA>GCA	p.V1112A		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1066							ligase activity|zinc ion binding				0						ATTACCAAGTACACGTAAGTT	0.328000												
BRWD1	54014	broad.mit.edu	37	21	40587277	40587277	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr21:40587277G>A	uc002yxk.1	-	32	3810	c.3671C>T	c.(3670-3672)GCG>GTG	p.A1224V	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.A1224V|BRWD1_uc010god.1_Missense_Mutation_p.A190V	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1224	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCAAACTAACGCAGACAGCCT	0.353000												
CBS	875	broad.mit.edu	37	21	44488617	44488617	+	Splice_Site	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr21:44488617A>G	uc002zcu.2	-	4	561	c.316_splice	c.e4+1	p.L106_splice	CBS_uc002zcs.1_5'Flank|CBS_uc002zct.2_Splice_Site_p.L106_splice|CBS_uc002zcw.3_Splice_Site_p.L106_splice|CBS_uc002zcv.2_Splice_Site_p.L106_splice	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase						cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CAGGGCACTCACAGAGCTCAC	0.458000												
ICOSLG	23308	broad.mit.edu	37	21	45657063	45657063	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr21:45657063G>A	uc002zee.2	-	3	227	c.93C>T	c.(91-93)AGC>AGT	p.S31S	ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Silent_p.S31S	NM_015259	NP_056074	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand precursor	31	Ig-like V-type.|Extracellular (Potential).				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding				0				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GCTCCACGTCGCTGCCTACCA	0.502000												
DIP2A	23181	broad.mit.edu	37	21	47987520	47987520	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr21:47987520C>T	uc002zjo.2	+	38	4884	c.4701C>T	c.(4699-4701)GTC>GTT	p.V1567V	DIP2A_uc011afz.1_Silent_p.V1563V|DIP2A_uc002zjs.2_Silent_p.V247V|DIP2A_uc002zjt.2_RNA	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	1567					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCATCTATGTCGCCTACAACA	0.617000												
SCARF2	91179	broad.mit.edu	37	22	20783851	20783851	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:20783851C>T	uc002zsj.1	-	8	1501	c.1396G>A	c.(1396-1398)GCT>ACT	p.A466T	SCARF2_uc002zsk.1_Missense_Mutation_p.A466T	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2 isoform 1	466	Cytoplasmic (Potential).				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCGCGGCAAGCGCAGCAGCAG	0.697000												
PPIL2	23759	broad.mit.edu	37	22	22035655	22035655	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:22035655G>A	uc010gtj.1	+	7	479	c.363G>A	c.(361-363)ACG>ACA	p.T121T	PPIL2_uc002zvh.3_Silent_p.T121T|PPIL2_uc002zvi.3_Silent_p.T121T|PPIL2_uc002zvg.3_Silent_p.T121T|PPIL2_uc011aij.1_Silent_p.T100T	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	peptidylprolyl isomerase-like 2 isoform a	121					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			ovary(2)	2	Colorectal(54;0.105)					CTGTGAGGACGACCGGCAACG	0.587000												
GNAZ	2781	broad.mit.edu	37	22	23437850	23437850	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:23437850G>A	uc002zwu.1	+	2	505	c.-32G>A	c.(-34--30)CCGTG>CCATG		RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z							endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GCCCCATCCCGTGCTCCTTGT	0.647000												
CABIN1	23523	broad.mit.edu	37	22	24563190	24563190	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:24563190A>G	uc002zzi.1	+	32	5718	c.5591A>G	c.(5590-5592)TAC>TGC	p.Y1864C	CABIN1_uc002zzj.1_Missense_Mutation_p.Y1785C|CABIN1_uc002zzl.1_Missense_Mutation_p.Y1864C|CABIN1_uc002zzm.1_Missense_Mutation_p.Y289C	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1864					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						TTGGATGCCTACCGTGTGTGG	0.632000												
SEZ6L	23544	broad.mit.edu	37	22	26743798	26743798	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:26743798G>A	uc003acb.2	+	11	2482	c.2326G>A	c.(2326-2328)GGC>AGC	p.G776S	SEZ6L_uc003acc.2_Missense_Mutation_p.G776S|SEZ6L_uc011akc.1_Missense_Mutation_p.G776S|SEZ6L_uc003acd.2_Missense_Mutation_p.G776S|SEZ6L_uc011akd.1_Missense_Mutation_p.G776S|SEZ6L_uc003ace.2_Missense_Mutation_p.G776S|SEZ6L_uc003acf.1_Missense_Mutation_p.G549S|SEZ6L_uc010gvc.1_Missense_Mutation_p.G549S|SEZ6L_uc011ake.1_RNA	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	776	Sushi 3.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GTGTGACCCCGGCTATGACAT	0.557000												
KREMEN1	83999	broad.mit.edu	37	22	29534746	29534746	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:29534746A>G	uc011akm.1	+	7	1112	c.1099A>G	c.(1099-1101)AGC>GGC	p.S367G	KREMEN1_uc003ael.2_Missense_Mutation_p.S367G|KREMEN1_uc011akn.1_Missense_Mutation_p.S250G	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	kringle-containing transmembrane protein 1	365	Extracellular (Potential).				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			ovary(3)|lung(2)	5						CACCAGCCCCAGCCACCCACC	0.592000												
THOC5	8563	broad.mit.edu	37	22	29940500	29940500	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:29940500C>A	uc003afr.2	-	4	524	c.189G>T	c.(187-189)CAG>CAT	p.Q63H	THOC5_uc003afs.2_Missense_Mutation_p.Q63H|THOC5_uc003aft.2_Missense_Mutation_p.Q63H|THOC5_uc003afu.2_Missense_Mutation_p.Q63H|THOC5_uc010gvo.2_5'UTR|THOC5_uc003afv.1_Missense_Mutation_p.Q63H|THOC5_uc003afw.1_5'Flank	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN	THO complex 5	63	Interaction with THOC7.|Interaction with CSF1R (By similarity).				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			breast(3)	3						CCATCAGCCTCTGTAGCTCCT	0.542000												
C22orf42	150297	broad.mit.edu	37	22	32546324	32546324	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:32546324G>A	uc003amd.2	-	7	677	c.636C>T	c.(634-636)GAC>GAT	p.D212D		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	212										ovary(1)|skin(1)	2						GTGTCATGAGGTCTTCAAGAG	0.398000												
MYH9	4627	broad.mit.edu	37	22	36684413	36684413	+	Missense_Mutation	SNP	G	G	A	rs145319741		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:36684413G>A	uc003apg.2	-	34	5048	c.4817C>T	c.(4816-4818)TCG>TTG	p.S1606L		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1606	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CACTGCCATCGAGCGCTGCTT	0.617000			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
MYH9	4627	broad.mit.edu	37	22	36693034	36693034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:36693034G>A	uc003apg.2	-	25	3358	c.3127C>T	c.(3127-3129)CGA>TGA	p.R1043*		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1043	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						AGCTCCTGTCGCTGCTTCTCC	0.597000			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
CSF2RB	1439	broad.mit.edu	37	22	37332596	37332596	+	Silent	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:37332596G>T	uc003aqa.3	+	13	1687	c.1470G>T	c.(1468-1470)GGG>GGT	p.G490G	CSF2RB_uc003aqc.3_Silent_p.G496G	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	490	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	TGCAGAACGGGAGCGCAGAGC	0.667000												
IL2RB	3560	broad.mit.edu	37	22	37524250	37524250	+	Silent	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:37524250G>T	uc003aqv.1	-	10	1673	c.1542C>A	c.(1540-1542)TCC>TCA	p.S514S		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	514	Cytoplasmic (Potential).				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CAGGAGGCCTGGACCAGGGGA	0.637000												
NPTXR	23467	broad.mit.edu	37	22	39222674	39222674	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:39222674C>T	uc003awk.2	-	3	1083	c.929G>A	c.(928-930)CGG>CAG	p.R310Q		NM_014293	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	310	Pentaxin.|Extracellular (Potential).					integral to membrane	metal ion binding			central_nervous_system(2)|skin(1)	3	Melanoma(58;0.04)					CAGAGCCTTCCGCACGCGGGC	0.632000												
PDGFB	5155	broad.mit.edu	37	22	39621798	39621798	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:39621798G>T	uc003axf.2	-	6	1645	c.656C>A	c.(655-657)CCC>CAC	p.P219H	PDGFB_uc003axe.2_Missense_Mutation_p.P204H	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	219					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	p.P219P(1)	COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	CTTGCCCTTGGGGGGCCGGCG	0.597000			T	COL1A1	DFSP							
PDGFB	5155	broad.mit.edu	37	22	39631827	39631827	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:39631827C>T	uc003axf.2	-	2	1105	c.116G>A	c.(115-117)CGC>CAC	p.R39H	PDGFB_uc003axe.2_Missense_Mutation_p.R24H	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	39					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	ATCAAAGGAGCGGATCGAGTG	0.602000			T	COL1A1	DFSP							
ENTHD1	150350	broad.mit.edu	37	22	40140075	40140075	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:40140075A>G	uc003ayg.2	-	7	1684	c.1433T>C	c.(1432-1434)GTG>GCG	p.V478A		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	478										ovary(2)|skin(1)	3	Melanoma(58;0.0749)					ATCAGAAGACACTGGGCCCCT	0.408000												
TTLL1	25809	broad.mit.edu	37	22	43442449	43442449	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:43442449G>A	uc003bdi.2	-	10	1350	c.1109C>T	c.(1108-1110)CCA>CTA	p.P370L	TTLL1_uc010gzh.2_Missense_Mutation_p.P341L|TTLL1_uc003bdj.2_Missense_Mutation_p.P256L|TTLL1_uc003bdh.2_Missense_Mutation_p.P332L	NM_012263	NP_036395	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	370					protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			skin(1)	1		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TTCCTTAGGTGGCGACTTGTT	0.502000												
PKDREJ	10343	broad.mit.edu	37	22	46657156	46657156	+	Silent	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:46657156C>A	uc003bhh.2	-	1	2064	c.2064G>T	c.(2062-2064)GTG>GTT	p.V688V		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	688	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACTTGGTCCCACGGTGAAAC	0.398000												
CELSR1	9620	broad.mit.edu	37	22	46760632	46760632	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:46760632C>T	uc003bhw.1	-	33	8556	c.8556G>A	c.(8554-8556)GGG>GGA	p.G2852G		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2852	Cytoplasmic (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCACAGCGTCCCCTGAGGCAC	0.677000												
TUBGCP6	85378	broad.mit.edu	37	22	50660233	50660233	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:50660233G>A	uc003bkb.1	-	16	3067	c.2555C>T	c.(2554-2556)TCG>TTG	p.S852L	TUBGCP6_uc003bka.1_5'UTR|TUBGCP6_uc010har.1_Missense_Mutation_p.S844L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Missense_Mutation_p.S48L	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	852					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCAGGCAGGCGAGTGTTGCTC	0.647000												
TUBGCP6	85378	broad.mit.edu	37	22	50662832	50662832	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:50662832G>A	uc003bkb.1	-	12	2595	c.2083C>T	c.(2083-2085)CGG>TGG	p.R695W	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Missense_Mutation_p.R695W|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Translation_Start_Site|TUBGCP6_uc003bkd.1_Missense_Mutation_p.R49W	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	695					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AAGGCCATCCGTTCTGACATC	0.602000												
TUBGCP6	85378	broad.mit.edu	37	22	50664481	50664481	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:50664481G>A	uc003bkb.1	-	9	2343	c.1831C>T	c.(1831-1833)CGG>TGG	p.R611W	TUBGCP6_uc010har.1_Missense_Mutation_p.R611W|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	611					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTCCTCACCCGGGGGCAGCAG	0.597000												
ITPR1	3708	broad.mit.edu	37	3	4816936	4816936	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:4816936G>A	uc003bqa.2	+	44	6194	c.5846G>A	c.(5845-5847)CGT>CAT	p.R1949H	ITPR1_uc010hca.1_Missense_Mutation_p.R1934H|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.R919H	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1997	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACTTCCTCCGTTGCCAAAAT	0.483000												
THUMPD3	25917	broad.mit.edu	37	3	9426229	9426229	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:9426229G>A	uc003bro.3	+	10	1529	c.1381G>A	c.(1381-1383)GTA>ATA	p.V461I	LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Missense_Mutation_p.V461I	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	461							methyltransferase activity|protein binding|RNA binding			ovary(1)	1	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		AATGCGACACGTATGGCGAAA	0.418000												
SATB1	6304	broad.mit.edu	37	3	18391065	18391065	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:18391065G>A	uc003cbh.2	-	11	3624	c.1889C>T	c.(1888-1890)ACG>ATG	p.T630M	SATB1_uc003cbi.2_Missense_Mutation_p.T662M|SATB1_uc003cbj.2_Missense_Mutation_p.T630M	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	630					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						AGAGGCCACCGTGGGTTGCCG	0.502000												
KCNH8	131096	broad.mit.edu	37	3	19389429	19389429	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:19389429C>T	uc003cbk.1	+	5	978	c.783C>T	c.(781-783)GAC>GAT	p.D261D	KCNH8_uc011awe.1_Silent_p.D261D|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	261	Helical; Name=Segment S2; (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CCGTCAGTGACATTGCAGTGG	0.403000												
KCNH8	131096	broad.mit.edu	37	3	19554720	19554720	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:19554720G>T	uc003cbk.1	+	13	2533	c.2338G>T	c.(2338-2340)GAA>TAA	p.E780*	KCNH8_uc010hex.1_Nonsense_Mutation_p.E241*	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	780	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						AACCAAGCAGGAAATTGACCC	0.478000												
TGFBR2	7048	broad.mit.edu	37	3	30713880	30713880	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:30713880T>C	uc003ceo.2	+	4	1587	c.1205T>C	c.(1204-1206)CTG>CCG	p.L402P	TGFBR2_uc003cen.2_Missense_Mutation_p.L427P	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	402	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						GGGCTTTCCCTGCGTCTGGAC	0.562000												
VILL	50853	broad.mit.edu	37	3	38045884	38045884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:38045884G>A	uc003chj.2	+	16	2230	c.1944G>A	c.(1942-1944)TGG>TGA	p.W648*	VILL_uc003chl.2_Nonsense_Mutation_p.W648*	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	648	Gelsolin-like 6.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGACACCTGGCAGGAGGTAA	0.562000											OREG0015475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SCN5A	6331	broad.mit.edu	37	3	38591857	38591857	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:38591857G>A	uc003cio.2	-	28	6200	c.6006C>T	c.(6004-6006)GCC>GCT	p.A2002A	SCN5A_uc003cin.2_Silent_p.A2001A|SCN5A_uc003cil.3_Silent_p.A2002A|SCN5A_uc010hhi.2_Silent_p.A1984A|SCN5A_uc010hhk.2_Silent_p.A1969A|SCN5A_uc011ayr.1_Silent_p.A1948A	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	2002					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGGGGAAGTCGGCGAGATCTT	0.592000												
NKTR	4820	broad.mit.edu	37	3	42674107	42674107	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:42674107A>G	uc003clo.2	+	9	712	c.565A>G	c.(565-567)AGG>GGG	p.R189G	NKTR_uc003clm.1_5'UTR|NKTR_uc003clp.2_5'UTR|NKTR_uc011azp.1_Missense_Mutation_p.R79G|NKTR_uc003clq.1_Missense_Mutation_p.R79G|NKTR_uc003clr.1_5'UTR|NKTR_uc003cls.2_5'UTR	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	189					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGAAAAAAAGGAAGAAACC	0.328000												
CDCP1	64866	broad.mit.edu	37	3	45153659	45153659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:45153659C>A	uc003com.2	-	3	706	c.571G>T	c.(571-573)GGA>TGA	p.G191*	CDCP1_uc003con.2_Nonsense_Mutation_p.G191*	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	191	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ATTTTCACTCCTTCTTGCATC	0.542000												
LIMD1	8994	broad.mit.edu	37	3	45637136	45637136	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:45637136C>T	uc003coq.2	+	1	814	c.765C>T	c.(763-765)AGC>AGT	p.S255S		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	255					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)		GTGGCCGCAGCAGCGAGAAGC	0.632000												
LZTFL1	54585	broad.mit.edu	37	3	45877148	45877148	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:45877148T>C	uc003cox.1	-	3	395	c.257A>G	c.(256-258)CAG>CGG	p.Q86R	LZTFL1_uc003coy.1_Missense_Mutation_p.Q69R|LZTFL1_uc011bak.1_RNA	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	86											0				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TGCAAACAGCTGTCGCAGAAG	0.413000												
LTF	4057	broad.mit.edu	37	3	46497878	46497878	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:46497878G>A	uc003cpq.2	-	3	256	c.218C>T	c.(217-219)GCC>GTC	p.A73V	LTF_uc003fzr.2_Missense_Mutation_p.A29V|LTF_uc010hjh.2_Missense_Mutation_p.A73V|LTF_uc003cpr.2_Missense_Mutation_p.A60V	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	73	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CACAGCATCGGCCCTGTTTTC	0.542000												
KIF9	64147	broad.mit.edu	37	3	47277592	47277592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:47277592G>A	uc010hjp.2	-	20	2753	c.2149C>T	c.(2149-2151)CAG>TAG	p.Q717*	KIF9_uc003cqx.2_Nonsense_Mutation_p.Q717*|KIF9_uc003cqy.2_Nonsense_Mutation_p.Q652*|KIF9_uc011bat.1_RNA|uc003cqw.1_RNA	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	717					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTGCCATCTGCATGTCCTCA	0.567000												
ZNF589	51385	broad.mit.edu	37	3	48310025	48310025	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:48310025G>T	uc003csl.3	+	4	910	c.844G>T	c.(844-846)GGG>TGG	p.G282W	ZNF589_uc010hjt.1_Missense_Mutation_p.G279W|ZNF589_uc003csn.2_RNA|ZNF589_uc011bbg.1_Intron|ZNF589_uc003csm.2_Intron	NM_016089	NP_057173	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	282	C2H2-type 2.				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGAGAGTGTGGGCGAGGCTT	0.547000												
MAPKAPK3	7867	broad.mit.edu	37	3	50683579	50683579	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:50683579G>A	uc003day.1	+	10	1309	c.713G>A	c.(712-714)GGC>GAC	p.G238D	MAPKAPK3_uc003daz.1_Missense_Mutation_p.G238D|MAPKAPK3_uc003dba.1_Missense_Mutation_p.G238D|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.G238D	NM_004635	NP_004626	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated	238	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGCCTTTGTGGCTTCCCACCC	0.607000												
TLR9	54106	broad.mit.edu	37	3	52257585	52257585	+	Silent	SNP	G	G	A	rs140856643	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:52257585G>A	uc003dda.1	-	2	1381	c.747C>T	c.(745-747)CTC>CTT	p.L249L	TLR9_uc003ddb.2_Silent_p.L346L	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	249	LRR 8.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CGCCCACATCGAGCACACGCA	0.622000												
NISCH	11188	broad.mit.edu	37	3	52523363	52523363	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:52523363G>A	uc011beg.1	+	18	3197	c.3125G>A	c.(3124-3126)CGT>CAT	p.R1042H	NISCH_uc003ded.3_Missense_Mutation_p.R1042H|NISCH_uc003dee.3_Missense_Mutation_p.R531H|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1042					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		AATGACCAGCGTCCCCAGGAG	0.343000												
CACNA1D	776	broad.mit.edu	37	3	53766961	53766961	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:53766961G>A	uc003dgv.3	+	19	2756	c.2593G>A	c.(2593-2595)GCT>ACT	p.A865T	CACNA1D_uc003dgu.3_Missense_Mutation_p.A885T|CACNA1D_uc003dgy.3_Missense_Mutation_p.A865T|CACNA1D_uc003dgw.3_Missense_Mutation_p.A532T|CACNA1D_uc003dgx.1_Missense_Mutation_p.A13T	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	865	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGAAGGGAGCGCTTTCTTCAT	0.507000												
CCDC66	285331	broad.mit.edu	37	3	56651334	56651334	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:56651334C>T	uc003dhz.2	+	14	2125	c.2038C>T	c.(2038-2040)CAG>TAG	p.Q680*	CCDC66_uc003dhy.2_Nonsense_Mutation_p.Q316*|CCDC66_uc003dhu.2_Nonsense_Mutation_p.Q646*|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_Nonsense_Mutation_p.Q48*	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	680										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GTGTAATGACCAGTGTAATCA	0.353000												
FLNB	2317	broad.mit.edu	37	3	58121816	58121816	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:58121816C>T	uc003djj.2	+	28	4947	c.4782C>T	c.(4780-4782)TAC>TAT	p.Y1594Y	FLNB_uc010hne.2_Silent_p.Y1625Y|FLNB_uc003djk.2_Silent_p.Y1594Y|FLNB_uc010hnf.2_Silent_p.Y1594Y|FLNB_uc003djl.2_Silent_p.Y1425Y|FLNB_uc003djm.2_Silent_p.Y1425Y	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1594	Filamin 14.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAGTCACCTACGGGGGTGACG	0.537000												
CNTN3	5067	broad.mit.edu	37	3	74418379	74418379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:74418379G>A	uc003dpm.1	-	7	987	c.907C>T	c.(907-909)CGA>TGA	p.R303*		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	303	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTTTTCCTCGTGAATTCTCA	0.398000												
OR5K1	26339	broad.mit.edu	37	3	98188635	98188635	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:98188635G>T	uc003dsm.2	+	1	215	c.215G>T	c.(214-216)TGC>TTC	p.C72F		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1						GTGGATTCTTGCTGTGCCTGT	0.418000												
PVRL3	25945	broad.mit.edu	37	3	110831167	110831167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:110831167G>A	uc003dxt.1	+	2	451	c.451G>A	c.(451-453)GTT>ATT	p.V151I	PVRL3_uc003dxu.1_Missense_Mutation_p.V128I	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	151	Extracellular (Potential).|Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2						CTGCAAAGCTGTTACATTCCC	0.363000												
HCLS1	3059	broad.mit.edu	37	3	121350739	121350739	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:121350739C>T	uc003eeh.3	-	14	1540	c.1415G>A	c.(1414-1416)GGC>GAC	p.G472D	HCLS1_uc011bjj.1_Missense_Mutation_p.G435D	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	472	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)		TCCAAAGTGGCCATGGCAACG	0.522000												
CASR	846	broad.mit.edu	37	3	122002860	122002860	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:122002860A>G	uc003eev.3	+	7	2431	c.2059A>G	c.(2059-2061)AGC>GGC	p.S687G	CASR_uc003eew.3_Missense_Mutation_p.S697G	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	687	Helical; Name=3; (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTTGGCATCAGCTTCGTGCT	0.617000												
DTX3L	151636	broad.mit.edu	37	3	122284875	122284875	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:122284875T>C	uc003efk.2	+	2	446	c.357T>C	c.(355-357)CAT>CAC	p.H119H	DTX3L_uc010hrj.2_Silent_p.H119H|PARP9_uc003eff.3_5'Flank|PARP9_uc010hri.2_5'Flank|PARP9_uc011bjs.1_5'Flank|PARP9_uc003efg.2_5'Flank|PARP9_uc003efi.2_5'Flank|PARP9_uc003efh.2_5'Flank|PARP9_uc003efj.2_5'Flank	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	119					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)	4				GBM - Glioblastoma multiforme(114;0.0459)		TGCATCAACATGAAGGACATA	0.458000												
AMOTL2	51421	broad.mit.edu	37	3	134089854	134089854	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:134089854C>T	uc003eqf.2	-	2	713	c.596G>A	c.(595-597)CGG>CAG	p.R199Q	AMOTL2_uc003eqg.1_Missense_Mutation_p.R141Q|AMOTL2_uc003eqh.1_Missense_Mutation_p.R141Q	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	141										large_intestine(1)	1						GTCCTGCCTCCGACTGCCTCC	0.706000												
NCK1	4690	broad.mit.edu	37	3	136664679	136664679	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:136664679A>G	uc003erh.2	+	3	588	c.481A>G	c.(481-483)ACT>GCT	p.T161A	NCK1_uc011bme.1_Missense_Mutation_p.T97A	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	161	SH3 2.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1						AAACTATGTAACTGAAGAAGG	0.463000												
COMMD2	51122	broad.mit.edu	37	3	149459487	149459487	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:149459487T>C	uc003exk.2	-	5	468	c.421A>G	c.(421-423)AGG>GGG	p.R141G	COMMD2_uc003exj.1_5'Flank	NM_016094	NP_057178	Q86X83	COMD2_HUMAN	COMM domain containing 2	141	COMM.						protein binding				0			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATCTGTTGCCTGAGACTTCTA	0.343000												
P2RY1	5028	broad.mit.edu	37	3	152554180	152554180	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:152554180C>T	uc003ezq.2	+	1	1445	c.609C>T	c.(607-609)TAC>TAT	p.Y203Y		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	203	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCACCTGTTACGACACCACCT	0.537000												
SLITRK3	22865	broad.mit.edu	37	3	164906366	164906366	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:164906366G>A	uc003fej.3	-	2	2697	c.2253C>T	c.(2251-2253)TGC>TGT	p.C751C	SLITRK3_uc003fek.2_Silent_p.C751C	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	751	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						TGGGGTTGTTGCACATTTGGG	0.527000										HNSCC(40;0.11)		
BCHE	590	broad.mit.edu	37	3	165548346	165548346	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:165548346T>G	uc003fem.3	-	2	636	c.476A>C	c.(475-477)AAG>ACG	p.K159T	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	159					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AGCCAGAAACTTGCCATCATA	0.428000												
MYNN	55892	broad.mit.edu	37	3	169497261	169497261	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:169497261T>C	uc003fft.2	+	3	1401	c.972T>C	c.(970-972)CAT>CAC	p.H324H	MYNN_uc011bpm.1_Silent_p.H210H|MYNN_uc003ffu.2_Silent_p.H324H|MYNN_uc003ffv.2_Silent_p.H51H|MYNN_uc010hwo.2_Silent_p.H324H|MYNN_uc003ffw.1_RNA	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	324	C2H2-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TGAGAATACATAAAGGAGTCA	0.448000												
PLD1	5337	broad.mit.edu	37	3	171330108	171330108	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:171330108G>A	uc003fhs.2	-	25	2959	c.2843C>T	c.(2842-2844)GCT>GTT	p.A948V	PLD1_uc003fht.2_Missense_Mutation_p.A910V|PLD1_uc003fhu.3_Missense_Mutation_p.A242V	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	948					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AAACCGGCCAGCTTGGTACTC	0.522000												
ACTL6A	86	broad.mit.edu	37	3	179305773	179305773	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:179305773A>C	uc003fjw.2	+	14	1438	c.1265A>C	c.(1264-1266)CAG>CCG	p.Q422P	ACTL6A_uc003fjx.2_Missense_Mutation_p.Q380P|ACTL6A_uc003fjy.2_Missense_Mutation_p.Q380P	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	422					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GGAGGGAAGCAGTGTGTAGAA	0.368000												
KLHL6	89857	broad.mit.edu	37	3	183273234	183273234	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:183273234C>T	uc003flr.2	-	1	266	c.208G>A	c.(208-210)GCT>ACT	p.A70T	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.A68T	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	70										haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCTGTCAGAGCGTTTTCCATT	0.502000												
EHHADH	1962	broad.mit.edu	37	3	184922258	184922258	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:184922258C>T	uc003fpf.2	-	6	883	c.856G>A	c.(856-858)GGA>AGA	p.G286R	EHHADH_uc011brs.1_Missense_Mutation_p.G190R	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	286	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CACGATGCTCCGGAGGGAGTT	0.488000												
LPP	4026	broad.mit.edu	37	3	188242523	188242523	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:188242523G>A	uc003frs.1	+	5	623	c.377G>A	c.(376-378)AGC>AAC	p.S126N	LPP_uc011bsg.1_Missense_Mutation_p.S126N|LPP_uc011bsi.1_Missense_Mutation_p.S126N|LPP_uc003frt.2_Missense_Mutation_p.S126N	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	126	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCCTTGACCAGCATCTTGGCT	0.542000			T	HMGA2|MLL|C12orf9	lipoma|leukemia							
CCDC50	152137	broad.mit.edu	37	3	191097971	191097971	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:191097971G>T	uc003fsw.2	+	6	1062	c.472G>T	c.(472-474)GAA>TAA	p.E158*	CCDC50_uc003fsv.2_Nonsense_Mutation_p.E334*	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	Ymer protein short isoform	158						cytoplasm	protein binding				0	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGTGATGAAAGAAGCTGTATC	0.348000												
HTT	3064	broad.mit.edu	37	4	3230455	3230455	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:3230455G>A	uc011bvq.1	+	59	8113	c.7968G>A	c.(7966-7968)ACG>ACA	p.T2656T		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2654					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CACCACCCACGTCTCCAGTCA	0.388000												
EVC	2121	broad.mit.edu	37	4	5733298	5733298	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:5733298C>T	uc003gil.1	+	4	715	c.531C>T	c.(529-531)AGC>AGT	p.S177S	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	177					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				CCTCATCCAGCGTCCACTCGG	0.632000												
CPZ	8532	broad.mit.edu	37	4	8603164	8603164	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:8603164T>C	uc003glm.2	+	3	562	c.436T>C	c.(436-438)TGC>CGC	p.C146R	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.C9R|CPZ_uc003glo.2_Missense_Mutation_p.C135R|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	146	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						CTTCCTTGACTGCCACCGCTA	0.657000												
DRD5	1816	broad.mit.edu	37	4	9783746	9783746	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:9783746G>A	uc003gmb.3	+	1	489	c.93G>A	c.(91-93)GCG>GCA	p.A31A		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	31	Extracellular (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGGGCTCGGCGGGGGCACCGC	0.697000												
CC2D2A	57545	broad.mit.edu	37	4	15569074	15569074	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:15569074C>A	uc010idv.2	+	26	3502	c.3257C>A	c.(3256-3258)CCA>CAA	p.P1086Q	CC2D2A_uc003gnx.2_Missense_Mutation_p.P1037Q|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1086	C2.				cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						ACGTACAGCCCAACCCACAAT	0.478000												
TBC1D1	23216	broad.mit.edu	37	4	38097694	38097694	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:38097694A>G	uc003gtb.2	+	14	2724	c.2381A>G	c.(2380-2382)CAC>CGC	p.H794R	TBC1D1_uc011byd.1_Missense_Mutation_p.H888R|TBC1D1_uc010ifd.2_Missense_Mutation_p.H581R	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	794						nucleus	Rab GTPase activator activity			ovary(1)	1						GAAAAAATGCACTCGGCTGTT	0.408000												
EPHA5	2044	broad.mit.edu	37	4	66189927	66189927	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:66189927G>A	uc003hcy.2	-	18	3212	c.3019C>T	c.(3019-3021)CGG>TGG	p.R1007W	EPHA5_uc003hcx.2_Missense_Mutation_p.R939W|EPHA5_uc003hcz.2_Missense_Mutation_p.R985W|EPHA5_uc011cah.1_Missense_Mutation_p.R1008W|EPHA5_uc011cai.1_Missense_Mutation_p.R986W	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	1007	Cytoplasmic (Potential).|SAM.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.R1007Q(1)		lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						ACTCCAAGCCGTCTCAAATCC	0.438000										TSP Lung(17;0.13)		
NPFFR2	10886	broad.mit.edu	37	4	73012934	73012934	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:73012934T>G	uc003hgg.2	+	4	1072	c.974T>G	c.(973-975)CTG>CGG	p.L325R	NPFFR2_uc010iig.1_Missense_Mutation_p.L107R|NPFFR2_uc003hgi.2_Missense_Mutation_p.L226R|NPFFR2_uc003hgh.2_Missense_Mutation_p.L223R|NPFFR2_uc003hgj.2_RNA	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	325	Helical; Name=5; (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ACCACTGTGCTGTTTGCCAAC	0.502000												
USO1	8615	broad.mit.edu	37	4	76731599	76731599	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:76731599G>T	uc003hiu.2	+	21	2665	c.2490G>T	c.(2488-2490)GAG>GAT	p.E830D	USO1_uc003hiv.2_Missense_Mutation_p.E672D|USO1_uc003hiw.2_Missense_Mutation_p.E665D	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	830	Potential.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AATCAGTTGAGGTACAAGGAG	0.338000												
NAAA	27163	broad.mit.edu	37	4	76842262	76842262	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:76842262C>T	uc003hjb.2	-	6	745	c.681G>A	c.(679-681)TCG>TCA	p.S227S	NAAA_uc003hja.2_Silent_p.S227S|NAAA_uc003hjc.3_Silent_p.S227S|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Silent_p.S126S	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	227					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1						CGAAGTTTTCCGACTCACTCA	0.517000												
FRAS1	80144	broad.mit.edu	37	4	79328882	79328882	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:79328882G>A	uc003hlb.2	+	31	4635	c.4195G>A	c.(4195-4197)GAT>AAT	p.D1399N	FRAS1_uc003hkw.2_Missense_Mutation_p.D1399N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1398	CSPG 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						GCACCTGCCTGATGGGAGGAC	0.587000												
HNRPDL	9987	broad.mit.edu	37	4	83347709	83347709	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:83347709C>A	uc003hmr.2	-	6	1634	c.1099G>T	c.(1099-1101)GGT>TGT	p.G367C	HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Intron	NM_031372	NP_112740	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	367	Tyr-rich.|Necessary for interaction with TNPO1.|Gly-rich.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			skin(1)	1		Hepatocellular(203;0.114)				TTTTGATCACCACCATAGGCA	0.383000												
ARHGAP24	83478	broad.mit.edu	37	4	86915861	86915861	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:86915861A>G	uc003hpk.2	+	9	1503	c.1054A>G	c.(1054-1056)AAA>GAA	p.K352E	ARHGAP24_uc003hpl.2_Missense_Mutation_p.K257E|ARHGAP24_uc010ikf.2_Missense_Mutation_p.K267E|ARHGAP24_uc003hpm.2_Missense_Mutation_p.K259E	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	352					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AATTCAGAAGAAAGCCACCAT	0.473000												
IBSP	3381	broad.mit.edu	37	4	88733020	88733020	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:88733020C>T	uc003hqx.3	+	7	1010	c.912C>T	c.(910-912)GGC>GGT	p.G304G		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	304					biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AAGGACAAGGCTACGATGGCT	0.463000												
CXXC4	80319	broad.mit.edu	37	4	105412446	105412446	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:105412446G>A	uc003hxg.2	-	1	22	c.7C>T	c.(7-9)CAC>TAC	p.H3Y	uc003hxh.1_Intron|CXXC4_uc010ilo.2_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	CXXC finger 4	3					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TCGTTTCGGTGGTGCATGCTG	0.383000												
COL25A1	84570	broad.mit.edu	37	4	110223177	110223177	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:110223177G>A	uc003hze.1	-	2	530	c.-1C>T	c.(-3-1)CACGA>CATGA		COL25A1_uc003hzg.2_Translation_Start_Site|COL25A1_uc003hzh.1_Translation_Start_Site	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1							collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CAGCAGCATCGTGGCGGGGTC	0.602000												
FAT4	79633	broad.mit.edu	37	4	126370366	126370366	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:126370366A>G	uc003ifj.3	+	9	8195	c.8195A>G	c.(8194-8196)GAC>GGC	p.D2732G	FAT4_uc011cgp.1_Missense_Mutation_p.D1030G|FAT4_uc003ifi.1_Missense_Mutation_p.D210G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2732	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AGACCTTTGGACAGGGAAAAA	0.358000												
FAT4	79633	broad.mit.edu	37	4	126412392	126412392	+	Silent	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:126412392C>A	uc003ifj.3	+	17	14415	c.14415C>A	c.(14413-14415)ATC>ATA	p.I4805I	FAT4_uc011cgp.1_Silent_p.I3046I|FAT4_uc003ifi.1_Silent_p.I2282I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4805	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACCCAAGTATCTGCAGTGCAG	0.522000												
PCDH10	57575	broad.mit.edu	37	4	134071731	134071731	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:134071731G>A	uc003iha.2	+	1	1262	c.436G>A	c.(436-438)GCA>ACA	p.A146T	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.A146T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	146	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CTTGGAGAGCGCATTCGACCC	0.617000												
GAB1	2549	broad.mit.edu	37	4	144359520	144359520	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:144359520G>A	uc003ije.2	+	4	1321	c.962G>A	c.(961-963)CGA>CAA	p.R321Q	GAB1_uc003ijd.2_Missense_Mutation_p.R321Q|GAB1_uc011chq.1_Missense_Mutation_p.R218Q	NM_002039	NP_002030	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1 isoform b	321					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)|skin(1)	4	all_hematologic(180;0.158)					CAGATTCCACGAACATTTCCA	0.453000												
LRBA	987	broad.mit.edu	37	4	151408925	151408925	+	Silent	SNP	A	A	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:151408925A>C	uc010ipj.2	-	43	7017	c.6543T>G	c.(6541-6543)CCT>CCG	p.P2181P	LRBA_uc003ils.3_Silent_p.P71P|LRBA_uc003ilt.3_Silent_p.P829P|LRBA_uc003ilu.3_Silent_p.P2170P	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2181						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CGCCAACACGAGGTAGATAGT	0.343000												
ETFDH	2110	broad.mit.edu	37	4	159624651	159624651	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:159624651A>G	uc003iqb.2	+	10	1525	c.1193A>G	c.(1192-1194)AAA>AGA	p.K398R	ETFDH_uc011cjg.1_Missense_Mutation_p.K351R|ETFDH_uc010iqr.2_5'UTR|ETFDH_uc011cjh.1_Missense_Mutation_p.K337R|ETFDH_uc010iqs.2_Missense_Mutation_p.K320R	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	398					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		CCCAAGATCAAAGGTACTCAC	0.343000												
NPY5R	4889	broad.mit.edu	37	4	164272323	164272323	+	Missense_Mutation	SNP	C	C	A	rs74555158		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:164272323C>A	uc003iqn.2	+	4	1080	c.898C>A	c.(898-900)CCA>ACA	p.P300T		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	300	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				GTTACCTGCTCCAGAAAGACC	0.428000												
NPY5R	4889	broad.mit.edu	37	4	164272327	164272327	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:164272327A>G	uc003iqn.2	+	4	1084	c.902A>G	c.(901-903)GAA>GGA	p.E301G		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	301	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				CCTGCTCCAGAAAGACCTTCT	0.433000												
SH3RF1	57630	broad.mit.edu	37	4	170057513	170057513	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:170057513G>A	uc003isa.1	-	5	1359	c.1024C>T	c.(1024-1026)CGG>TGG	p.R342W	SH3RF1_uc010irc.1_Missense_Mutation_p.T64M	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	342						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCGCTGATCCGTGCAGCAGCA	0.542000												
AHRR	57491	broad.mit.edu	37	5	433983	433983	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:433983G>A	uc003jav.2	+	12	1238	c.1194G>A	c.(1192-1194)GAG>GAA	p.E398E	AHRR_uc003jaw.2_Silent_p.E376E|AHRR_uc010isy.2_Silent_p.E226E|AHRR_uc010isz.2_Silent_p.E376E|AHRR_uc003jax.2_Silent_p.E139E|AHRR_uc003jay.2_Silent_p.E236E|AHRR_uc003jaz.2_5'UTR	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGGAGGAGGAGCAGCACAGGA	0.632000												
LPCAT1	79888	broad.mit.edu	37	5	1501615	1501615	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:1501615G>A	uc003jcm.2	-	2	356	c.239C>T	c.(238-240)GCG>GTG	p.A80V		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	80	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TTCCTTCTCCGCAGAGCCCAG	0.677000												
IRX1	79192	broad.mit.edu	37	5	3600194	3600194	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:3600194G>A	uc003jde.2	+	2	1184	c.1132G>A	c.(1132-1134)GCA>ACA	p.A378T		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	378						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GACCAACAGCGCATTCCTCGC	0.577000												
TRIO	7204	broad.mit.edu	37	5	14485239	14485239	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:14485239C>T	uc003jff.2	+	47	6725	c.6719C>T	c.(6718-6720)TCG>TTG	p.S2240L	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.S1889L	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2240	PH 2.				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)					GCTCTGACATCGAGGACGGGT	0.358000												
TRIO	7204	broad.mit.edu	37	5	14504593	14504593	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:14504593G>A	uc003jff.2	+	55	8509	c.8503G>A	c.(8503-8505)GAC>AAC	p.D2835N	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2835	Protein kinase.				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)					GATGAAGCGCGACCAGGTCAC	0.532000												
RXFP3	51289	broad.mit.edu	37	5	33937043	33937043	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:33937043G>A	uc003jic.1	+	1	555	c.198G>A	c.(196-198)CCG>CCA	p.P66P		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	66	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						GACATCCCCCGGGCAGCGGCG	0.706000												
FYB	2533	broad.mit.edu	37	5	39153610	39153610	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:39153610G>T	uc003jls.2	-	2	1299	c.1232C>A	c.(1231-1233)CCA>CAA	p.P411Q	FYB_uc003jlt.2_Missense_Mutation_p.P411Q|FYB_uc003jlu.2_Missense_Mutation_p.P411Q|FYB_uc011cpl.1_Missense_Mutation_p.P421Q	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	411	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGTTGTGATGGGTGAGATGC	0.493000												
DAB2	1601	broad.mit.edu	37	5	39377057	39377057	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:39377057A>G	uc003jlx.2	-	12	2363	c.1832T>C	c.(1831-1833)ATG>ACG	p.M611T	DAB2_uc003jlw.2_Missense_Mutation_p.M590T	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	611					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			AGAGGAGTGCATGGATGGGGG	0.557000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NNT	23530	broad.mit.edu	37	5	43659360	43659360	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:43659360G>A	uc003joe.2	+	17	2797	c.2542G>A	c.(2542-2544)GCA>ACA	p.A848T	NNT_uc003jof.2_Missense_Mutation_p.A848T	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	848	Helical; (Potential).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGCCCTGTGTGCAGAGGGCTT	0.517000												
HTR1A	3350	broad.mit.edu	37	5	63257457	63257457	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:63257457G>A	uc011cqt.1	-	1	90	c.90C>T	c.(88-90)GAC>GAT	p.D30D		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	30	Extracellular (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGACGGTCACGTCGGAGATAC	0.627000												
CCNB1	891	broad.mit.edu	37	5	68470196	68470196	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:68470196C>T	uc003jvm.2	+	5	842	c.665C>T	c.(664-666)ACC>ATC	p.T222I	CCNB1_uc011crd.1_Missense_Mutation_p.T222I|CCNB1_uc010ixb.2_Missense_Mutation_p.T222I	NM_031966	NP_114172	P14635	CCNB1_HUMAN	cyclin B1	222					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole					0		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTGCAGGAGACCATGTACATG	0.438000												
ANKRA2	57763	broad.mit.edu	37	5	72857049	72857049	+	Silent	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:72857049A>G	uc003kcu.1	-	3	1000	c.354T>C	c.(352-354)TCT>TCC	p.S118S	ANKRA2_uc003kcv.2_Silent_p.S118S	NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	118						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding				0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		GCTTTGTTGTAGAGGGGGTGT	0.388000												
DMGDH	29958	broad.mit.edu	37	5	78328527	78328527	+	Silent	SNP	G	G	A	rs112410293		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:78328527G>A	uc003kfs.2	-	9	1506	c.1500C>T	c.(1498-1500)GGC>GGT	p.G500G	DMGDH_uc011cte.1_Silent_p.G350G|DMGDH_uc011ctf.1_Silent_p.G299G|DMGDH_uc011ctg.1_Silent_p.G120G	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	500					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GAGTGTCCTGGCCTGGTTTGT	0.547000												
HOMER1	9456	broad.mit.edu	37	5	78693429	78693429	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:78693429G>T	uc003kfy.2	-	7	1819	c.716C>A	c.(715-717)GCA>GAA	p.A239E	HOMER1_uc010jab.2_Intron|HOMER1_uc010jac.2_Missense_Mutation_p.A109E|HOMER1_uc010jad.2_Missense_Mutation_p.A65E	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	homer 1	239	Potential.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane					0		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TACTGCATTTGCTTGGCTACT	0.328000												
VCAN	1462	broad.mit.edu	37	5	82835533	82835533	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:82835533G>A	uc003kii.3	+	8	7067	c.6711G>A	c.(6709-6711)CCG>CCA	p.P2237P	VCAN_uc003kij.3_Silent_p.P1250P|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.P901P	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2237	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACATTTTCCGAAAGGCATGA	0.383000												
CCNH	902	broad.mit.edu	37	5	86695286	86695286	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:86695286C>T	uc003kjb.2	-	7	1029	c.797G>A	c.(796-798)AGA>AAA	p.R266K	CCNH_uc003kiy.1_RNA|CCNH_uc003kiz.1_Missense_Mutation_p.R213K|CCNH_uc003kja.2_Missense_Mutation_p.R213K	NM_001239	NP_001230	P51946	CCNH_HUMAN	cyclin H	266					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			ovary(2)|kidney(1)	3		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		TTCTTCAGATCTGGGTGGTTC	0.383000								Direct_reversal_of_damage|NER				
CAMK4	814	broad.mit.edu	37	5	110809009	110809009	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:110809009C>T	uc011cvj.1	+	9	725	c.626C>T	c.(625-627)GCA>GTA	p.A209V	CAMK4_uc003kpf.2_Missense_Mutation_p.A209V|CAMK4_uc010jbv.2_Missense_Mutation_p.A12V	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	209	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTTTCTGCAGCACCTGAAATT	0.318000												
APC	324	broad.mit.edu	37	5	112162834	112162834	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:112162834C>T	uc010jby.2	+	12	1818	c.1438C>T	c.(1438-1440)CAA>TAA	p.Q480*	APC_uc011cvt.1_Nonsense_Mutation_p.Q462*|APC_uc003kpz.3_Nonsense_Mutation_p.Q480*|APC_uc003kpy.3_Nonsense_Mutation_p.Q480*|APC_uc010jbz.2_Nonsense_Mutation_p.Q197*|APC_uc010jca.2_Intron	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	480	Leu-rich.|ARM 1.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAATTATTGCAAGTGGACTG	0.378000		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
PGGT1B	5229	broad.mit.edu	37	5	114588851	114588851	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:114588851A>G	uc003kqw.3	-	2	263	c.242T>C	c.(241-243)GTC>GCC	p.V81A	PGGT1B_uc003kqx.3_5'UTR|PGGT1B_uc010jch.2_Missense_Mutation_p.V81A	NM_005023	NP_005014	P53609	PGTB1_HUMAN	geranylgeranyltransferase type 1 beta	81					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity				0		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	TGTGGGAAGGACCTGCAGGGA	0.294000												
ADAMTS19	171019	broad.mit.edu	37	5	128984551	128984551	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:128984551T>A	uc003kvb.1	+	13	2046	c.2046T>A	c.(2044-2046)AAT>AAA	p.N682K	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	682	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TATGTGAGAATCCACCTTGTC	0.393000												
CHSY3	337876	broad.mit.edu	37	5	129243994	129243994	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:129243994G>A	uc003kvd.2	+	2	1027	c.1027G>A	c.(1027-1029)GTG>ATG	p.V343M		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	343	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)		TCATGAGGATGTGGAAGTAGG	0.468000												
P4HA2	8974	broad.mit.edu	37	5	131539797	131539797	+	Missense_Mutation	SNP	C	C	T	rs147398523	by1000genomes	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:131539797C>T	uc003kwh.2	-	9	1693	c.1129G>A	c.(1129-1131)GCC>ACC	p.A377T	P4HA2_uc003kwg.2_Missense_Mutation_p.A377T|P4HA2_uc003kwi.2_Missense_Mutation_p.A377T|P4HA2_uc003kwk.2_Missense_Mutation_p.A377T|P4HA2_uc003kwl.2_Missense_Mutation_p.A377T|P4HA2_uc003kwj.2_Missense_Mutation_p.A377T	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	377						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding				0		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CGGTAGCTGGCGACAGTGAGG	0.527000												
TIFAB	497189	broad.mit.edu	37	5	134785283	134785283	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:134785283A>G	uc003law.3	-	2	548	c.347T>C	c.(346-348)GTA>GCA	p.V116A	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	116											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCTTCTTCTACGCGAACCAG	0.552000												
PCDHA10	56139	broad.mit.edu	37	5	140237829	140237829	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:140237829G>A	uc003lhx.2	+	1	2196	c.2196G>A	c.(2194-2196)CCG>CCA	p.P732P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.P732P	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	732	PXXP 1.|6 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGTGGGCCGGTGAAGCCCA	0.682000												
PCDHA11	56138	broad.mit.edu	37	5	140248933	140248933	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:140248933G>A	uc003lia.2	+	1	1103	c.245G>A	c.(244-246)GGC>GAC	p.G82D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.G82D	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	82	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGAATGGCATTTTGTTT	0.622000												
PCDHGB7	56099	broad.mit.edu	37	5	140799030	140799030	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:140799030G>A	uc003lkn.1	+	1	1749	c.1604G>A	c.(1603-1605)CGC>CAC	p.R535H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.R535H|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	535	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGGCCCGCGACCAGGGC	0.701000												
PCDH1	5097	broad.mit.edu	37	5	141243291	141243291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:141243291C>T	uc003llq.2	-	3	2722	c.2605G>A	c.(2605-2607)GCC>ACC	p.A869T	PCDH1_uc003llp.2_Missense_Mutation_p.A869T|PCDH1_uc011dbf.1_Missense_Mutation_p.A847T	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	869	Helical; (Potential).				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACCGCCAGGGCGATGAGCAAG	0.577000												
TCERG1	10915	broad.mit.edu	37	5	145878172	145878172	+	Silent	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:145878172C>A	uc003lob.2	+	16	2345	c.2305C>A	c.(2305-2307)CGA>AGA	p.R769R	TCERG1_uc003loc.2_Silent_p.R748R	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	769	FF 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGAAAGACCGAGAAGCCTT	0.393000												
GPR151	134391	broad.mit.edu	37	5	145895064	145895064	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:145895064G>A	uc003lod.1	-	1	613	c.613C>T	c.(613-615)CTC>TTC	p.L205F		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	205	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTGGGTAGAGCTTACCAAAC	0.433000												
PDE6A	5145	broad.mit.edu	37	5	149274815	149274815	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:149274815G>A	uc003lrg.3	-	13	1779	c.1659C>T	c.(1657-1659)TAC>TAT	p.Y553Y		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	553					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGATCTTGCGGTAGCCCTTAC	0.592000												
SLC6A7	6534	broad.mit.edu	37	5	149581986	149581986	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:149581986A>G	uc003lrr.2	+	7	1306	c.935A>G	c.(934-936)TAC>TGC	p.Y312C		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	312	Helical; Name=6; (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TTTGCCTCCTACAACACGTTT	0.587000												
FAT2	2196	broad.mit.edu	37	5	150892047	150892047	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:150892047C>T	uc003lue.3	-	20	11597	c.11584G>A	c.(11584-11586)GCT>ACT	p.A3862T	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3862	Extracellular (Potential).|Laminin G-like.				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)			CGAATGGAAGCGTCCATCTCC	0.582000												
FAT2	2196	broad.mit.edu	37	5	150948063	150948063	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:150948063G>T	uc003lue.3	-	1	443	c.430C>A	c.(430-432)CTG>ATG	p.L144M	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.L144M	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	144	Extracellular (Potential).|Cadherin 1.				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)			AGAGGCTTCAGGTCATTCTGG	0.547000												
MAT2B	27430	broad.mit.edu	37	5	162945228	162945228	+	Silent	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:162945228A>G	uc003lzk.2	+	7	972	c.864A>G	c.(862-864)CAA>CAG	p.Q288Q	MAT2B_uc003lzj.2_Silent_p.Q277Q|MAT2B_uc003lzl.1_3'UTR|MAT2B_uc003lzm.2_Silent_p.Q28Q	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta isoform	288					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			upper_aerodigestive_tract(1)	1	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TAGGAGCACAACGTCCGAGAA	0.423000												
ODZ2	57451	broad.mit.edu	37	5	167673928	167673928	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:167673928C>T	uc010jjd.2	+	27	5957	c.5957C>T	c.(5956-5958)TCG>TTG	p.S1986L	ODZ2_uc003lzr.3_Missense_Mutation_p.S1756L|ODZ2_uc003lzt.3_Missense_Mutation_p.S1359L|ODZ2_uc010jje.2_Missense_Mutation_p.S1250L	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGCAATGCTTCGGTCATCTTT	0.537000												
RARS	5917	broad.mit.edu	37	5	167937620	167937620	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:167937620C>T	uc003lzx.2	+	12	1422	c.1381C>T	c.(1381-1383)CGC>TGC	p.R461C	RARS_uc011deo.1_Missense_Mutation_p.R255C	NM_002887	NP_002878	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	461					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|skin(1)	3	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TGAAACAGTGCGCCTCATGGA	0.363000												
DOCK2	1794	broad.mit.edu	37	5	169267846	169267846	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:169267846A>G	uc003maf.2	+	27	2869	c.2789A>G	c.(2788-2790)CAC>CGC	p.H930R	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.H422R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	930					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCCGGGATCACATTCTGATT	0.463000												
GRK6	2870	broad.mit.edu	37	5	176861093	176861093	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:176861093G>A	uc011dfz.1	+	9	1077	c.917G>A	c.(916-918)CGC>CAC	p.R306H	GRK6_uc003mgp.2_Missense_Mutation_p.R306H|GRK6_uc003mgq.2_Missense_Mutation_p.R306H|GRK6_uc003mgs.1_Missense_Mutation_p.R276H	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	306	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CACCGGGAGCGCATCGTGTAC	0.687000												
FLT4	2324	broad.mit.edu	37	5	180048836	180048836	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:180048836G>T	uc003mma.3	-	13	1805	c.1726C>A	c.(1726-1728)CTG>ATG	p.L576M	FLT4_uc003mlz.3_Missense_Mutation_p.L576M|FLT4_uc003mmb.1_Missense_Mutation_p.L109M|FLT4_uc011dgy.1_Missense_Mutation_p.L576M	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	576	Ig-like C2-type 6.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCAGCTCAGGAGCACCGGC	0.627000									Congenital_Hereditary_Lymphedema			
FLT4	2324	broad.mit.edu	37	5	180056346	180056346	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:180056346C>T	uc003mma.3	-	7	977	c.898G>A	c.(898-900)GTC>ATC	p.V300I	FLT4_uc003mlz.3_Missense_Mutation_p.V300I|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.1_Missense_Mutation_p.V300I|FLT4_uc011dgz.1_Intron	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	300	Ig-like C2-type 3.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCTGGCTGACGTTGTGGATG	0.622000									Congenital_Hereditary_Lymphedema			
TRIM7	81786	broad.mit.edu	37	5	180630566	180630566	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:180630566C>A	uc003mmz.1	-	2	664	c.597G>T	c.(595-597)AAG>AAT	p.K199N	TRIM7_uc003mmv.1_5'Flank|TRIM7_uc003mmw.1_5'UTR|TRIM7_uc003mmx.1_5'UTR|TRIM7_uc003mmy.1_5'UTR|TRIM7_uc003mna.2_Missense_Mutation_p.K199N	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	199	Potential.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TGCTCTCCTTCTTTTCCGTGG	0.577000												
PRPF4B	8899	broad.mit.edu	37	6	4056600	4056600	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:4056600G>A	uc003mvv.2	+	12	2603	c.2512G>A	c.(2512-2514)GCT>ACT	p.A838T	PRPF4B_uc003mvw.2_RNA|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_RNA	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	838	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(5)	5	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TTTTGGGTCGGCTTCACATGT	0.343000												
FARS2	10667	broad.mit.edu	37	6	5369396	5369396	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:5369396G>A	uc010jnv.1	+	2	929	c.593G>A	c.(592-594)CGG>CAG	p.R198Q	FARS2_uc003mwr.2_Missense_Mutation_p.R198Q|FARS2_uc003mws.1_Missense_Mutation_p.R198Q	NM_006567	NP_006558	O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2 precursor	198					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	GAGGCCGTGCGGCTCTTCTCC	0.517000												
TBC1D7	51256	broad.mit.edu	37	6	13316875	13316875	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:13316875G>A	uc003naj.2	-	5	538	c.447C>T	c.(445-447)GTC>GTT	p.V149V	TBC1D7_uc011dis.1_RNA|TBC1D7_uc003nan.2_Silent_p.V149V|TBC1D7_uc003nal.2_Silent_p.V149V|TBC1D7_uc003nam.2_Silent_p.V149V|TBC1D7_uc003nao.2_Silent_p.V122V|TBC1D7_uc010jpd.2_Intron|TBC1D7_uc003nap.2_Silent_p.V122V	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7 isoform a	149	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			ovary(1)	1	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			AGTAACAGTCGACACTATCTT	0.423000												
MRS2	57380	broad.mit.edu	37	6	24418358	24418358	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:24418358C>T	uc003neb.2	+	8	1005	c.883C>T	c.(883-885)CTG>TTG	p.L295L	MRS2_uc003nea.2_Silent_p.L295L|MRS2_uc011djl.1_Silent_p.L298L|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Silent_p.L245L|MRS2_uc003nec.2_Silent_p.L172L	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	MRS2-like, magnesium homeostasis factor	295	Mitochondrial matrix (Potential).				ion transport	integral to membrane|mitochondrial inner membrane					0						GATGGAGTTGCTGTTGGAAAA	0.383000												
ZNF322A	79692	broad.mit.edu	37	6	26638628	26638628	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:26638628A>C	uc003nil.3	-	4	783	c.154T>G	c.(154-156)TTC>GTC	p.F52V	ZNF322A_uc003nij.2_5'Flank	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322A	52	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0						TTTTCACAGAAGTTTTGCTTG	0.363000												
OR2J2	26707	broad.mit.edu	37	6	29141713	29141713	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:29141713C>A	uc011dlm.1	+	1	403	c.301C>A	c.(301-303)CAA>AAA	p.Q101K		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	101	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTGCATGGTTCAACTTTACTT	0.478000												
KIAA1949	170954	broad.mit.edu	37	6	30647115	30647115	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:30647115A>G	uc003nra.2	-	3	1894	c.1663T>C	c.(1663-1665)TCC>CCC	p.S555P	KIAA1949_uc003nrb.3_Missense_Mutation_p.S555P	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	555						cytoplasm|cytoskeleton	actin binding				0						GAACTCTCGGAGGGGTATTGG	0.612000												
MDC1	9656	broad.mit.edu	37	6	30672422	30672422	+	Missense_Mutation	SNP	C	C	T	rs148973631		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:30672422C>T	uc003nrg.3	-	10	4978	c.4538G>A	c.(4537-4539)CGG>CAG	p.R1513Q	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.R1120Q	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1513	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						CCTAGTGGTCCGAGATGTGGG	0.577000								Other_conserved_DNA_damage_response_genes				
C6orf27	80737	broad.mit.edu	37	6	31734483	31734483	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:31734483C>T	uc011dog.1	-	14	2179	c.1941G>A	c.(1939-1941)GGG>GGA	p.G647G	C6orf27_uc003nxd.2_Silent_p.G322G	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	647						extracellular region				ovary(3)	3						GCTGAGGATCCCCAGGATTGG	0.622000												
EHMT2	10919	broad.mit.edu	37	6	31857080	31857080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:31857080G>A	uc003nxz.1	-	9	1049	c.1039C>T	c.(1039-1041)CGA>TGA	p.R347*	EHMT2_uc003nxy.1_Nonsense_Mutation_p.R138*|EHMT2_uc011don.1_Nonsense_Mutation_p.R404*|EHMT2_uc003nya.1_Nonsense_Mutation_p.R347*	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	347					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						CTGTCTTTTCGCCATTTCTTC	0.647000												
SKIV2L	6499	broad.mit.edu	37	6	31931727	31931727	+	Missense_Mutation	SNP	G	G	A	rs147878364	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:31931727G>A	uc003nyn.1	+	16	2074	c.1685G>A	c.(1684-1686)CGC>CAC	p.R562H	SKIV2L_uc011dou.1_Missense_Mutation_p.R404H|SKIV2L_uc011dov.1_Missense_Mutation_p.R369H	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	562						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						GCCTCCCTCCGCACACGTGCC	0.632000												
TNXB	7148	broad.mit.edu	37	6	31977539	31977539	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:31977539T>C	uc011dpc.1	-	12	2365	c.1456A>G	c.(1456-1458)AAC>GAC	p.N486D		NM_032470	NP_115859	P22105	TENX_HUMAN	tenascin XB isoform 2	4102	Fibrinogen C-terminal.			N -> I (in Ref. 5; AAI25115).	actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CAAAACACGTTCAGGGGCCGC	0.667000												
TNXB	7148	broad.mit.edu	37	6	32036744	32036744	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:32036744G>A	uc003nzl.2	-	16	5959	c.5757C>T	c.(5755-5757)GAC>GAT	p.D1919D		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2001	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GGAGTTGCCCGTCTCTATCTG	0.532000												
HLA-DMB	3109	broad.mit.edu	37	6	32903313	32903313	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:32903313T>C	uc003ocl.1	-	4	972	c.739A>G	c.(739-741)AGT>GGT	p.S247G	HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_RNA|HLA-DMB_uc010jud.1_Missense_Mutation_p.R116G|HLA-DMB_uc010jue.1_Intron|HLA-DMB_uc010juf.1_Intron	NM_002118	NP_002109	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM	247	Cytoplasmic (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0						AGTCACTCACTAGAGTGGCCA	0.517000												
TAPBP	6892	broad.mit.edu	37	6	33281220	33281220	+	Silent	SNP	C	C	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:33281220C>G	uc003odx.1	-	3	414	c.243G>C	c.(241-243)CGG>CGC	p.R81R	TAPBP_uc010jus.1_Silent_p.R81R|TAPBP_uc003ody.2_Silent_p.R81R|TAPBP_uc003odz.2_Silent_p.R81R|TAPBP_uc010jut.1_Intron|TAPBP_uc011drc.1_Silent_p.R81R	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	81	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1						CCCGGGGATACCGCCTGAAGG	0.687000												
GRM4	2914	broad.mit.edu	37	6	34101144	34101144	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:34101144G>A	uc003oir.3	-	1	300	c.130C>T	c.(130-132)CGC>TGC	p.R44C	GRM4_uc011dsn.1_Missense_Mutation_p.R44C|GRM4_uc010jvh.2_Missense_Mutation_p.R44C|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_Intron	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	44	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R44C(2)		lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	CCATCTATGCGGATGGAATTC	0.612000												
MTCH1	23787	broad.mit.edu	37	6	36946316	36946316	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:36946316C>T	uc003ond.1	-	3	478	c.478G>A	c.(478-480)GCC>ACC	p.A160T	MTCH1_uc003onc.1_Missense_Mutation_p.A160T|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Missense_Mutation_p.A160T|MTCH1_uc011dtt.1_5'UTR	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier homolog 1	160	Solcar 1.				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding				0						GTAGAGAGGGCGTTGGACATC	0.567000												
MOCS1	4337	broad.mit.edu	37	6	39881119	39881119	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:39881119C>T	uc003opb.2	-	5	837	c.699G>A	c.(697-699)GCG>GCA	p.A233A	MOCS1_uc003opa.2_Silent_p.A233A|MOCS1_uc003opc.2_Silent_p.A233A|MOCS1_uc003opd.2_Silent_p.A233A|MOCS1_uc003ope.2_Silent_p.A146A	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	233	Molybdenum cofactor biosynthesis protein A.			A -> V (in Ref. 3; BAG51799/BAG62053).	Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGTCAAGGCCGCAAAGTCCA	0.577000												
TREM1	54210	broad.mit.edu	37	6	41243898	41243898	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:41243898G>T	uc003oqf.1	-	4	734	c.670C>A	c.(670-672)CTG>ATG	p.L224M	TREM1_uc003oqg.1_3'UTR	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	224	Helical; (Potential).				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	ACAGCAAACAGGACAGAGAAG	0.547000												
NCR2	9436	broad.mit.edu	37	6	41309825	41309825	+	Silent	SNP	G	G	A	rs138366454	by1000genomes	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:41309825G>A	uc003oqh.2	+	4	669	c.582G>A	c.(580-582)GTG>GTA	p.V194V	NCR2_uc003oqi.2_Silent_p.V206V|NCR2_uc003oqj.2_Silent_p.V194V	NM_004828	NP_004819	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	194	Helical; (Potential).				cellular defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					TTGCCCTGGTGCCTGTGTTCT	0.637000												
GUCA1A	2978	broad.mit.edu	37	6	42146094	42146094	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:42146094G>A	uc003orx.2	+	4	923	c.278G>A	c.(277-279)CGC>CAC	p.R93H	GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Missense_Mutation_p.R93H	NM_000409	NP_000400	P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	93	EF-hand 3.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity				0	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGAAGCTCCGCTGGTACTTC	0.617000												
PPP2R5D	5528	broad.mit.edu	37	6	42974953	42974953	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:42974953G>A	uc003oth.2	+	5	628	c.542G>A	c.(541-543)CGG>CAG	p.R181Q	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Missense_Mutation_p.R149Q|PPP2R5D_uc010jyd.2_Missense_Mutation_p.R75Q|PPP2R5D_uc011dva.1_Missense_Mutation_p.R30Q|PPP2R5D_uc003oti.2_Missense_Mutation_p.R30Q|PPP2R5D_uc003otj.2_Missense_Mutation_p.R30Q	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	181					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AACCTCTTCCGGACGCTGCCA	0.602000												
CYP39A1	51302	broad.mit.edu	37	6	46607365	46607365	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:46607365T>A	uc003oyf.1	-	3	558	c.354A>T	c.(352-354)AAA>AAT	p.K118N	CYP39A1_uc011dwa.1_Intron|CYP39A1_uc010jzd.1_Intron	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A,	118					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(1)	1						TAATATAGAGTTTTTCATGCA	0.348000												
FILIP1	27145	broad.mit.edu	37	6	76024734	76024734	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:76024734T>C	uc003pia.2	-	5	1187	c.814A>G	c.(814-816)ACT>GCT	p.T272A	FILIP1_uc003phy.1_Missense_Mutation_p.T272A|FILIP1_uc003phz.2_Missense_Mutation_p.T173A|FILIP1_uc010kbe.2_Missense_Mutation_p.T275A|FILIP1_uc003pib.1_Missense_Mutation_p.T24A	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	272	Potential.									skin(3)|ovary(1)	4						AGCTTCTGAGTAAGATCCTGT	0.413000												
LCA5	167691	broad.mit.edu	37	6	80223368	80223368	+	Missense_Mutation	SNP	C	C	T	rs34531407	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:80223368C>T	uc003pix.2	-	3	716	c.281G>A	c.(280-282)CGG>CAG	p.R94Q	LCA5_uc003piy.2_Missense_Mutation_p.R94Q|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.R94Q	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	94					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AGTATCTTTCCGAAGTGGCTC	0.453000												
BCKDHB	594	broad.mit.edu	37	6	80881109	80881109	+	Splice_Site	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:80881109T>C	uc003pjd.2	+	6	809	c.742_splice	c.e6+2	p.A248_splice	BCKDHB_uc003pje.2_Splice_Site_p.A248_splice	NM_000056	NP_000047	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1 beta						branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding				0		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GGGCAGCAGGTAAAGATTTTC	0.279000												
SNX14	57231	broad.mit.edu	37	6	86256893	86256893	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:86256893G>A	uc003pkr.2	-	12	1238	c.1045C>T	c.(1045-1047)CGT>TGT	p.R349C	SNX14_uc003pkp.2_Missense_Mutation_p.R212C|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Missense_Mutation_p.R297C|SNX14_uc003pks.2_Missense_Mutation_p.R305C|SNX14_uc003pkt.2_Missense_Mutation_p.R349C	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	349	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTCATAAAACGAAATAAAAGA	0.338000												
SNX14	57231	broad.mit.edu	37	6	86283982	86283982	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:86283982T>C	uc003pkr.2	-	2	448	c.255A>G	c.(253-255)AAA>AAG	p.K85K	SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Silent_p.K33K|SNX14_uc003pks.2_Silent_p.K85K|SNX14_uc003pkt.2_Silent_p.K85K	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	85					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTACCTTGGGTTTGTATTTTA	0.313000												
EPHA7	2045	broad.mit.edu	37	6	93982022	93982022	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:93982022G>A	uc003poe.2	-	6	1684	c.1443C>T	c.(1441-1443)TAC>TAT	p.Y481Y	EPHA7_uc003pof.2_Silent_p.Y481Y|EPHA7_uc011eac.1_Silent_p.Y481Y	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	481	Extracellular (Potential).|Fibronectin type-III 2.					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)		TTACTTTCTCGTAATACTTGA	0.423000												
HDDC2	51020	broad.mit.edu	37	6	125619888	125619888	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:125619888G>T	uc003qaa.1	-	3	485	c.281C>A	c.(280-282)CCC>CAC	p.P94H	HDDC2_uc003qab.1_Intron	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	94	HD.						metal ion binding|phosphoric diester hydrolase activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		TTCTTCTTTGGGGATGTTATC	0.308000												
TMEM200A	114801	broad.mit.edu	37	6	130762378	130762378	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:130762378G>A	uc003qca.2	+	3	1682	c.811G>A	c.(811-813)GGC>AGC	p.G271S	TMEM200A_uc010kfh.2_Missense_Mutation_p.G271S|TMEM200A_uc010kfi.2_Missense_Mutation_p.G271S|TMEM200A_uc003qcb.2_Missense_Mutation_p.G271S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	271	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TAAGACCAGCGGCTCTAAGAA	0.453000												
MOXD1	26002	broad.mit.edu	37	6	132643931	132643931	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:132643931T>C	uc003qdf.2	-	8	1291	c.1192A>G	c.(1192-1194)AGG>GGG	p.R398G	MOXD1_uc003qde.2_Missense_Mutation_p.R330G	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	398	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TGACGCAGCCTGATGCCTCTG	0.448000												
HIVEP2	3097	broad.mit.edu	37	6	143093193	143093193	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:143093193C>T	uc003qjd.2	-	5	3426	c.2683G>A	c.(2683-2685)GAG>AAG	p.E895K		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	895					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCAGGCTCCTCGGTCACTCGA	0.537000												
UTRN	7402	broad.mit.edu	37	6	144780470	144780470	+	Missense_Mutation	SNP	G	G	A	rs115273171	by1000genomes	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:144780470G>A	uc003qkt.2	+	20	2779	c.2687G>A	c.(2686-2688)CGT>CAT	p.R896H	UTRN_uc010khq.1_Missense_Mutation_p.R896H	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	896	Interaction with SYNM.|Spectrin 6.				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)		GTAGAGGATCGTCAACAACAT	0.463000												
SYNE1	23345	broad.mit.edu	37	6	152476161	152476161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:152476161G>A	uc010kiw.2	-	133	24597	c.23995C>T	c.(23995-23997)CGA>TGA	p.R7999*	SYNE1_uc010kiv.2_Nonsense_Mutation_p.R2523*|SYNE1_uc003qos.3_Nonsense_Mutation_p.R2523*|SYNE1_uc003qot.3_Nonsense_Mutation_p.R7928*|SYNE1_uc003qou.3_Nonsense_Mutation_p.R7999*|SYNE1_uc003qop.3_Nonsense_Mutation_p.R161*|SYNE1_uc011eez.1_Nonsense_Mutation_p.R201*|SYNE1_uc003qoq.3_Nonsense_Mutation_p.R201*|SYNE1_uc003qor.3_Nonsense_Mutation_p.R899*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7999	Spectrin 29.|Cytoplasmic (Potential).|HAT 12.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCCACAATCGCCACGTCTCT	0.473000										HNSCC(10;0.0054)		
FRMD1	79981	broad.mit.edu	37	6	168461723	168461723	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:168461723G>A	uc003qwo.3	-	9	1125	c.1060C>T	c.(1060-1062)CGG>TGG	p.R354W	FRMD1_uc003qwm.3_Missense_Mutation_p.R148W|FRMD1_uc011egs.1_Missense_Mutation_p.R125W|FRMD1_uc011egt.1_Missense_Mutation_p.R289W|FRMD1_uc003qwn.3_Missense_Mutation_p.R286W	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	FERM domain containing 1 isoform 1	354	FERM.					cytoskeleton	binding			ovary(1)	1		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TAGGACTCCCGGTAGTGCTGC	0.642000												
INTS1	26173	broad.mit.edu	37	7	1514368	1514368	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:1514368G>A	uc003skn.2	-	40	5710	c.5609C>T	c.(5608-5610)GCG>GTG	p.A1870V	INTS1_uc003skm.1_Missense_Mutation_p.A7V	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1870					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTGCGCCACCGCCAGCTTCCG	0.682000												
SDK1	221935	broad.mit.edu	37	7	4188998	4188998	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:4188998C>T	uc003smx.2	+	30	4667	c.4528C>T	c.(4528-4530)CGG>TGG	p.R1510W	SDK1_uc010kso.2_Missense_Mutation_p.R786W|SDK1_uc003smy.2_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1510	Fibronectin type-III 9.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCCCCCATCCGGTACTTCAC	0.677000												
THSD7A	221981	broad.mit.edu	37	7	11675852	11675852	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:11675852C>A	uc003ssf.3	-	2	1179	c.927G>T	c.(925-927)CAG>CAT	p.Q309H		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	309	Extracellular (Potential).|Potential.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTTGTCTGTTCTGCCTGTTTC	0.443000										HNSCC(18;0.044)		
DFNA5	1687	broad.mit.edu	37	7	24784260	24784260	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:24784260C>T	uc010kus.1	-	3	413	c.325G>A	c.(325-327)GTA>ATA	p.V109I	DFNA5_uc003swz.2_5'UTR|DFNA5_uc003sxa.1_Missense_Mutation_p.V109I|DFNA5_uc010kut.1_5'UTR|DFNA5_uc003sxb.2_Missense_Mutation_p.V109I|DFNA5_uc003sxc.2_Missense_Mutation_p.V109I	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5 protein isoform	109					sensory perception of sound					ovary(1)	1						TGGCTCTCTACGCGGCTGCTG	0.547000												
WIPF3	644150	broad.mit.edu	37	7	29915533	29915533	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:29915533C>T	uc003taj.1	+	2	178	c.178C>T	c.(178-180)CGC>TGC	p.R60C		NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	60										ovary(1)	1						AACTCGCCTGCGCAAAGTCAC	0.592000												
C7orf41	222166	broad.mit.edu	37	7	30197086	30197086	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:30197086G>A	uc011kab.1	+	3	519	c.318G>A	c.(316-318)GCG>GCA	p.A106A	C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Silent_p.A106A	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN	hypothetical protein LOC222166	106											0						ATGACGATGCGTTTGAAGAGT	0.567000												
KIAA0895	23366	broad.mit.edu	37	7	36396613	36396613	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:36396613G>C	uc003tfd.2	-	3	816	c.765C>G	c.(763-765)TTC>TTG	p.F255L	KIAA0895_uc003tfc.2_Missense_Mutation_p.F242L|KIAA0895_uc011kaw.1_Missense_Mutation_p.F104L|KIAA0895_uc003tfb.2_Missense_Mutation_p.F204L|KIAA0895_uc011kax.1_Missense_Mutation_p.F204L|KIAA0895_uc003tfe.2_Missense_Mutation_p.F242L|KIAA0895_uc011kay.1_Missense_Mutation_p.F204L	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	hypothetical protein LOC23366 isoform 1	255											0						AGTCAGATTTGAAGAATCTCA	0.393000												
KIAA0895	23366	broad.mit.edu	37	7	36397160	36397160	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:36397160G>C	uc003tfd.2	-	3	269	c.218C>G	c.(217-219)TCT>TGT	p.S73C	KIAA0895_uc003tfc.2_Missense_Mutation_p.S60C|KIAA0895_uc011kaw.1_5'UTR|KIAA0895_uc003tfb.2_Missense_Mutation_p.S22C|KIAA0895_uc011kax.1_Missense_Mutation_p.S22C|KIAA0895_uc003tfe.2_Missense_Mutation_p.S60C|KIAA0895_uc011kay.1_Missense_Mutation_p.S22C	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	hypothetical protein LOC23366 isoform 1	73											0						ATTTAGAATAGACTTCTTAGC	0.353000												
TXNDC3	51314	broad.mit.edu	37	7	37901736	37901736	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:37901736C>T	uc003tfn.2	+	7	749	c.377C>T	c.(376-378)GCT>GTT	p.A126V		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	126					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						GGTGAAATGGCTCGACCTCAG	0.358000									Kartagener_syndrome			
CCM2	83605	broad.mit.edu	37	7	45115406	45115406	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:45115406G>A	uc003tmo.2	+	10	1231	c.1085G>A	c.(1084-1086)AGC>AAC	p.S362N	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.S304N|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.S271N|CCM2_uc003tms.2_Missense_Mutation_p.S383N	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	362					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						GAGAAGGACAGCCAGCACTTC	0.607000									Familial_Cerebral_Cavernous_Angioma			
C7orf42	55069	broad.mit.edu	37	7	66413644	66413644	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:66413644A>G	uc003tvk.2	+	4	823	c.559A>G	c.(559-561)ACC>GCC	p.T187A	C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Missense_Mutation_p.T187A	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	hypothetical protein LOC55069	187	Helical; (Potential).					integral to membrane				ovary(1)	1						AGCCTGCATGACCCTCACGGC	0.592000												
LAT2	7462	broad.mit.edu	37	7	73638506	73638506	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:73638506C>T	uc003uag.2	+	12	1157	c.607C>T	c.(607-609)CGC>TGC	p.R203C	RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.R203C|LAT2_uc003uai.2_Missense_Mutation_p.R203C|LAT2_uc010lbo.2_RNA	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family member	203	Cytoplasmic (Potential).				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding				0						CCATCAGTGGCGCGAGTCCAG	0.587000												
HIP1	3092	broad.mit.edu	37	7	75168711	75168711	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:75168711C>T	uc003uds.1	-	30	3034	c.2993G>A	c.(2992-2994)CGT>CAT	p.R998H	HIP1_uc011kfz.1_Missense_Mutation_p.R824H	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	998	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						CAGTTTTTGACGCTCCTTCTG	0.453000			T	PDGFRB	CMML							
MAGI2	9863	broad.mit.edu	37	7	77814969	77814969	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:77814969G>T	uc003ugx.2	-	13	2542	c.2288C>A	c.(2287-2289)ACC>AAC	p.T763N	MAGI2_uc003ugy.2_Intron|MAGI2_uc010ldx.1_Intron|MAGI2_uc010ldy.1_Missense_Mutation_p.T372N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	763						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCGAAAACTGGTCCTGGGTGG	0.358000												
GRM3	2913	broad.mit.edu	37	7	86468840	86468840	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:86468840C>T	uc003uid.2	+	4	3109	c.2010C>T	c.(2008-2010)TTC>TTT	p.F670F	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.F542F|GRM3_uc010leh.2_Silent_p.F262F	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	670	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCCGCATCTTCGATGGGGTCA	0.537000												
ABCB4	5244	broad.mit.edu	37	7	87076415	87076415	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:87076415G>T	uc003uiv.1	-	9	1016	c.940C>A	c.(940-942)CTG>ATG	p.L314M	ABCB4_uc003uiw.1_Missense_Mutation_p.L314M|ABCB4_uc003uix.1_Missense_Mutation_p.L314M	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	314	Helical; (By similarity).|ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CAGAAGGCCAGTGCATATGAT	0.333000												
SLC25A13	10165	broad.mit.edu	37	7	95906629	95906629	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:95906629C>T	uc003uof.3	-	3	282	c.91G>A	c.(91-93)GGT>AGT	p.G31S	SLC25A13_uc003uog.3_Missense_Mutation_p.G31S|SLC25A13_uc011kik.1_5'UTR	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	31					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AAAAATTCACCGTTTTTCTCA	0.318000												
C7orf59	389541	broad.mit.edu	37	7	99751060	99751060	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:99751060G>T	uc003utq.2	+	3	188	c.122G>T	c.(121-123)AGT>ATT	p.S41I		NM_001008395	NP_001008396	Q0VGL1	CG059_HUMAN	hypothetical protein LOC389541	41											0						CAGGCAGCCAGTGCCATCTCT	0.557000												
TSC22D4	81628	broad.mit.edu	37	7	100064674	100064674	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:100064674G>A	uc003uva.2	-	5	1851	c.1096C>T	c.(1096-1098)CGC>TGC	p.R366C	C7orf61_uc003uuz.1_5'Flank|TSC22D4_uc003uvb.2_Missense_Mutation_p.R127C|TSC22D4_uc011kjv.1_Missense_Mutation_p.R127C|TSC22D4_uc010lgx.2_Missense_Mutation_p.R366C	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	366					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCAGGGCGCGCAGCAGCCCA	0.701000												
CUX1	1523	broad.mit.edu	37	7	101870917	101870917	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:101870917G>A	uc003uyx.3	+	21	3439	c.3401G>A	c.(3400-3402)CGG>CAG	p.R1134Q	CUX1_uc003uys.3_Missense_Mutation_p.R1145Q|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	1134	CUT 3.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						ATAACCAAGCGGGTGAAGGAG	0.612000												
ORAI2	80228	broad.mit.edu	37	7	102087196	102087196	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:102087196C>T	uc010lhz.1	+	4	697	c.462C>T	c.(460-462)ACC>ACT	p.T154T	ORAI2_uc003uzj.2_Silent_p.T154T|ORAI2_uc003uzk.2_Silent_p.T154T|ORAI2_uc011kks.1_Silent_p.T77T	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	154	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|kidney(1)	2						GCTTCTCCACCGTGCTTGGCA	0.647000												
PMPCB	9512	broad.mit.edu	37	7	102948086	102948086	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:102948086C>T	uc003vbl.2	+	7	814	c.780C>T	c.(778-780)TTC>TTT	p.F260F	PMPCB_uc010liu.1_Silent_p.F260F|PMPCB_uc003vbk.1_Silent_p.F260F|PMPCB_uc003vbm.2_Silent_p.F169F|PMPCB_uc010liv.2_Silent_p.F166F|PMPCB_uc010liw.2_Silent_p.F169F|PMPCB_uc011kll.1_Silent_p.F155F|PMPCB_uc011klm.1_Silent_p.F135F	NM_004279	NP_004270	O75439	MPPB_HUMAN	mitochondrial processing peptidase beta subunit	260					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)	4						AGTTTCATTTCGGTGACTCTT	0.388000												
RELN	5649	broad.mit.edu	37	7	103113285	103113285	+	Nonsense_Mutation	SNP	G	G	A	rs139326865		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:103113285G>A	uc003vca.2	-	66	10517	c.10357C>T	c.(10357-10359)CGA>TGA	p.R3453*	RELN_uc010liz.2_Nonsense_Mutation_p.R3451*	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3453	Arg-rich (basic).				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTGACCTTCGTCTTCTGTTG	0.378000												
RELN	5649	broad.mit.edu	37	7	103124242	103124242	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:103124242T>C	uc003vca.2	-	62	10199	c.10039A>G	c.(10039-10041)AGT>GGT	p.S3347G	RELN_uc010liz.2_Missense_Mutation_p.S3347G	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3347					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCAGGTCACTGTTGCAGCTG	0.468000												
ATXN7L1	222255	broad.mit.edu	37	7	105429099	105429099	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:105429099G>A	uc003vde.2	-	3	333	c.306C>T	c.(304-306)TGC>TGT	p.C102C	ATXN7L1_uc003vdi.2_Silent_p.C102C	NM_020725	NP_065776	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1 isoform 1	102											0						TACAGGCACTGCACACTACGA	0.517000												
LRRN3	54674	broad.mit.edu	37	7	110764026	110764026	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:110764026C>T	uc003vft.3	+	4	2244	c.1198C>T	c.(1198-1200)CCT>TCT	p.P400S	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.P400S|LRRN3_uc003vfs.3_Missense_Mutation_p.P400S	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	400	Extracellular (Potential).|LRRCT.					integral to membrane		p.P399fs*16(1)		skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CGTGGACCCACCTGAATTCCA	0.448000												
GRM8	2918	broad.mit.edu	37	7	126173502	126173502	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:126173502G>T	uc003vlr.2	-	8	2245	c.1934C>A	c.(1933-1935)ACA>AAA	p.T645K	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.T645K|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	645	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCATATGATTGTATCTGGTGC	0.458000										HNSCC(24;0.065)		
FSCN3	29999	broad.mit.edu	37	7	127235874	127235874	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:127235874C>T	uc003vmd.1	+	2	877	c.658C>T	c.(658-660)CGG>TGG	p.R220W	FSCN3_uc003vmc.1_Missense_Mutation_p.R175W|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.R86W|FSCN3_uc010llc.1_Missense_Mutation_p.R220W	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	220						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						CATGCAAGTGCGGCCTGGAGG	0.562000												
DGKI	9162	broad.mit.edu	37	7	137304599	137304599	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:137304599T>A	uc003vtt.2	-	8	965	c.964A>T	c.(964-966)ACT>TCT	p.T322S	DGKI_uc003vtu.2_Missense_Mutation_p.T22S	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	322					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						ATGATCCAAGTGGGCGGGACA	0.498000												
HIPK2	28996	broad.mit.edu	37	7	139281492	139281492	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:139281492C>G	uc003vvf.3	-	12	2862	c.2688G>C	c.(2686-2688)GAG>GAC	p.E896D	HIPK2_uc003vvd.3_Missense_Mutation_p.E869D	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	896	Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).|Interaction with UBE2I (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).			DTDEEEE->NFNQQQQ: Loss of SUMO and CBX4 interaction, and impaired nuclear and PML-nuclear bodies localization.	apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					GTTCCTCCTCCTCGTCCGTGT	0.612000												
CNTNAP2	26047	broad.mit.edu	37	7	146741062	146741062	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:146741062G>A	uc003weu.1	+	4	982	c.466G>A	c.(466-468)GCC>ACC	p.A156T		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	156	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCGATTATTGCCCGCTATGT	0.428000										HNSCC(39;0.1)		
CNTNAP2	26047	broad.mit.edu	37	7	147844772	147844772	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:147844772G>A	uc003weu.1	+	17	3260	c.2744G>A	c.(2743-2745)CGC>CAC	p.R915H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	915	Laminin G-like 3.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCCACACCCGCCTGGAGCTC	0.522000										HNSCC(39;0.1)		
SSPO	23145	broad.mit.edu	37	7	149500830	149500830	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:149500830C>T	uc010lpk.2	+	56	8148	c.8148C>T	c.(8146-8148)TGC>TGT	p.C2716C		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2716	TSP type-1 6.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGCCCTGCGGCTGGTCAG	0.687000												
GIMAP7	168537	broad.mit.edu	37	7	150217082	150217082	+	Missense_Mutation	SNP	G	G	A	rs145339506		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:150217082G>A	uc003whk.2	+	2	150	c.20G>A	c.(19-21)CGC>CAC	p.R7H		NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	7							GTP binding			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGAGGACCGCTCCCTGAGG	0.493000												
ASB10	136371	broad.mit.edu	37	7	150883931	150883931	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:150883931C>G	uc003wjm.1	-	1	548	c.422G>C	c.(421-423)AGG>ACG	p.R141T	ASB10_uc003wjl.1_Missense_Mutation_p.R141T|ASB10_uc003wjn.1_Intron	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	96					intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGGAAATCCCTCCATCGCTC	0.642000												
NUB1	51667	broad.mit.edu	37	7	151065014	151065014	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:151065014A>G	uc003wjx.2	+	10	1132	c.1127A>G	c.(1126-1128)CAC>CGC	p.H376R	NUB1_uc003wjw.2_Missense_Mutation_p.H352R|NUB1_uc010lqc.2_RNA|uc003wjz.1_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	352					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CGAAACTATCACAGTGGAAAT	0.328000											OREG0018452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PRKAG2	51422	broad.mit.edu	37	7	151329217	151329217	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:151329217A>C	uc003wkk.2	-	5	1303	c.692T>G	c.(691-693)CTG>CGG	p.L231R	PRKAG2_uc003wki.2_5'UTR|PRKAG2_uc011kvl.1_Missense_Mutation_p.L107R|PRKAG2_uc003wkj.2_Missense_Mutation_p.L187R|PRKAG2_uc010lqe.1_Intron	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	231					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(1)|kidney(1)	2	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GGCCGCCGCCAGCGCCGCCTG	0.423000												
CTSB	1508	broad.mit.edu	37	8	11703216	11703216	+	Silent	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:11703216G>T	uc003wum.2	-	11	1200	c.876C>A	c.(874-876)CCC>CCA	p.P292P	CTSB_uc003wul.2_Silent_p.P229P|CTSB_uc011kxl.1_Silent_p.P213P|CTSB_uc003wun.2_Silent_p.P292P|CTSB_uc003wuo.2_Silent_p.P292P|CTSB_uc003wup.2_Silent_p.P292P|CTSB_uc003wuq.2_Silent_p.P292P|CTSB_uc010lsc.2_Silent_p.P168P|CTSB_uc003wur.2_Silent_p.P292P|CTSB_uc003wus.1_Silent_p.P292P|CTSB_uc003wut.1_Silent_p.P292P|CTSB_uc003wuu.2_3'UTR	NM_147780	NP_680090	P07858	CATB_HUMAN	cathepsin B preproprotein	292					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity				0	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCAGCCAGTAGGGTGTGCCAT	0.577000												
TUSC3	7991	broad.mit.edu	37	8	15601103	15601103	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:15601103G>A	uc003wwt.2	+	8	1129	c.919G>A	c.(919-921)GAT>AAT	p.D307N	TUSC3_uc003wwu.2_Missense_Mutation_p.D307N|TUSC3_uc003wwv.2_Missense_Mutation_p.D307N|TUSC3_uc003www.2_Missense_Mutation_p.D307N|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_3'UTR	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	307					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		TTCGAAAGGCGATGTTGGAAA	0.393000												
NAT2	10	broad.mit.edu	37	8	18258064	18258064	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:18258064A>C	uc003wyw.1	+	2	658	c.551A>C	c.(550-552)AAG>ACG	p.K184T		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	184					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		CTGCCAAAGAAGAAACACCAA	0.368000									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			
ATP6V1B2	526	broad.mit.edu	37	8	20072357	20072357	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:20072357G>C	uc003wzp.2	+	10	1170	c.956G>C	c.(955-957)GGT>GCT	p.G319A		NM_001693	NP_001684	P21281	VATB2_HUMAN	vacuolar H+ATPase B2	319					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		GAGGTACCTGGTCGACGAGGT	0.468000												
NEFM	4741	broad.mit.edu	37	8	24771944	24771944	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:24771944C>T	uc003xed.3	+	1	671	c.638C>T	c.(637-639)GCG>GTG	p.A213V	NEFM_uc011lac.1_Missense_Mutation_p.A213V|NEFM_uc010lue.2_5'Flank|uc010luc.1_Missense_Mutation_p.A42T	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	213	Rod.|Coil 1B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCGAGGAGGCGTCGCTGGTC	0.647000												
SCARA5	286133	broad.mit.edu	37	8	27779236	27779236	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:27779236G>A	uc003xgj.2	-	4	1208	c.768C>T	c.(766-768)AGC>AGT	p.S256S	SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Silent_p.S213S|SCARA5_uc003xgl.2_Silent_p.S256S	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	256	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCGTGTCCTCGCTGGCGTTGC	0.706000												
KIF13B	23303	broad.mit.edu	37	8	28976394	28976394	+	Silent	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:28976394A>G	uc003xhh.3	-	30	3710	c.3651T>C	c.(3649-3651)CAT>CAC	p.H1217H	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1217					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCTCCCCATCATGCTGCTTCA	0.463000												
MYST3	7994	broad.mit.edu	37	8	41836217	41836217	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:41836217C>T	uc010lxb.2	-	7	1530	c.986G>A	c.(985-987)CGG>CAG	p.R329Q	MYST3_uc010lxc.2_Missense_Mutation_p.R329Q|MYST3_uc003xon.3_Missense_Mutation_p.R329Q|MYST3_uc010lxd.2_Missense_Mutation_p.R329Q	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	329	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			AGTATAGCGCCGTTTTATCTG	0.388000												
MYST3	7994	broad.mit.edu	37	8	41839431	41839431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:41839431G>A	uc010lxb.2	-	5	1295	c.751C>T	c.(751-753)CGA>TGA	p.R251*	MYST3_uc010lxc.2_Nonsense_Mutation_p.R251*|MYST3_uc003xon.3_Nonsense_Mutation_p.R251*|MYST3_uc010lxd.2_Nonsense_Mutation_p.R251*	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	251	PHD-type 1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			GCCTTCACTCGAACCGTTAGT	0.428000												
PLAG1	5324	broad.mit.edu	37	8	57080658	57080658	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:57080658T>C	uc003xsq.3	-	2	622	c.171A>G	c.(169-171)ACA>ACG	p.T57T	PLAG1_uc003xsr.3_Silent_p.T57T|PLAG1_uc010lyi.2_Silent_p.T57T|PLAG1_uc010lyj.2_Intron	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	57	Interacts with KPNA2.|Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GCCTCTCTCCTGTGTGAGAGT	0.398000			T	TCEA1|LIFR|CTNNB1|CHCHD7	salivary adenoma							
CYP7B1	9420	broad.mit.edu	37	8	65527633	65527633	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:65527633C>A	uc003xvj.2	-	4	1211	c.1007G>T	c.(1006-1008)GGA>GTA	p.G336V		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	336					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GATGGGAAATCCAGACCCTTT	0.448000												
PREX2	80243	broad.mit.edu	37	8	69030870	69030870	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:69030870A>T	uc003xxv.1	+	27	3439	c.3412A>T	c.(3412-3414)ATG>TTG	p.M1138L		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1138					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CAGTGATGAAATGGACTCAGG	0.433000												
SULF1	23213	broad.mit.edu	37	8	70476305	70476305	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:70476305G>A	uc010lza.1	+	5	812	c.95G>A	c.(94-96)GGA>GAA	p.G32E	SULF1_uc003xyd.2_Missense_Mutation_p.G32E|SULF1_uc003xye.2_Missense_Mutation_p.G32E|SULF1_uc003xyf.2_Missense_Mutation_p.G32E|SULF1_uc003xyg.2_Missense_Mutation_p.G32E	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	32					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGGTTCAGAGGACGGATACAG	0.483000												
STAU2	27067	broad.mit.edu	37	8	74515987	74515987	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:74515987G>A	uc003xzm.2	-	10	1239	c.1003C>T	c.(1003-1005)CCT>TCT	p.P335S	STAU2_uc011lfg.1_Missense_Mutation_p.P163S|STAU2_uc003xzn.2_Missense_Mutation_p.P303S|STAU2_uc011lfh.1_Missense_Mutation_p.P231S|STAU2_uc003xzo.2_Missense_Mutation_p.P335S|STAU2_uc003xzp.2_Missense_Mutation_p.P303S|STAU2_uc011lfi.1_Missense_Mutation_p.P297S|STAU2_uc003xzq.2_Missense_Mutation_p.P115S|STAU2_uc010lzk.2_Missense_Mutation_p.P303S|STAU2_uc010lzl.1_Missense_Mutation_p.P163S	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	staufen homolog 2 isoform e	335	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding				0	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CGACGTCGAGGCATTCCTCTT	0.433000												
DPY19L4	286148	broad.mit.edu	37	8	95751977	95751977	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:95751977G>A	uc003ygx.2	+	6	694	c.570G>A	c.(568-570)TGG>TGA	p.W190*	DPY19L4_uc003ygy.2_Nonsense_Mutation_p.W127*	NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	190	Helical; (Potential).					integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					GTGGAACATGGCTAGCAGGAA	0.343000												
RIMS2	9699	broad.mit.edu	37	8	105161049	105161049	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:105161049C>T	uc003yls.2	+	23	3602	c.3361C>T	c.(3361-3363)CGC>TGC	p.R1121C	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.R1110C|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1160					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)			ACGGAAAAGTCGCAGTGCTTC	0.453000										HNSCC(12;0.0054)		
TM7SF4	81501	broad.mit.edu	37	8	105361503	105361503	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:105361503G>T	uc003ylx.1	+	2	772	c.723G>T	c.(721-723)AAG>AAT	p.K241N		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	241					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTGGTTGGAAGTATGAAAACA	0.502000												
ZHX1	11244	broad.mit.edu	37	8	124265762	124265762	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:124265762T>C	uc003yqe.2	-	3	2855	c.2425A>G	c.(2425-2427)ATG>GTG	p.M809V	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.M809V|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.M809V	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	809	Homeobox 5.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCATAGCCCATATGTGATTTG	0.348000												
FER1L6	654463	broad.mit.edu	37	8	125083798	125083798	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:125083798G>A	uc003yqw.2	+	31	4224	c.4018G>A	c.(4018-4020)GGG>AGG	p.G1340R	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1340	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGAGGACAGCGGGCAGCTGAG	0.517000												
TG	7038	broad.mit.edu	37	8	133898733	133898733	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:133898733G>A	uc003ytw.2	+	9	1157	c.1116G>A	c.(1114-1116)TTG>TTA	p.L372L		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	372					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAGGCCTTGTCCAGACTCT	0.502000												
WISP1	8840	broad.mit.edu	37	8	134239730	134239730	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:134239730G>A	uc003yub.2	+	5	957	c.881G>A	c.(880-882)CGC>CAC	p.R294H	WISP1_uc003yuc.2_Missense_Mutation_p.R207H|WISP1_uc010meb.2_Missense_Mutation_p.R122H|WISP1_uc010mec.2_Silent_p.T142T|WISP1_uc010med.2_Missense_Mutation_p.R49H|WISP1_uc003yud.2_RNA	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	294	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATCAGCACACGCTCCTATCAA	0.522000												
KCNK9	51305	broad.mit.edu	37	8	140631311	140631311	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:140631311C>T	uc003yvf.1	-	2	379	c.315G>A	c.(313-315)GCG>GCA	p.A105A	KCNK9_uc003yvg.1_Silent_p.A105A|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	105	Extracellular (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			AGGCCTTGCCCGCATCGGTGC	0.612000												
FLJ43860	389690	broad.mit.edu	37	8	142500242	142500242	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:142500242G>A	uc003ywi.2	-	5	753	c.672C>T	c.(670-672)TAC>TAT	p.Y224Y	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	224							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGCCCATCACGTAGAGGAGGC	0.637000												
SCRT1	83482	broad.mit.edu	37	8	145557213	145557213	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:145557213G>A	uc003zbw.1	-	2	793	c.681C>T	c.(679-681)TGC>TGT	p.C227C		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	227	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion 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;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			ACACCTTGCCGCACGTCGGGC	0.682000												
DOCK8	81704	broad.mit.edu	37	9	332438	332438	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:332438C>T	uc003zgf.2	+	10	1197	c.1085C>T	c.(1084-1086)GCA>GTA	p.A362V	DOCK8_uc011lls.1_Missense_Mutation_p.A362V|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.A294V|DOCK8_uc003zgg.2_Missense_Mutation_p.A294V|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	362	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAGACTGTGCAGAGCCCTAC	0.328000												
DDX58	23586	broad.mit.edu	37	9	32526164	32526164	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:32526164T>C	uc003zra.2	-	1	159	c.1A>G	c.(1-3)ATG>GTG	p.M1V	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.M1V|DDX58_uc011lnr.1_5'UTR	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	1	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TCGGTGGTCATGCCGGCCTCT	0.612000												
ZBTB5	9925	broad.mit.edu	37	9	37440593	37440593	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:37440593C>G	uc003zzx.2	-	2	2156	c.1956G>C	c.(1954-1956)CAG>CAC	p.Q652H		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	652	C2H2-type 2; atypical.				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)		GGTGGCTGGACTGACTAAACC	0.488000												
TMC1	117531	broad.mit.edu	37	9	75387335	75387335	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:75387335G>A	uc004aiz.1	+	13	1288	c.748G>A	c.(748-750)GCA>ACA	p.A250T	TMC1_uc010moz.1_Missense_Mutation_p.A208T|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.A104T|TMC1_uc010mpa.1_Missense_Mutation_p.A104T	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	250	Extracellular (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						TCAGGGTTTGGCACAATATTC	0.368000												
TLE4	7091	broad.mit.edu	37	9	82323572	82323572	+	Silent	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:82323572C>A	uc004ald.2	+	14	2058	c.1209C>A	c.(1207-1209)CCC>CCA	p.P403P	TLE4_uc004alc.2_Silent_p.P378P|TLE4_uc010mpr.2_Silent_p.P257P|TLE4_uc004ale.2_Silent_p.P15P|TLE4_uc011lsq.1_Silent_p.P346P|TLE4_uc010mps.2_Silent_p.P302P|TLE4_uc004alf.2_Silent_p.P317P	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						GGATTGTGCCCCATGCTGGAA	0.488000												
AGTPBP1	23287	broad.mit.edu	37	9	88190328	88190328	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:88190328T>C	uc011ltd.1	-	24	3438	c.3405A>G	c.(3403-3405)TTA>TTG	p.L1135L	AGTPBP1_uc004aod.3_Silent_p.L761L|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Silent_p.L1095L|AGTPBP1_uc011lte.1_Silent_p.L1147L	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1135					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						TTTTCAAACGTAAAAGACCAA	0.358000												
ROR2	4920	broad.mit.edu	37	9	94493197	94493197	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:94493197G>A	uc004arj.1	-	7	1377	c.1178C>T	c.(1177-1179)TCG>TTG	p.S393L	ROR2_uc004ari.1_Missense_Mutation_p.S253L|ROR2_uc004ark.2_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	393	Extracellular (Potential).|Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						CATACTACACGAGGGTACGTC	0.532000												
ASPN	54829	broad.mit.edu	37	9	95219673	95219673	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:95219673A>G	uc004ase.1	-	8	1284	c.1040T>C	c.(1039-1041)ATA>ACA	p.I347T	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_3'UTR	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	asporin precursor	347	LRR 10.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding				0						GAATAAACTTATTGCACTGTA	0.388000												
ZNF484	83744	broad.mit.edu	37	9	95609710	95609710	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:95609710T>C	uc004asu.1	-	5	1508	c.1359A>G	c.(1357-1359)TCA>TCG	p.S453S	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Silent_p.S455S|ZNF484_uc010mrb.1_Silent_p.S417S|ZNF484_uc004asv.1_Silent_p.S417S	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	453	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATGGAGTTGTGATTTTTTAA	0.383000												
SUSD3	203328	broad.mit.edu	37	9	95838255	95838255	+	Splice_Site	SNP	G	G	A	rs141762113	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:95838255G>A	uc004atb.2	+	2	313	c.277_splice	c.e2+1	p.L93_splice	SUSD3_uc004atc.2_Splice_Site_p.L80_splice	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	sushi domain containing 3							integral to membrane				breast(2)|skin(2)|ovary(1)|lung(1)	6						GTGTGCAAACGTAAGGACCCC	0.637000												
PTCH1	5727	broad.mit.edu	37	9	98244469	98244469	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:98244469G>A	uc004avk.3	-	4	789	c.601C>T	c.(601-603)CAT>TAT	p.H201Y	PTCH1_uc010mro.2_Missense_Mutation_p.H50Y|PTCH1_uc010mrp.2_Missense_Mutation_p.H50Y|PTCH1_uc010mrq.2_Missense_Mutation_p.H50Y|PTCH1_uc004avl.3_Missense_Mutation_p.H50Y|PTCH1_uc010mrr.2_Missense_Mutation_p.H135Y|PTCH1_uc004avm.3_Missense_Mutation_p.H200Y|PTCH1_uc010mrs.1_5'Flank|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_Intron|PTCH1_uc004avo.2_Missense_Mutation_p.H135Y|PTCH1_uc010mrv.1_RNA	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	201	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TAACACAAATGTTCCAATTTC	0.284000									Basal_Cell_Nevus_syndrome			
C9orf156	51531	broad.mit.edu	37	9	100678467	100678467	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:100678467A>G	uc004axv.1	-	2	307	c.230T>C	c.(229-231)CTA>CCA	p.L77P	C9orf156_uc004axw.1_5'UTR|C9orf156_uc004axx.1_5'UTR|C9orf156_uc010msq.1_5'UTR	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Nef associated protein 1	77					interspecies interaction between organisms		hydrolase activity				0		Acute lymphoblastic leukemia(62;0.158)				AAACTGTTCTAGGCCCATCAA	0.408000												
ANKS6	203286	broad.mit.edu	37	9	101547146	101547146	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:101547146C>T	uc004ayu.2	-	3	896	c.875G>A	c.(874-876)AGG>AAG	p.R292K	ANKS6_uc004ayt.2_5'UTR|ANKS6_uc004ayx.1_5'Flank|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	292	ANK 8.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				ATCAGGTCGCCTTTTCTCCTC	0.353000												
COL15A1	1306	broad.mit.edu	37	9	101747954	101747954	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:101747954G>A	uc004azb.1	+	3	414	c.208G>A	c.(208-210)GGG>AGG	p.G70R	COL15A1_uc004aza.2_Missense_Mutation_p.G70R	NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	70	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				CTACAGTTTCGGGCCTGGTGC	0.627000												
ACTL7A	10881	broad.mit.edu	37	9	111625036	111625036	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:111625036C>T	uc004bdj.1	+	1	434	c.434C>T	c.(433-435)ACA>ATA	p.T145I		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	145						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						GACTGGGATACAGTGCAGGAT	0.532000												
PTPN3	5774	broad.mit.edu	37	9	112207536	112207536	+	Silent	SNP	C	C	T	rs150667989	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:112207536C>T	uc004bed.2	-	7	562	c.450G>A	c.(448-450)GCG>GCA	p.A150A	PTPN3_uc004beb.2_Silent_p.A19A|PTPN3_uc004bec.2_Silent_p.A19A|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.A150A|PTPN3_uc011lwh.1_Silent_p.A41A	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	150	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						CGGCATAGGACGCTAGAACCA	0.453000												
SVEP1	79987	broad.mit.edu	37	9	113245948	113245948	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:113245948C>A	uc010mtz.2	-	10	2293	c.1956G>T	c.(1954-1956)TGG>TGT	p.W652C	SVEP1_uc010mua.1_Missense_Mutation_p.W652C|SVEP1_uc004beu.2_Missense_Mutation_p.W652C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	652	HYR 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GAGATCTGCACCAGTCTATGA	0.483000												
PTGR1	22949	broad.mit.edu	37	9	114345823	114345823	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:114345823C>T	uc004bfh.2	-	6	527	c.424G>A	c.(424-426)GGA>AGA	p.G142R	PTGR1_uc011lwr.1_Missense_Mutation_p.G142R|PTGR1_uc004bfi.3_Missense_Mutation_p.G142R|PTGR1_uc004bfj.3_Missense_Mutation_p.G19R|PTGR1_uc010mue.2_Missense_Mutation_p.G142R	NM_012212	NP_036344	Q14914	PTGR1_HUMAN	prostaglandin reductase 1 isoform 1	142					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding				0						ACTGTTTCTCCACCCTTCACA	0.448000												
ZNF618	114991	broad.mit.edu	37	9	116750765	116750765	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:116750765A>G	uc004bid.2	+	3	341	c.242A>G	c.(241-243)AAG>AGG	p.K81R	ZNF618_uc004bib.1_Missense_Mutation_p.K81R|ZNF618_uc004bic.2_Missense_Mutation_p.K81R|ZNF618_uc011lxi.1_Missense_Mutation_p.K81R|ZNF618_uc011lxj.1_Missense_Mutation_p.K81R	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGCGAGGCCAAGGAGGAGAAG	0.627000												
PAPPA	5069	broad.mit.edu	37	9	119130012	119130012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:119130012G>A	uc004bjn.2	+	19	4965	c.4584G>A	c.(4582-4584)TGG>TGA	p.W1528*	PAPPA_uc011lxq.1_Nonsense_Mutation_p.W903*	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1528	Sushi 5.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						TCCCCCACTGGCTGAACCCCA	0.512000												
DAB2IP	153090	broad.mit.edu	37	9	124532938	124532938	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:124532938G>A	uc004bln.2	+	11	1998	c.1929G>A	c.(1927-1929)CCG>CCA	p.P643P	DAB2IP_uc004blo.2_Silent_p.P547P|DAB2IP_uc004blp.2_Silent_p.P98P	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	671					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 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 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 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|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						CCTCCACACCGGGCTCTGGCA	0.622000												
ZBTB6	10773	broad.mit.edu	37	9	125673938	125673938	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:125673938T>C	uc004bnh.2	-	2	503	c.414A>G	c.(412-414)CAA>CAG	p.Q138Q		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTCAGTGTGTTGGTTGTTGT	0.373000												
TBC1D13	54662	broad.mit.edu	37	9	131568559	131568559	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:131568559G>A	uc010myj.2	+	11	1229	c.1106G>A	c.(1105-1107)GGG>GAG	p.G369E	TBC1D13_uc010myk.2_Missense_Mutation_p.G244E|TBC1D13_uc010myl.2_Missense_Mutation_p.G188E	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	369						intracellular	Rab GTPase activator activity				0						TTGCTGGAAGGGGACTTCACT	0.627000												
BAT2L1	84726	broad.mit.edu	37	9	134322525	134322525	+	Silent	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:134322525T>C	uc004can.3	+	7	964	c.909T>C	c.(907-909)TTT>TTC	p.F303F	BAT2L1_uc010mzj.1_5'Flank|BAT2L1_uc004cam.1_Silent_p.F303F	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	303							protein binding				0						GAGGCTCTTTTCCCCTTCCTC	0.473000												
GFI1B	8328	broad.mit.edu	37	9	135862760	135862760	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:135862760G>A	uc004ccg.2	+	3	343	c.192G>A	c.(190-192)CCG>CCA	p.P64P	GFI1B_uc010mzy.2_Silent_p.P64P	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	64					cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		AACGAGAGCCGGAGCTGGAGC	0.617000												
SARDH	1757	broad.mit.edu	37	9	136597638	136597638	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:136597638C>A	uc004cep.3	-	3	551	c.417G>T	c.(415-417)GAG>GAT	p.E139D	SARDH_uc004ceo.2_Missense_Mutation_p.E139D|SARDH_uc011mdn.1_Missense_Mutation_p.E139D|SARDH_uc011mdo.1_Translation_Start_Site	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	139					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCCCGTCTCCTCCTCCAGCT	0.672000												
RXRA	6256	broad.mit.edu	37	9	137328340	137328340	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:137328340G>A	uc004cfb.2	+	10	1431	c.1269G>A	c.(1267-1269)CCG>CCA	p.P423P	RXRA_uc004cfc.1_Silent_p.P326P	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	423	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	TCCGCCTGCCGGCTCTGCGCT	0.607000												
CAMSAP1	157922	broad.mit.edu	37	9	138713536	138713536	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:138713536C>T	uc004cgr.3	-	11	2971	c.2971G>A	c.(2971-2973)GTG>ATG	p.V991M	CAMSAP1_uc004cgq.3_Missense_Mutation_p.V881M|CAMSAP1_uc010nbg.2_Missense_Mutation_p.V713M	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	991						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGCAGAGCCACAGGGTCTTTT	0.537000												
SLC34A3	142680	broad.mit.edu	37	9	140127502	140127502	+	Silent	SNP	A	A	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:140127502A>G	uc004cmf.1	+	6	681	c.495A>G	c.(493-495)GTA>GTG	p.V165V	SLC34A3_uc004cmc.1_Silent_p.V22V|SLC34A3_uc004cmd.1_Silent_p.V165V|SLC34A3_uc011met.1_Silent_p.V165V	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	165	Cytoplasmic (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GTGTCAACGTAGGCACATCCA	0.647000												
P2RY8	286530	broad.mit.edu	37	X	1584882	1584882	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:1584882C>A	uc004cpz.2	-	2	818	c.570G>T	c.(568-570)TGG>TGT	p.W190C		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	190	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		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)				GGAACACGGCCCACATGGCCA	0.617000			T	CRLF2	B-ALL|Downs associated ALL							
PCYT1B	9468	broad.mit.edu	37	X	24608251	24608251	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:24608251G>A	uc004dbi.2	-	4	608	c.375C>T	c.(373-375)ACC>ACT	p.T125T	PCYT1B_uc004dbk.3_Silent_p.T125T|PCYT1B_uc004dbj.2_Silent_p.T107T	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	choline phosphate cytidylyltransferase 1 beta	125	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity				0					Choline(DB00122)	CATTCATCACGGTGAAACCTT	0.493000												
FAM47B	170062	broad.mit.edu	37	X	34962029	34962029	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:34962029C>T	uc004ddi.1	+	1	1099	c.1081C>T	c.(1081-1083)CGG>TGG	p.R361W		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	361										ovary(3)|breast(1)	4						GGAAGACGCACGGGCTCGTTG	0.532000												
DDX3X	1654	broad.mit.edu	37	X	41201759	41201759	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:41201759G>A	uc004dfe.2	+	5	1151	c.296G>A	c.(295-297)CGT>CAT	p.R99H	DDX3X_uc010nhf.1_Missense_Mutation_p.R83H|DDX3X_uc004dff.2_Missense_Mutation_p.R99H|DDX3X_uc011mkq.1_Missense_Mutation_p.R83H|DDX3X_uc011mkr.1_Missense_Mutation_p.R99H|DDX3X_uc011mks.1_Missense_Mutation_p.R99H|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	99					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						TTTGATGATCGTGGACGGAGT	0.423000										HNSCC(61;0.18)		
AR	367	broad.mit.edu	37	X	66765081	66765081	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:66765081C>T	uc004dwu.1	+	1	1208	c.93C>T	c.(91-93)CGC>CGT	p.R31R	AR_uc011mpd.1_Silent_p.R31R|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.R31R	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	31	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AGAGCGTGCGCGAAGTGATCC	0.572000									Androgen_Insensitivity_Syndrome			
PCDH11X	27328	broad.mit.edu	37	X	91873424	91873424	+	Silent	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:91873424C>T	uc004efk.1	+	7	4374	c.3529C>T	c.(3529-3531)CTG>TTG	p.L1177L	PCDH11X_uc004efl.1_Silent_p.L1167L|PCDH11X_uc004efo.1_Silent_p.L1140L|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Silent_p.L1169L|PCDH11X_uc004efn.1_Silent_p.L1159L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1177	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CAGCCCACCACTGTCACAGGC	0.572000												
CSTF2	1478	broad.mit.edu	37	X	100077380	100077380	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:100077380C>T	uc004egh.2	+	3	336	c.278C>T	c.(277-279)GCC>GTC	p.A93V	CSTF2_uc010nnd.2_Missense_Mutation_p.A93V|CSTF2_uc004egi.2_Missense_Mutation_p.A93V	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	93	RRM.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						GACAATGCTGCCAGTGAAAAG	0.443000												
DCAF12L1	139170	broad.mit.edu	37	X	125685490	125685490	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:125685490C>T	uc004eul.2	-	1	1353	c.1102G>A	c.(1102-1104)GGT>AGT	p.G368S		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	368	WD 4.									skin(3)|ovary(1)	4						GAGCCCTGACCGGTGCCCACA	0.632000												
IGSF1	3547	broad.mit.edu	37	X	130408768	130408768	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:130408768G>T	uc004ewd.2	-	18	3794	c.3556C>A	c.(3556-3558)CCC>ACC	p.P1186T	IGSF1_uc004ewe.3_Missense_Mutation_p.P1180T|IGSF1_uc004ewf.2_Missense_Mutation_p.P1166T	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1186	Extracellular (Potential).|Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						CCTGGCAGGGGTCCTCGGCAC	0.502000												
LDOC1	23641	broad.mit.edu	37	X	140271020	140271020	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:140271020G>A	uc004fbj.2	-	1	291	c.187C>T	c.(187-189)CGG>TGG	p.R63W		NM_012317	NP_036449	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	63					negative regulation of cell proliferation	nucleus	protein binding				0	Acute lymphoblastic leukemia(192;7.65e-05)					TCGGGGAGCCGGGAGCTCTCG	0.622000												
CXorf40B	541578	broad.mit.edu	37	X	149101879	149101879	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:149101879G>A	uc004fdy.2	-	4	730	c.214C>T	c.(214-216)CTC>TTC	p.L72F	CXorf40B_uc011mxs.1_RNA	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN	hypothetical protein LOC541578	72											0	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTCCTGAGCAAGGCCTGA	0.562000												
CXorf40B	541578	broad.mit.edu	37	X	149101975	149101975	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:149101975C>T	uc004fdy.2	-	4	634	c.118G>A	c.(118-120)GCC>ACC	p.A40T	CXorf40B_uc011mxs.1_RNA	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN	hypothetical protein LOC541578	40											0	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGGACGGCGATGGTACAG	0.587000												
ZNF185	7739	broad.mit.edu	37	X	152085675	152085675	+	Silent	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:152085675G>A	uc010ntv.1	+	4	262	c.225G>A	c.(223-225)AGG>AGA	p.R75R	ZNF185_uc011myg.1_Silent_p.R75R|ZNF185_uc011myh.1_Silent_p.R75R|ZNF185_uc011myi.1_Silent_p.R75R|ZNF185_uc011myj.1_Silent_p.R75R|ZNF185_uc011myk.1_Silent_p.R75R|ZNF185_uc004fgw.3_5'Flank|ZNF185_uc004fgu.2_5'Flank	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	75						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCGGCAGGCCTCCGAGCA	0.572000												
CTAG2	30848	broad.mit.edu	37	X	153881608	153881608	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:153881608G>A	uc004fmi.1	-	1	235	c.182C>T	c.(181-183)CCG>CTG	p.P61L	CTAG2_uc004fmh.1_Missense_Mutation_p.P61L	NM_020994	NP_066274	O75638	CTAG2_HUMAN	cancer/testis antigen 2 isoform LAGE-1b	61	Gly-rich.					centrosome				pancreas(1)	1	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)					CGGACCCCGCGGGGCGCCTCC	0.746000												
BRCC3	79184	broad.mit.edu	37	X	154305518	154305518	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:154305518T>C	uc004fna.2	+	4	362	c.269T>C	c.(268-270)GTA>GCA	p.V90A	BRCC3_uc011mzy.1_Missense_Mutation_p.V91A|BRCC3_uc011mzz.1_RNA|BRCC3_uc004fnb.2_Missense_Mutation_p.V90A	NM_024332	NP_077308	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	90					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(3)|ovary(1)|large_intestine(1)|breast(1)	6	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAGGACCGAGTAGAAATTTCT	0.448000												
USP9Y	8287	broad.mit.edu	37	Y	14951943	14951943	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrY:14951943G>A	uc004fst.1	+	36	6436	c.5491G>A	c.(5491-5493)GTA>ATA	p.V1831I	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	1831					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						ACCTTACACAGTAGCAGGTGT	0.393000												
ZCCHC11	23318	broad.mit.edu	37	1	52924124	52924124	+	Splice_Site	DEL	A	A	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:52924123_52924123TA>T	uc001cty.2	-	20	3575	c.3322_splice	c.e20-1	p.R1108_splice	ZCCHC11_uc001ctx.2_Splice_Site_p.R1108_splice|ZCCHC11_uc009vze.1_Splice_Site_p.R1108_splice|ZCCHC11_uc009vzf.1_Intron	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1108					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GTCACATCGCTAAAAAACAAC	0.388												
USP34	9736	broad.mit.edu	37	2	61577527	61577527	+	Splice_Site	DEL	A	A	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	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												
MMAB	326625	broad.mit.edu	37	12	109999660	109999660	+	Splice_Site	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:109999659_109999659TG>T	uc001tou.3	-	5	422	c.349_splice	c.e5-1	p.I117_splice	MMAB_uc001tov.3_Splice_Site|MMAB_uc010sxq.2_Splice_Site_p.I26_splice	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	117					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCACTGGATCTGGGGGGCGAC	0.577												
GPR61	83873	broad.mit.edu	37	1	110086456	110086456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:110086456delC	uc001dxy.2	+	2	1495	c.812delC	c.(811-813)GCCfs	p.A271fs		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	271	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCTCGGGGGCCCCCCAGACC	0.662												
KCNN3	3782	broad.mit.edu	37	1	154842106	154842106	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:154842106delG	uc001ffp.2	-	1	649	c.335delC	c.(334-336)CCTfs	p.P112fs	KCNN3_uc009wox.1_Frame_Shift_Del_p.P112fs	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	117						integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GTTGGACGAAGGGGGGGCCCT	0.612												
DDX50	79009	broad.mit.edu	37	10	70673882	70673882	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:70673882delA	uc001jou.2	+	7	1118	c.1011delA	c.(1009-1011)GCAfs	p.A337fs	DDX50_uc001jot.2_Frame_Shift_Del_p.A337fs|DDX50_uc010qjc.1_Frame_Shift_Del_p.A337fs	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	337	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						ACAAAGTTGCAAAAAAATACA	0.343												
C10orf54	64115	broad.mit.edu	37	10	73511467	73511467	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:73511467delG	uc001jsd.2	-	6	997	c.856delC	c.(856-858)CTGfs	p.L286fs	CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Frame_Shift_Del_p.L154fs|C10orf54_uc009xqm.2_Frame_Shift_Del_p.L124fs	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	platelet receptor Gi24 precursor	286	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)|central_nervous_system(1)	3						GGAGGAGACAGGGGGGTGCTG	0.617												
CPEB3	22849	broad.mit.edu	37	10	93999953	93999953	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:93999953delG	uc001khw.1	-	2	328	c.155delC	c.(154-156)GCAfs	p.A52fs	CPEB3_uc001khu.1_Frame_Shift_Del_p.A52fs|CPEB3_uc001khv.1_Frame_Shift_Del_p.A52fs|CPEB3_uc010qnn.1_Frame_Shift_Del_p.A52fs	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding	52	Pro-rich.						nucleotide binding|RNA binding				0		Colorectal(252;0.0869)				GGCCGGCACTGCGCTGTTTTC	0.597												
PSD	5662	broad.mit.edu	37	10	104176197	104176197	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:104176197delG	uc001kvg.1	-	2	1126	c.599delC	c.(598-600)CCTfs	p.P200fs	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Frame_Shift_Del_p.P200fs|PSD_uc001kvi.1_Frame_Shift_Del_p.P200fs|FBXL15_uc001kvj.1_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	200					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CAGGCGCTCAGGGGGGCCCCC	0.652												
OR2D3	120775	broad.mit.edu	37	11	6942990	6942991	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:6942990_6942991insT	uc010rav.1	+	1	758_759	c.758_759insT	c.(757-759)GCTfs	p.A253fs		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGACTCAAGGCTTTTTCCACCT	0.465												
DCP1B	196513	broad.mit.edu	37	12	2062122	2062122	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:2062122delA	uc001qjx.1	-	7	1064	c.984delT	c.(982-984)TTTfs	p.F328fs	DCP1B_uc010sdy.1_Frame_Shift_Del_p.F226fs	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	328					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CAGGTCCTGTAAAAAATTCTC	0.493												
GPR162	27239	broad.mit.edu	37	12	6936082	6936082	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:6936082delC	uc001qqw.1	+	5	2015	c.1480delC	c.(1480-1482)CCCfs	p.P494fs	LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|LEPREL2_uc001qrb.1_5'Flank|GPR162_uc001qqx.1_Frame_Shift_Del_p.P210fs|GPR162_uc009zfd.1_Frame_Shift_Del_p.P190fs|GPR162_uc001qqy.1_Intron	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	494	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGGTGGGGGACCCCCACGGGG	0.637												
ABCD2	225	broad.mit.edu	37	12	39997743	39997745	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:39997743_39997745delCTC	uc001rmb.2	-	5	1895_1897	c.1469_1471delGAG	c.(1468-1473)GGAGAA>GAA	p.G490del		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	490	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						GCCACCACTTCTCCTGCTGGTGT	0.340												
KLF5	688	broad.mit.edu	37	13	73636730	73636730	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:73636730delA	uc001vje.2	+	2	1317	c.993delA	c.(991-993)ACAfs	p.T331fs	KLF5_uc001vjd.2_Frame_Shift_Del_p.T240fs	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	331					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		ATGCTGCTACAATTGCTTCTA	0.463												
CLYBL	171425	broad.mit.edu	37	13	100543659	100543660	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:100543659_100543660insA	uc001vok.2	+	8	1029_1030	c.1015_1016insA	c.(1015-1017)GAAfs	p.E339fs		NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like precursor	339					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCCATCAAGGAAAAATGATCT	0.450												
PCK2	5106	broad.mit.edu	37	14	24567477	24567479	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:24567477_24567479delCTT	uc001wlt.2	+	3	473_475	c.341_343delCTT	c.(340-345)CCTTCT>CCT	p.S115del	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_In_Frame_Del_p.S127del|PCK2_uc001wls.2_In_Frame_Del_p.S115del|PCK2_uc010tnw.1_5'UTR|PCK2_uc010ald.2_5'UTR|PCK2_uc010ale.2_5'UTR|PCK2_uc010tnx.1_5'UTR|PCK2_uc001wlu.3_5'UTR	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	115					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		ATTGTAACTCCTTCTCAGCGGGA	0.616												
TRPM7	54822	broad.mit.edu	37	15	50931657	50931658	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:50931657_50931658insC	uc001zyt.3	-	6	887_888	c.623_624insG	c.(622-624)GGAfs	p.G208fs	TRPM7_uc010bew.1_Frame_Shift_Ins_p.G208fs	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	208	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTTCAATCACTCCCCATGGAGC	0.327												
AKAP13	11214	broad.mit.edu	37	15	86278855	86278855	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:86278855delA	uc002blv.1	+	32	7676	c.7506delA	c.(7504-7506)CTAfs	p.L2502fs	AKAP13_uc002blu.1_Frame_Shift_Del_p.L2506fs|AKAP13_uc002blw.1_Frame_Shift_Del_p.L967fs|AKAP13_uc002blx.1_Frame_Shift_Del_p.L747fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2502	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	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						ATAGTGGCCTAAAAAAGGTAT	0.358												
SNX29	92017	broad.mit.edu	37	16	12492337	12492338	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:12492337_12492338delAG	uc002dby.3	+	10	835_836	c.779_780delAG	c.(778-780)CAGfs	p.Q260fs		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	260					cell communication		phosphatidylinositol binding			ovary(1)	1						TCCGAAGACCAGAGTTTGTCGG	0.475												
RNF167	26001	broad.mit.edu	37	17	4844271	4844272	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:4844271_4844272insG	uc002fzq.2	+	3	483_484	c.67_68insG	c.(67-69)CGGfs	p.R23fs	SLC25A11_uc002fzo.1_5'Flank|SLC25A11_uc002fzp.1_5'Flank|RNF167_uc002fzr.2_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzs.2_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzt.2_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzu.2_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzv.2_5'UTR|RNF167_uc002fzw.1_5'UTR|RNF167_uc002fzx.2_5'UTR|RNF167_uc002fzy.2_5'Flank	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	ring finger protein 167 precursor	23					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						GGCCCCGACCCGGGGGCTCATT	0.653												
TLE2	7089	broad.mit.edu	37	19	3013795	3013796	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:3013795_3013796insG	uc002lww.2	-	11	1007_1008	c.744_745insC	c.(742-747)CCCAGCfs	p.P248fs	TLE2_uc010xhb.1_5'UTR|TLE2_uc010dth.2_Frame_Shift_Ins_p.P249fs|TLE2_uc010xhc.1_Frame_Shift_Ins_p.P126fs|TLE2_uc010dti.2_Frame_Shift_Ins_p.P262fs|TLE2_uc010xhd.1_Frame_Shift_Ins_p.P156fs	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	248_249	CCN domain.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAGCCGGGCTGGGGGGCTCTG	0.609												
TSHZ3	57616	broad.mit.edu	37	19	31768896	31768896	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:31768896delG	uc002nsy.3	-	2	1868	c.1803delC	c.(1801-1803)CCCfs	p.P601fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	601					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TCTTGGGCATGGGGGACGTCT	0.547												
PPP1R12C	54776	broad.mit.edu	37	19	55607456	55607456	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:55607456delG	uc002qix.2	-	8	1132	c.1116delC	c.(1114-1116)CCCfs	p.P372fs	PPP1R12C_uc010yfs.1_Frame_Shift_Del_p.P298fs|PPP1R12C_uc002qiy.2_Frame_Shift_Del_p.P372fs	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	372						cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CGTCCTGGATGGGGGGCCCCC	0.642												
ZSCAN18	65982	broad.mit.edu	37	19	58596141	58596141	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:58596141delG	uc002qri.2	-	7	1753	c.1444delC	c.(1444-1446)CGCfs	p.R482fs	ZSCAN18_uc002qrj.3_Frame_Shift_Del_p.R481fs|ZSCAN18_uc010yhs.1_Frame_Shift_Del_p.R346fs|ZSCAN18_uc002qrh.2_Frame_Shift_Del_p.R482fs|ZSCAN18_uc010yht.1_Frame_Shift_Del_p.R538fs|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	482					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TGGGCTTCGCGGGTGGACGGT	0.726												
SMC6	79677	broad.mit.edu	37	2	17913083	17913084	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:17913083_17913084delAC	uc002rco.2	-	6	701_702	c.405_406delGT	c.(403-408)GTGTATfs	p.V135fs	SMC6_uc010exo.2_Frame_Shift_Del_p.V135fs|SMC6_uc002rcn.2_Frame_Shift_Del_p.V135fs|SMC6_uc002rcp.1_Frame_Shift_Del_p.V161fs|SMC6_uc002rcq.2_Frame_Shift_Del_p.V161fs|SMC6_uc002rcr.1_Frame_Shift_Del_p.V135fs	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	135_136					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGTTACCATACACACTGGCTT	0.361												
SAP130	79595	broad.mit.edu	37	2	128767857	128767859	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:128767857_128767859delAGT	uc002tpp.2	-	7	1063_1065	c.931_933delACT	c.(931-933)ACTdel	p.T311del	SAP130_uc002tpn.2_In_Frame_Del_p.T72del|SAP130_uc002tpo.2_In_Frame_Del_p.T56del|SAP130_uc010fmd.2_In_Frame_Del_p.T311del|SAP130_uc002tpq.1_In_Frame_Del_p.T285del	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	311					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTGCTGAATCAGTAGCATGCGCC	0.463												
ACVR2A	92	broad.mit.edu	37	2	148680608	148680608	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:148680608delT	uc002twg.2	+	10	1413	c.1144delT	c.(1144-1146)TTTfs	p.F382fs	ACVR2A_uc010zbn.1_Frame_Shift_Del_p.F274fs|ACVR2A_uc002twh.2_Frame_Shift_Del_p.F382fs	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	382	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AAGGGATGCATTTTTGAGGAT	0.398												
SPEG	10290	broad.mit.edu	37	2	220313756	220313756	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:220313756delC	uc010fwg.2	+	4	1876	c.1876delC	c.(1876-1878)CCCfs	p.P626fs	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	626	Pro-rich.				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)		GACGAAAGCACCCCCCGGTCG	0.731											OREG0003998	type=REGULATORY REGION|Gene=AK097321|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
SLC4A11	83959	broad.mit.edu	37	20	3215425	3215425	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:3215425delA	uc002wig.2	-	2	300	c.252delT	c.(250-252)TTTfs	p.F84fs	SLC4A11_uc010zqe.1_Frame_Shift_Del_p.F111fs|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Frame_Shift_Del_p.F68fs	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	84	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						TGACATTGACAAAAAAACGGA	0.587												
GTPBP5	26164	broad.mit.edu	37	20	60770930	60770931	+	Frame_Shift_Del	DEL	CA	CA	-	rs11700220	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:60770930_60770931delCA	uc002yce.3	+	3	315_316	c.277_278delCA	c.(277-279)CACfs	p.H93fs	GTPBP5_uc011aab.1_5'UTR|GTPBP5_uc011aac.1_5'UTR|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_5'UTR|GTPBP5_uc011aaf.1_Frame_Shift_Del_p.H93fs|GTPBP5_uc011aag.1_Frame_Shift_Del_p.H93fs	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	93	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			AAGCTGCTTCCACAGTGAGCCC	0.584												
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45127647	45127649	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:45127647_45127649delCTT	uc003bfd.2	+	5	632_634	c.360_362delCTT	c.(358-363)GACTTC>GAC	p.F123del	PRR5_uc003bew.1_In_Frame_Del_p.F114del|PRR5_uc003bex.1_In_Frame_Del_p.F28del|PRR5_uc010gzt.1_In_Frame_Del_p.F146del|PRR5_uc010gzu.1_In_Frame_Del_p.F87del|PRR5_uc003bey.1_In_Frame_Del_p.F114del|PRR5_uc003bez.1_In_Frame_Del_p.F28del|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_In_Frame_Del_p.F16del|PRR5_uc003bfb.1_In_Frame_Del_p.F123del|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_In_Frame_Del_p.F22del	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						AGACCTGGGACTTCTTCTTCAGT	0.660												
NUP210	23225	broad.mit.edu	37	3	13438890	13438890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:13438890delG	uc003bxv.1	-	3	486	c.403delC	c.(403-405)CTGfs	p.L135fs		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	135	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					TTCAGCTCCAGGGGGGAGTCC	0.602												
WDR48	57599	broad.mit.edu	37	3	39135499	39135501	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:39135499_39135501delAAG	uc003cit.2	+	18	1890_1892	c.1880_1882delAAG	c.(1879-1884)AAAGAA>AAA	p.E629del	WDR48_uc011ayt.1_In_Frame_Del_p.E620del|WDR48_uc011ayu.1_In_Frame_Del_p.E547del|WDR48_uc011ayv.1_In_Frame_Del_p.E354del|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	629					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAACAGGAAAAAGAAGAAGATAT	0.389												
GORASP1	64689	broad.mit.edu	37	3	39145036	39145038	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:39145036_39145038delCTC	uc003ciw.1	-	2	168_170	c.70_72delGAG	c.(70-72)GAGdel	p.E24del	GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Intron|GORASP1_uc003ciz.1_Intron	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Golgi reassembly stacking protein 1	24	PDZ.				mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				ovary(2)|central_nervous_system(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTGGGGAGTTCTCCTGCACCTAT	0.591												
GLT8D1	55830	broad.mit.edu	37	3	52730572	52730572	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:52730572delC	uc003dfi.3	-	5	572	c.433delG	c.(433-435)GAAfs	p.E145fs	GLT8D1_uc003dfj.2_Frame_Shift_Del_p.E145fs|GLT8D1_uc003dfk.2_Frame_Shift_Del_p.E145fs|GLT8D1_uc003dfl.2_Frame_Shift_Del_p.E145fs|GLT8D1_uc003dfm.2_Frame_Shift_Del_p.E145fs|GLT8D1_uc003dfn.2_Frame_Shift_Del_p.E145fs|GLT8D1_uc003dfo.1_Frame_Shift_Del_p.E145fs	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	145	Lumenal (Potential).					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTCATGGATTCCCCCTGGTCA	0.418												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632												
HIST1H1B	3009	broad.mit.edu	37	6	27835239	27835241	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:27835239_27835241delCTT	uc003njx.2	-	1	119_121	c.67_69delAAG	c.(67-69)AAGdel	p.K23del		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	23					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						TCTTAGTTGCCTTCTTCTTAGCC	0.606												
STK38	11329	broad.mit.edu	37	6	36465583	36465583	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:36465583delA	uc003omg.2	-	11	1734	c.1146delT	c.(1144-1146)TTTfs	p.F382fs	STK38_uc003omh.2_Frame_Shift_Del_p.F382fs|STK38_uc003omi.2_Frame_Shift_Del_p.F382fs	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	382	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						CAACGCCTTCAAAAAAAGAGT	0.368												
SOBP	55084	broad.mit.edu	37	6	107955431	107955431	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:107955431delC	uc003prx.2	+	6	1887	c.1383delC	c.(1381-1383)CACfs	p.H461fs		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	461	Pro-rich.						metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCCACATCCACCCCCCGAGCA	0.746												
EPPK1	83481	broad.mit.edu	37	8	144941378	144941378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:144941378delC	uc003zaa.1	-	1	6057	c.6044delG	c.(6043-6045)GGTfs	p.G2015fs		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	2015	Plectin 34.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCGATGACACCCCCCGTGGC	0.622												
OPLAH	26873	broad.mit.edu	37	8	145113719	145113720	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:145113719_145113720delGA	uc003zar.3	-	5	625_626	c.543_544delTC	c.(541-546)TCTCGAfs	p.S181fs	OPLAH_uc003zat.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	181_182							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)	CGGATGCCTCGAGATAGCAGCC	0.678												
CNKSR2	22866	broad.mit.edu	37	X	21609256	21609256	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:21609256delA	uc004czx.1	+	15	1810	c.1774delA	c.(1774-1776)AAAfs	p.K592fs	CNKSR2_uc004czw.2_Frame_Shift_Del_p.K592fs|CNKSR2_uc011mjn.1_Frame_Shift_Del_p.K543fs|CNKSR2_uc011mjo.1_Frame_Shift_Del_p.K562fs|CNKSR2_uc004czy.2_Frame_Shift_Del_p.K184fs	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	592	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						ACAGAAATGGAAAAAATATTG	0.378												
ERCC6L	54821	broad.mit.edu	37	X	71426804	71426808	+	Frame_Shift_Del	DEL	TTAAT	TTAAT	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:71426804_71426808delTTAAT	uc004eaq.1	-	2	1906_1910	c.1809_1813delATTAA	c.(1807-1815)TCATTAATAfs	p.S603fs	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Frame_Shift_Del_p.S480fs	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	603_605	Helicase C-terminal.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					GTTTGTCTTATTAATGAGTCCTTGA	0.346												
SMAP2	64744	broad.mit.edu	37	1	40878734	40878735	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:40878733_40878734G>GA	uc001cfj.3	+	4	863_864	c.448_449G>GA	c.(448-450)gaafs	p.E150fs	SMAP2_uc010ojh.2_Frame_Shift_Ins_p.E150fs|SMAP2_uc001cfk.3_Frame_Shift_Ins_p.E120fs|SMAP2_uc021oma.1_Frame_Shift_Ins_p.E145fs|SMAP2_uc010oji.2_Frame_Shift_Ins_p.E70fs|SMAP2_uc010ojj.2_5'Flank	NM_022733	NP_001185909	Q8WU79	SMAP2_HUMAN	Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA.	150					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|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;1.04e-17)			ACCAGTTCCAGAAAAAAAATTG	0.381												
CLDN19	149461	broad.mit.edu	37	1	43200768	43200768	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:43200767_43200767AG>A	uc001cht.1	-	4	856	c.665_665CT>T	c.(664-666)ctgfs	p.L222fs	CLDN19_uc001chu.2_3'UTR|CLDN19_uc010ojv.1_3'UTR	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	222					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTACACACCCAGGGGGCCCTT	0.547												
TESK2	10420	broad.mit.edu	37	1	45812430	45812432	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:45812429_45812431GCAT>G	uc001cns.1	-	8	1216_1218	c.813_815ATGC>C	c.(811-816)gatgct>gaCt	p.A272del	TESK2_uc009vxr.1_Intron|TESK2_uc010olo.1_In_Frame_Del_p.A189del|TESK2_uc009vxs.1_In_Frame_Del_p.A64del	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	272	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GTGCTGGAAAGCATCATAGTCCA	0.498												
CYP4X1	260293	broad.mit.edu	37	1	47489498	47489500	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:47489497_47489499TCTC>T	uc001cqt.3	+	0	258_260	c.8_10TCTC>T	c.(7-12)ttctcc>tTcc	p.S4del	CYP4X1_uc001cqr.3_Intron|CYP4X1_uc001cqs.3_Intron	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	4						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GCCATGGAATTCTCCTGGCTGGA	0.695												
ZCCHC11	23318	broad.mit.edu	37	1	52924124	52924124	+	Splice_Site	DEL	A	A	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:52924123_52924123TA>T	uc001cty.2	-	20	3575	c.3322_splice	c.e20-1	p.R1108_splice	ZCCHC11_uc001ctx.2_Splice_Site_p.R1108_splice|ZCCHC11_uc009vze.1_Splice_Site_p.R1108_splice|ZCCHC11_uc009vzf.1_Intron	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1108					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GTCACATCGCTAAAAAACAAC	0.388												
OVGP1	5016	broad.mit.edu	37	1	111959068	111959069	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:111959067_111959068C>CT	uc001eba.3	-	9	1089_1090	c.1033_1034G>AG	c.(1033-1035)aggfs	p.R345fs	OVGP1_uc001eaz.3_Frame_Shift_Ins_p.R307fs|OVGP1_uc010owb.2_5'UTR	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	345					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ATGCTCTCGCCTTATAAACCAT	0.500												
SPAG17	200162	broad.mit.edu	37	1	118514590	118514590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:118514589_118514589CA>C	uc001ehk.2	-	44	6291	c.6223_6223TG>G	c.(6223-6225)gggfs	p.G2075fs	SPAG17_uc021osr.1_Frame_Shift_Del_p.G585fs	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	2075						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGATGGAACCCAAAAAGGGAT	0.413												
SEMA6C	10500	broad.mit.edu	37	1	151110223	151110225	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:151110222_151110224GGAA>G	uc001ewv.3	-	9	1055_1057	c.719_721TTCC>C	c.(718-723)ttccgc>tCgc	p.240_241FR>S	SEMA6C_uc001ewu.3_In_Frame_Del_p.240_241FR>S|SEMA6C_uc001eww.3_In_Frame_Del_p.200_201FR>S|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	240	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGACCTCGCGGAAGAAGAAGTA	0.557												
TDRD10	126668	broad.mit.edu	37	1	154493908	154493908	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr1:154493907_154493907GC>G	uc009wow.3	+	5	1159	c.321_321GC>G	c.(319-321)aggfs	p.R107fs	TDRD10_uc001ffd.3_Frame_Shift_Del_p.R107fs|TDRD10_uc001ffe.3_Frame_Shift_Del_p.R28fs	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	107	RRM.						RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGA	0.517												
RRM2	6241	broad.mit.edu	37	2	10267250	10267251	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:10267249_10267250ATT>A	uc021vdr.1	+	6	931_932	c.880_881ATT>A	c.(880-882)attfs	p.I294fs		NM_001034	NP_001159403	P31350	RIR2_HUMAN	Homo sapiens ribonucleotide reductase M2 (RRM2), transcript variant 2, mRNA.	234					DNA replication|deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		AGTGGAAGGCATTTTCTTTTCC	0.426												
KCNS3	3790	broad.mit.edu	37	2	18112530	18112530	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:18112529_18112529CG>C	uc021veh.1	+	0	254	c.254_254CG>C	c.(253-255)acgfs	p.T85fs	KCNS3_uc002rcv.3_Frame_Shift_Del_p.T85fs|KCNS3_uc002rcw.3_Frame_Shift_Del_p.T85fs	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	85					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTTATTACACGGGGAAGCTG	0.468												
MAP4K3	8491	broad.mit.edu	37	2	39552897	39552898	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:39552896_39552897C>CT	uc002rro.3	-	10	872_873	c.781_782G>AG	c.(781-783)agafs	p.R261fs	MAP4K3_uc002rrp.3_Frame_Shift_Ins_p.R261fs|MAP4K3_uc010yns.2_5'UTR	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	261	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGCAGTAGGTCTTTTTTTCGGA	0.248												
MTIF2	4528	broad.mit.edu	37	2	55464461	55464461	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:55464460_55464460AT>A	uc002ryn.3	-	15	2712	c.1975_1975AT>T	c.(1975-1977)tttfs	p.F659fs	MTIF2_uc010yox.2_Frame_Shift_Del_p.F328fs|MTIF2_uc002ryo.3_Frame_Shift_Del_p.F659fs	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	659					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GTTAGTTTAAATTTTTTTTGT	0.383												
LRP1B	53353	broad.mit.edu	37	2	141032034	141032034	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:141032033_141032033GC>G	uc002tvj.1	-	84	14074	c.13102_13102GC>C	c.(13102-13104)cacfs	p.H4368fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4368					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G4367R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		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)		ATAATGCAGTGCCCCCCATGG	0.418										TSP Lung(27;0.18)		
XIRP2	129446	broad.mit.edu	37	2	168101960	168101961	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:168101959_168101960C>CT	uc002udx.3	+	8	4146_4147	c.4057_4058C>CT	c.(4057-4059)cttfs	p.L1353fs	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Ins_p.L1178fs|XIRP2_uc010fpq.3_Frame_Shift_Ins_p.L1131fs|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1178					actin cytoskeleton organization	cell junction	actin binding	p.W1352*(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						AACAAGGTGGCTTTTTGAAACA	0.381												
COL5A2	1290	broad.mit.edu	37	2	189899775	189899775	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr2:189899774_189899774GT>G	uc002uqk.3	-	52	4496	c.4221_4221AC>C	c.(4219-4221)aacfs	p.N1407fs	COL5A2_uc010frx.3_Frame_Shift_Del_p.N983fs	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1407	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATCCTACACTGTTTTTACAGA	0.393												
CNTN6	27255	broad.mit.edu	37	3	1371501	1371502	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:1371500_1371501T>TA	uc003boz.3	+	10	1512_1513	c.1245_1246T>TA	c.(1243-1248)gttaaafs	p.V415fs	CNTN6_uc011asj.2_Frame_Shift_Ins_p.V343fs|CNTN6_uc003bpa.3_Frame_Shift_Ins_p.V415fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	415	Ig-like C2-type 5.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane		p.K418fs*63(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAGTCCAGTTAAAAAAAAGTC	0.391												
GALNTL2	117248	broad.mit.edu	37	3	16217062	16217063	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:16217061_16217062T>TG	uc003car.4	+	0	878_879	c.403_404T>TG	c.(403-405)tggfs	p.W135fs	GALNTL2_uc003caq.4_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	135						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A137fs*2(1)		NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						AAAGAGGGACTGGGGGGCTGAT	0.639												
XIRP1	165904	broad.mit.edu	37	3	39227535	39227535	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:39227534_39227534AC>A	uc003cjk.2	-	1	3632	c.3403_3403GT>T	c.(3403-3405)tggfs	p.W1135fs	XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Frame_Shift_Del_p.W1135fs	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1135							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATTGTCACCCACCCCCCAGGC	0.602												
NEK4	6787	broad.mit.edu	37	3	52771700	52771701	+	Frame_Shift_Ins	INS	-	-	CTAGTCTC			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:52771699_52771700A>ACTAGTCTC	uc003dfq.4	-	14	2538_2539	c.2335_2336T>GAGACTAGT	c.(2335-2337)gttfs	p.V779fs	NEK4_uc011bej.2_Frame_Shift_Ins_p.V690fs|NEK4_uc003dfr.3_Frame_Shift_Ins_p.V733fs	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	779					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CAAGACTTCAACTAGTCTCCTG	0.406												
POLQ	10721	broad.mit.edu	37	3	121207489	121207489	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:121207488_121207488TA>T	uc003eee.4	-	15	4419	c.4290_4290TA>A	c.(4288-4290)ttafs	p.L1430fs	POLQ_uc003eed.3_Frame_Shift_Del_p.L602fs	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1430					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CATTCTTTTTTAAAAAAAGAC	0.343								DNA polymerases (catalytic subunits)				
ILDR1	286676	broad.mit.edu	37	3	121712444	121712444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:121712443_121712443GC>G	uc003ees.3	-	6	1356	c.1153_1153GC>C	c.(1153-1155)ccafs	p.P385fs	ILDR1_uc003eeq.3_Frame_Shift_Del_p.P353fs|ILDR1_uc003eer.3_Frame_Shift_Del_p.P341fs|ILDR1_uc010hrg.3_Frame_Shift_Del_p.P296fs	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	385						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CAAGACTTTGGCCCCCGGTCC	0.592												
MSL2	55167	broad.mit.edu	37	3	135870433	135870433	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr3:135870432_135870432CT>C	uc003eqx.1	-	1	2024	c.1291_1291AG>G	c.(1291-1293)gacfs	p.D431fs	MSL2_uc011bmb.1_Frame_Shift_Del_p.D357fs|MSL2_uc021xel.1_Frame_Shift_Del_p.D357fs	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	431	Lys-rich.				histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						ACTGCTTTGTCTTTTTTAAGA	0.363												
PCGF3	10336	broad.mit.edu	37	4	728799	728799	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:728798_728798AC>A	uc011bva.1	+	5	663	c.188_188AC>A	c.(187-189)cacfs	p.H63fs	PCGF3_uc003gbc.1_Non-coding_Transcript|PCGF3_uc003gbd.1_Non-coding_Transcript|PCGF3_uc003gbe.3_Frame_Shift_Del_p.H63fs|PCGF3_uc010ibh.3_Frame_Shift_Del_p.H63fs|PCGF3_uc003gbh.3_Frame_Shift_Del_p.H29fs	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	Homo sapiens polycomb group ring finger 3 (PCGF3), mRNA.	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CACCAGAGCCACCCCCTGCAG	0.607												
GPR125	166647	broad.mit.edu	37	4	22389604	22389605	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:22389603_22389604GTC>G	uc003gqm.1	-	18	3955_3956	c.3690_3691GAC>C	c.(3688-3693)agacagfs	p.R1230fs	GPR125_uc010ieo.1_Frame_Shift_Del_p.R1086fs|GPR125_uc003gql.1_Frame_Shift_Del_p.R357fs	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	1230					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GGGTTGTACTGTCTCTCTCTGT	0.485												
ABCG2	9429	broad.mit.edu	37	4	89052271	89052272	+	Frame_Shift_Ins	INS	-	-	T	rs150450599	byFrequency	TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:89052270_89052271G>GT	uc003hrg.3	-	4	966_967	c.473_474C>AC	c.(472-474)aacfs	p.N158fs	ABCG2_uc003hrh.3_Frame_Shift_Ins_p.N158fs|ABCG2_uc003hrf.3_Frame_Shift_Ins_p.N28fs	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	158	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAATCCGTTCGTTTTTTTCATG	0.426												
USP38	84640	broad.mit.edu	37	4	144135593	144135594	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:144135592_144135593T>TA	uc003ijb.3	+	8	2997_2998	c.2463_2464T>TA	c.(2461-2466)gctaaafs	p.A821fs	USP38_uc003ija.4_Frame_Shift_Ins_p.A821fs|USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	821					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					AGAACCTTGCTAAAAAATTAAA	0.391												
TKTL2	84076	broad.mit.edu	37	4	164394544	164394544	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr4:164394543_164394543CG>C	uc003iqp.4	-	0	505	c.344_344CG>G	c.(343-345)cgafs	p.R115fs		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	115						cytoplasm	metal ion binding|transketolase activity	p.P114H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAACGGCAATCGGGGGGTAGG	0.527												
ADAMTS12	81792	broad.mit.edu	37	5	33881401	33881402	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:33881400_33881401T>TA	uc003jia.1	-	1	475_476	c.312_313A>TA	c.(310-315)tttaacfs	p.F104fs	ADAMTS12_uc010iuq.1_Frame_Shift_Ins_p.F104fs|ADAMTS12_uc003jib.1_Frame_Shift_Ins_p.F104fs	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	104					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACCGTCAAGTTAAAAAACAGGT	0.470										HNSCC(64;0.19)		
APC	324	broad.mit.edu	37	5	112164566	112164566	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr5:112164565_112164565GT>G	uc003kpz.4	+	14	1832	c.1639_1639GT>G	c.(1639-1641)gttfs	p.V547fs	APC_uc011cvt.2_Frame_Shift_Del_p.V529fs|APC_uc003kpy.4_Frame_Shift_Del_p.V547fs|APC_uc010jbz.3_Frame_Shift_Del_p.V264fs|APC_uc010jca.3_Intron	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	547	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATTGCGAGTGTTTTGAGGAA	0.308		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)		
HIST1H4C	8364	broad.mit.edu	37	6	26104418	26104419	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:26104417_26104418CTG>C	uc003ngi.3	+	0	242_243	c.242_243CTG>C	c.(241-243)actfs	p.T81fs		NM_003542	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4c (HIST1H4C), mRNA.	81					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.T81I(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AAGCGCAAAACTGTCACAGCCA	0.505												
GABBR1	2550	broad.mit.edu	37	6	29599254	29599254	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:29599253_29599253TC>T	uc003nmt.4	-	2	545	c.209_209GA>A	c.(208-210)gagfs	p.E70fs	GABBR1_uc003nmu.4_Frame_Shift_Del_p.E70fs|GABBR1_uc011dlr.2_5'UTR|GABBR1_uc011dls.1_Frame_Shift_Del_p.E70fs	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	70	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CACCTCGCGCTCCCCCCGGCA	0.632												
MRPS18B	28973	broad.mit.edu	37	6	30587710	30587712	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr6:30587709_30587711AGTT>A	uc003nqo.2	+	3	454_456	c.297_299AGTT>A	c.(295-300)aaagtt>aaAt	p.V101del	PPP1R10_uc003nqn.1_5'Flank|PPP1R10_uc010jsc.1_5'Flank|MRPS18B_uc011dml.1_In_Frame_Del_p.V101del	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN	Homo sapiens mitochondrial ribosomal protein S18B (MRPS18B), nuclear gene encoding mitochondrial protein, mRNA.	101					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GTCGGAATAAAGTTGTTGGGAAT	0.419												
MEPCE	56257	broad.mit.edu	37	7	100028068	100028069	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:100028067_100028068T>TG	uc003uuw.3	+	0	814_815	c.426_427T>TG	c.(424-429)cctgggfs	p.P142fs	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_Intron	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	142	Gly-rich.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCGGCCACCTGGGGGGGGCGG	0.693												
CBLL1	79872	broad.mit.edu	37	7	107395909	107395909	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:107395908_107395908GA>G	uc003veq.3	+	4	742	c.412_412GA>G	c.(412-414)gaafs	p.E138fs	CBLL1_uc011kme.2_Frame_Shift_Del_p.E17fs|CBLL1_uc011kmf.2_Frame_Shift_Del_p.E137fs	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	138					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TATTTTACATGAAAAAAAGGG	0.264												
LAMB4	22798	broad.mit.edu	37	7	107745044	107745045	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr7:107745043_107745044GAC>G	uc010ljo.1	-	8	975_976	c.891_892GTC>C	c.(889-894)tgtcagfs	p.C297fs	LAMB4_uc003vey.2_Frame_Shift_Del_p.C297fs	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	297	Laminin EGF-like 1.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTATTGTGCTGACACACACACT	0.495												
FZD3	7976	broad.mit.edu	37	8	28385233	28385234	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:28385232_28385233T>TG	uc003xgx.3	+	4	1484_1485	c.955_956T>TG	c.(955-957)tggfs	p.W319fs	FZD3_uc010lvb.3_Frame_Shift_Ins_p.W319fs	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	319					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)		TGTGCCAAAGTGGGGTAGTGAA	0.421												
WRN	7486	broad.mit.edu	37	8	30915971	30915972	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:30915970_30915971G>GA	uc003xio.4	+	1	795_796	c.7_8G>GA	c.(7-9)gaafs	p.E3fs		NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	3	Interaction with WRNIP1 (By similarity).				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAAGATGAGTGAAAAAAAATTG	0.356			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome			
XKR4	114786	broad.mit.edu	37	8	56270311	56270312	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:56270310_56270311G>GA	uc003xsf.3	+	1	911_912	c.879_880G>GA	c.(877-882)tggaaafs	p.W293fs		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	293						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGTTTTACTGGAAAATGGTATA	0.426												
FAM135B	51059	broad.mit.edu	37	8	139151232	139151232	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:139151231_139151231GT>G	uc003yuy.3	-	17	4070	c.3899_3899AC>C	c.(3898-3900)acafs	p.T1300fs	FAM135B_uc003yux.3_Frame_Shift_Del_p.T1201fs|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1300								p.T1300R(3)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCACTGACCTGTTTTTTGGCT	0.443										HNSCC(54;0.14)		
PLEC	5339	broad.mit.edu	37	8	144995352	144995352	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr8:144995351_144995351AC>A	uc003zaf.1	-	31	9219	c.9049_9049GT>T	c.(9049-9051)tgcfs	p.C3017fs	PLEC_uc003zab.1_Frame_Shift_Del_p.C2880fs|PLEC_uc003zac.1_Frame_Shift_Del_p.C2884fs|PLEC_uc003zad.2_Frame_Shift_Del_p.C2880fs|PLEC_uc003zae.1_Frame_Shift_Del_p.C2848fs|PLEC_uc003zag.1_Frame_Shift_Del_p.C2858fs|PLEC_uc003zah.2_Frame_Shift_Del_p.C2866fs|PLEC_uc003zaj.2_Frame_Shift_Del_p.C2907fs	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3017	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCAGAAGGCACAGGCCCGTC	0.642												
WDR5	11091	broad.mit.edu	37	9	137019598	137019598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr9:137019597_137019597AC>A	uc004cey.3	+	9	812	c.641_641AC>A	c.(640-642)aacfs	p.N214fs	WDR5_uc004cez.3_Frame_Shift_Del_p.N214fs	NM_017588	NP_438172	P61964	WDR5_HUMAN	Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA.	214					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		GATGACGACAACCCCCCCGTG	0.627												
NCOA4	8031	broad.mit.edu	37	10	51581289	51581290	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:51581288_51581289T>TA	uc001jis.4	+	4	593_594	c.390_391T>TA	c.(388-393)cttaagfs	p.L130fs	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Frame_Shift_Ins_p.L146fs|NCOA4_uc010qhd.2_Frame_Shift_Ins_p.L146fs|NCOA4_uc010qhe.2_Frame_Shift_Ins_p.L30fs|NCOA4_uc010qhf.2_5'UTR|NCOA4_uc001jit.3_Frame_Shift_Ins_p.L130fs|NCOA4_uc009xoo.3_Frame_Shift_Ins_p.L130fs	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	130					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GTTTGACCCTTAAGCCTGAAGA	0.391			T	RET	papillary thyroid							
FAM196A	642938	broad.mit.edu	37	10	128974289	128974289	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr10:128974288_128974288CT>C	uc001lju.1	-	0	413	c.372_372AG>G	c.(370-372)aagfs	p.K124fs	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Frame_Shift_Del_p.K124fs|FAM196A_uc001ljv.1_Frame_Shift_Del_p.K124fs|FAM196A_uc009yap.1_Frame_Shift_Del_p.K124fs	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	124										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGAGGTTCCCCTTTTTGCGGT	0.547												
OR2D3	120775	broad.mit.edu	37	11	6942991	6942992	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:6942990_6942991C>CT	uc010rav.2	+	0	758_759	c.758_759C>CT	c.(757-759)gctfs	p.A253fs		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGACTCAAGGCTTTTTCCACCT	0.465												
PAX6	5080	broad.mit.edu	37	11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:31812316_31812316TG>T	uc009yjr.3	-	11	1594	c.1125_1125CA>A	c.(1123-1125)ccafs	p.P375fs	PAX6_uc001mtd.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mte.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mtg.4_Frame_Shift_Del_p.P389fs|PAX6_uc001mtf.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mth.4_Frame_Shift_Del_p.P375fs|PAX6_uc021qfl.1_Frame_Shift_Del_p.P389fs|PAX6_uc021qfm.1_Frame_Shift_Del_p.P389fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGT	0.592									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation			
OR5B21	219968	broad.mit.edu	37	11	58275490	58275490	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:58275489_58275489TA>T	uc010rki.2	-	0	90	c.90_90TA>A	c.(88-90)ttafs	p.L30fs		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTAGATGAATAAAAATGCCA	0.468												
PITPNM1	9600	broad.mit.edu	37	11	67267649	67267649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:67267648_67267648TG>T	uc001olx.3	-	4	1074	c.885_885CA>A	c.(883-885)ccafs	p.P295fs	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Frame_Shift_Del_p.P295fs|PITPNM1_uc001olz.3_Frame_Shift_Del_p.P295fs	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	295					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CATCTGGGCCTGGGGGGGCCT	0.692												
KRTAP5-8	57830	broad.mit.edu	37	11	71249165	71249165	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:71249164_71249164TG>T	uc001oqr.1	+	0	94	c.63_63TG>T	c.(61-63)tgtfs	p.C21fs		NM_021046	NP_066384	O75690	KRA58_HUMAN	Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA.	21						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCTCTGGCTGTGGGGGATGTG	0.657												
HEPHL1	341208	broad.mit.edu	37	11	93754626	93754627	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:93754625_93754626A>AT	uc001pep.2	+	0	248_249	c.91_92A>AT	c.(91-93)attfs	p.I31fs		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	31	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AACGTACTACATTGGGATTGTG	0.475												
HYOU1	10525	broad.mit.edu	37	11	118918526	118918527	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:118918525_118918526G>GC	uc001puu.2	-	21	2708_2709	c.2515_2516C>GC	c.(2515-2517)gccfs	p.A839fs	HYOU1_uc001put.2_Frame_Shift_Ins_p.A804fs|HYOU1_uc010ryu.1_Frame_Shift_Ins_p.A797fs|HYOU1_uc010ryv.1_Frame_Shift_Ins_p.A728fs|HYOU1_uc001pux.3_Frame_Shift_Ins_p.A839fs	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	839						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GATGAGCCGGGCCCCCCTGGAA	0.540												
VWA5A	4013	broad.mit.edu	37	11	124005694	124005694	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr11:124005693_124005693AG>A	uc001pzu.3	+	11	1520	c.1311_1311AG>A	c.(1309-1311)tcafs	p.S437fs	VWA5A_uc001pzt.3_Frame_Shift_Del_p.S437fs	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	437	VWFA.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CCCGGGCATCAGGGGGCACCT	0.502												
ST8SIA1	6489	broad.mit.edu	37	12	22486986	22486986	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:22486985_22486985AC>A	uc001rfo.4	-	0	664	c.182_182GT>T	c.(181-183)gtgfs	p.V61fs	ST8SIA1_uc009zix.3_5'UTR	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.	61					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CTGTTGCAGCACCCCCTGCAC	0.647												
LRP1	4035	broad.mit.edu	37	12	57572242	57572242	+	Frame_Shift_Del	DEL	G	G	-	rs139915490		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:57572241_57572241CG>C	uc001snd.3	+	26	4927	c.4461_4461CG>C	c.(4459-4461)tacfs	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)	TGACGCTGTACGGGGGGGAGG	0.592												
MMAB	326625	broad.mit.edu	37	12	109999660	109999660	+	Splice_Site	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:109999659_109999659TG>T	uc001tou.3	-	5	422	c.349_splice	c.e5-1	p.I117_splice	MMAB_uc001tov.3_Splice_Site|MMAB_uc010sxq.2_Splice_Site_p.I26_splice	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	117					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCACTGGATCTGGGGGGCGAC	0.577												
ULK1	8408	broad.mit.edu	37	12	132401027	132401028	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr12:132401026_132401027G>GC	uc001uje.3	+	19	2230_2231	c.1962_1963G>GC	c.(1960-1965)acgcccfs	p.T654fs		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	654					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGGTGATGACGCCCCCTCGAAA	0.688												
PSPC1	55269	broad.mit.edu	37	13	20277345	20277346	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:20277344_20277345CAA>C	uc021rgx.1	-	9	1679_1680	c.1542_1543TTG>G	c.(1540-1545)tttgaafs	p.F514fs		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	514	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTAGGGCCTTCAAAGTTGCCCC	0.441												
CLYBL	171425	broad.mit.edu	37	13	100543660	100543661	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr13:100543659_100543660G>GA	uc001vok.3	+	7	1046_1047	c.1015_1016G>GA	c.(1015-1017)gaafs	p.E339fs		NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	339					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCCATCAAGGAAAAATGATCT	0.450												
LTBP2	4053	broad.mit.edu	37	14	75016599	75016599	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr14:75016598_75016598AC>A	uc001xqa.3	-	7	2144	c.1757_1757GT>T	c.(1756-1758)gtgfs	p.V586fs		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	586	TB 1.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACACAAAGTCACCCCCCAGAA	0.627												
TJP1	7082	broad.mit.edu	37	15	30065504	30065505	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:30065503_30065504G>GA	uc001zcr.3	-	2	616_617	c.141_142C>TC	c.(139-144)tttcagfs	p.F47fs	TJP1_uc010azl.3_Frame_Shift_Ins_p.F35fs|TJP1_uc001zcq.3_Frame_Shift_Ins_p.F51fs|TJP1_uc001zcs.3_Frame_Shift_Ins_p.F47fs	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	47	PDZ 1.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCCCCACTCTGAAAATGAGGAT	0.406												
TRPM7	54822	broad.mit.edu	37	15	50931658	50931659	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:50931657_50931658T>TC	uc001zyt.4	-	5	905_906	c.623_624A>GA	c.(622-624)ggafs	p.G208fs	TRPM7_uc010bew.2_Frame_Shift_Ins_p.G208fs	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	208					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTTCAATCACTCCCCATGGAGC	0.327												
SCAPER	49855	broad.mit.edu	37	15	77064150	77064150	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr15:77064149_77064149AT>A	uc002bby.3	-	8	1241	c.1182_1182AT>T	c.(1180-1182)aatfs	p.N394fs	SCAPER_uc002bbx.3_Frame_Shift_Del_p.N148fs|SCAPER_uc002bbz.1_Frame_Shift_Del_p.N259fs|SCAPER_uc002bca.1_Frame_Shift_Del_p.N259fs|SCAPER_uc002bcb.1_Frame_Shift_Del_p.N394fs|SCAPER_uc002bcc.1_Frame_Shift_Del_p.N394fs	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	393	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTTTTCTTCATTTACTTGTA	0.373												
GLYR1	84656	broad.mit.edu	37	16	4862229	4862230	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:4862228_4862229G>GC	uc002cxx.4	-	12	1177_1178	c.1140_1141C>GC	c.(1138-1143)gggcgcfs	p.G380fs	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Frame_Shift_Ins_p.G294fs|GLYR1_uc002cya.2_Frame_Shift_Ins_p.G374fs|GLYR1_uc010uxv.1_Frame_Shift_Ins_p.G299fs	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	380					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.R381fs*15(2)|p.G379R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCAGAAAGCGCCCCCCCCTGG	0.574												
ZC3H7A	29066	broad.mit.edu	37	16	11846657	11846657	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:11846656_11846656GT>G	uc002dbk.3	-	20	2793	c.2595_2595AC>C	c.(2593-2595)aacfs	p.N865fs	ZC3H7A_uc002dbh.3_Frame_Shift_Del_p.N5fs|ZC3H7A_uc002dbi.3_Frame_Shift_Del_p.N53fs|ZC3H7A_uc002dbj.3_Non-coding_Transcript|ZC3H7A_uc002dbl.3_Frame_Shift_Del_p.N865fs	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	865						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CACTGTTGCAGTTTTTCCCAC	0.522												
NOMO1	23420	broad.mit.edu	37	16	14989451	14989451	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:14989450_14989450GC>G	uc002dcv.3	+	30	3683	c.3617_3617GC>G	c.(3616-3618)ggcfs	p.G1206fs		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	1206						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GACAATAGCGGCCCAGAAGAT	0.562												
TMC5	79838	broad.mit.edu	37	16	19455474	19455475	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:19455473_19455474T>TG	uc002dgc.4	+	3	1608_1609	c.859_860T>TG	c.(859-861)tggfs	p.W287fs	TMC5_uc010vaq.2_Frame_Shift_Ins_p.W287fs|TMC5_uc002dgb.4_Frame_Shift_Ins_p.W287fs|TMC5_uc010var.2_Frame_Shift_Ins_p.W287fs	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	287						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGGCAGTCTTTGGGGAGAGAAT	0.495												
IL21R	50615	broad.mit.edu	37	16	27460530	27460530	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:27460529_27460529AC>A	uc002dor.2	+	9	2156	c.1608_1608AC>A	c.(1606-1608)ggafs	p.G536fs	IL21R_uc002doq.2_Frame_Shift_Del_p.G514fs|IL21R_uc002dos.2_Frame_Shift_Del_p.G514fs|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	514					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGGACGAAGGACCCCCCCGGA	0.637			T	BCL6	NHL							
NLRC5	84166	broad.mit.edu	37	16	57113198	57113201	+	Frame_Shift_Del	DEL	AGAT	AGAT	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr16:57113197_57113200CAGAT>C	uc021tiu.1	+	43	5357_5360	c.5230_5233CAGAT>C	c.(5230-5235)cagatafs	p.Q1744fs	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Frame_Shift_Del_p.Q286fs|NLRC5_uc002ekr.1_Frame_Shift_Del_p.Q631fs	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1744					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCTGCTCAGACAGATAGAGTAAGT	0.598												
RNF167	26001	broad.mit.edu	37	17	4844272	4844273	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:4844271_4844272C>CG	uc002fzs.3	+	1	516_517	c.67_68C>CG	c.(67-69)cggfs	p.R23fs	SLC25A11_uc002fzp.2_5'Flank|SLC25A11_uc002fzo.2_5'Flank|SLC25A11_uc021tod.1_5'Flank|SLC25A11_uc021toe.1_5'Flank|RNF167_uc002fzw.2_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzu.3_Frame_Shift_Ins_p.R23fs|RNF167_uc002fzy.3_5'Flank	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	Homo sapiens ring finger protein 167 (RNF167), mRNA.	23					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						GGCCCCGACCCGGGGGCTCATT	0.653												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	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												
PSMD12	5718	broad.mit.edu	37	17	65340757	65340757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:65340756_65340756CT>C	uc002jfy.3	-	8	1135	c.1049_1049AG>G	c.(1048-1050)aggfs	p.R350fs	PSMD12_uc002jga.3_Frame_Shift_Del_p.R330fs|PSMD12_uc002jfz.3_Frame_Shift_Del_p.R291fs	NM_002816	NP_002807	O00232	PSD12_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 (PSMD12), transcript variant 1, mRNA.	350	PCI.				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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GTCTTTCCACCTTTTTTCACC	0.353												
TMC8	147138	broad.mit.edu	37	17	76134524	76134525	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr17:76134523_76134524C>CT	uc002jup.2	+	12	2009_2010	c.1627_1628C>CT	c.(1627-1629)cttfs	p.L543fs	TMC8_uc002juq.2_Frame_Shift_Ins_p.L320fs|TMC8_uc002jur.1_5'UTR	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	543						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CCTGGGCCTGCTTCTGGCTGCA	0.644												
SMAD7	4092	broad.mit.edu	37	18	46474795	46474796	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr18:46474794_46474795A>AG	uc002ldg.3	-	1	913_914	c.626_627T>CT	c.(625-627)cctfs	p.P209fs	SMAD7_uc010xde.2_5'UTR|SMAD7_uc021ujr.1_Frame_Shift_Ins_p.P209fs	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	209	Important for interaction with SMURF2.|Poly-Pro.				BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TGGAGTAAGGAGGGGGGGGAGA	0.386												
TLE2	7089	broad.mit.edu	37	19	3013796	3013797	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:3013795_3013796T>TG	uc010dth.3	-	10	1010_1011	c.747_748A>CA	c.(745-750)cccagcfs	p.P249fs	TLE2_uc010xhb.2_5'UTR|TLE2_uc002lww.3_Frame_Shift_Ins_p.P248fs|TLE2_uc010xhc.2_Frame_Shift_Ins_p.P126fs|TLE2_uc010dti.3_Frame_Shift_Ins_p.P262fs|TLE2_uc010xhd.1_Frame_Shift_Ins_p.P156fs	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	248	CCN domain.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GTAGCCGGGCTGGGGGGCTCTG	0.609												
ACSBG2	81616	broad.mit.edu	37	19	6147615	6147615	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:6147614_6147614CA>C	uc002mef.1	+	2	452	c.225_225CA>C	c.(223-225)ggcfs	p.G75fs	ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Frame_Shift_Del_p.G75fs|ACSBG2_uc002meh.1_Frame_Shift_Del_p.G75fs|ACSBG2_uc002mei.1_Frame_Shift_Del_p.G25fs|ACSBG2_uc010xiz.1_Frame_Shift_Del_p.G75fs	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	75					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAAGAATGGCAAAAAGTGGG	0.448												
KLHL26	55295	broad.mit.edu	37	19	18780032	18780032	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr19:18780031_18780031GC>G	uc002njz.1	+	2	1851	c.1824_1824GC>G	c.(1822-1824)ctgfs	p.L608fs		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	608										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCGTCCTGCTGCCCCGGGCCG	0.677												
BTBD3	22903	broad.mit.edu	37	20	11899210	11899210	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:11899209_11899209GC>G	uc002wnz.3	+	0	645	c.286_286GC>G	c.(286-288)gccfs	p.A96fs	BTBD3_uc002wny.3_Frame_Shift_Del_p.A35fs|BTBD3_uc002woa.3_Frame_Shift_Del_p.A35fs|BTBD3_uc010zrf.2_5'UTR|BTBD3_uc010zrg.2_5'Flank|BTBD3_uc010zrh.2_5'Flank	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	96								p.P95T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CCTTATCCCGGCCCCAAACTG	0.483												
CD93	22918	broad.mit.edu	37	20	23065992	23065992	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:23065991_23065991TC>T	uc002wsv.3	-	0	987	c.839_839GA>A	c.(838-840)gatfs	p.D280fs		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	280	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.D280N(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAAGGAGCCATCCCCCCCTTC	0.632												
DIDO1	11083	broad.mit.edu	37	20	61511207	61511207	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr20:61511206_61511206CG>C	uc002ydr.2	-	15	6414	c.6102_6102CG>G	c.(6100-6102)ccgfs	p.P2034fs	DIDO1_uc002yds.2_Frame_Shift_Del_p.P2034fs	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2034	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCGGTGCTGCGGGGGGTGGC	0.721												
SREBF2	6721	broad.mit.edu	37	22	42271637	42271637	+	Frame_Shift_Del	DEL	C	C	-	rs79727196		TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chr22:42271636_42271636TC>T	uc003bbi.3	+	6	1463	c.1294_1294TC>T	c.(1294-1296)tccfs	p.S432fs	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	432	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGC	0.522												
FAM155B	27112	broad.mit.edu	37	X	68725613	68725614	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:68725612_68725613G>GC	uc004dxk.3	+	0	535_536	c.487_488G>GC	c.(487-489)gccfs	p.A163fs		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	163						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GACTACTCCGGCCCCCCCTCTG	0.624												
GPC4	2239	broad.mit.edu	37	X	132439923	132439923	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7703-01A-11D-2053-08	TCGA-BR-7703-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12b64874-014c-4891-baf0-ad25f27d871f	2c7c8b56-3521-48af-81e5-7788523b61c8	g.chrX:132439922_132439922TG>T	uc004exc.1	-	5	1245	c.1033_1033CA>A	c.(1033-1035)aagfs	p.K345fs	GPC4_uc011mvg.1_Frame_Shift_Del_p.K275fs	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	345					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.K345fs*49(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GGGAGGGGCTTGGGGGGTCCA	0.592												
