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
DFFB	1677	broad.mit.edu	37	1	3775293	3775293	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:3775293C>T	uc001alc.2	+	2	449	c.126C>T	c.(124-126)CGC>CGT	p.R42R	DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Silent_p.R42R|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_5'UTR|DFFB_uc001ald.2_5'UTR|KIAA0562_uc001aky.2_5'Flank|KIAA0562_uc010nzm.1_5'Flank|KIAA0562_uc001akz.2_5'Flank|DFFB_uc009vln.1_Silent_p.R42R|DFFB_uc001ala.1_Silent_p.R42R|DFFB_uc009vlo.1_Silent_p.R42R	NM_004402	NP_004393	O76075	DFFB_HUMAN	DNA fragmentation factor, 40 kD, beta	42	CIDE-N.				apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TCCCTGAGCGCGGTTCCCGGC	0.617000												
CHD5	26038	broad.mit.edu	37	1	6189120	6189120	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:6189120G>A	uc001amb.1	-	23	3497	c.3397C>T	c.(3397-3399)CGC>TGC	p.R1133C	CHD5_uc001alz.1_5'UTR|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1133	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGGTGGGCGCGGCTGAAGGCC	0.627000												
PRDM2	7799	broad.mit.edu	37	1	14107267	14107267	+	Missense_Mutation	SNP	G	G	A	rs150941804	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:14107267G>A	uc001avi.2	+	8	3833	c.2977G>A	c.(2977-2979)GTA>ATA	p.V993I	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.V993I|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.V792I|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	993	Pro-rich.|SH3-binding (Potential).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCTTCCTACCGTACCTCTTCC	0.602000												
PAX7	5081	broad.mit.edu	37	1	19062320	19062320	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:19062320C>T	uc001bay.2	+	8	1948	c.1350C>T	c.(1348-1350)ACC>ACT	p.T450T	PAX7_uc001baz.2_Silent_p.T448T|PAX7_uc010oct.1_Silent_p.T450T	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	450					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ACAGCACCACCGGCTACAGCG	0.677000			T	FOXO1A	alveolar rhabdomyosarcoma							
EPHB2	2048	broad.mit.edu	37	1	23191577	23191577	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:23191577G>A	uc009vqj.1	+	5	1320	c.1175G>A	c.(1174-1176)CGC>CAC	p.R392H	EPHB2_uc001bge.2_Missense_Mutation_p.R392H|EPHB2_uc001bgf.2_Missense_Mutation_p.R392H|EPHB2_uc010odu.1_Missense_Mutation_p.R392H|hsa-mir-4253|MI0015860_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	392	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACCGAGCCACGCATTTACATC	0.617000									Hereditary_Prostate_Cancer			
EPHB2	2048	broad.mit.edu	37	1	23233321	23233321	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:23233321C>T	uc009vqj.1	+	11	2152	c.2007C>T	c.(2005-2007)AGC>AGT	p.S669S	EPHB2_uc001bge.2_Silent_p.S670S|EPHB2_uc001bgf.2_Silent_p.S669S|EPHB2_uc010odu.1_Silent_p.S611S	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	669	Cytoplasmic (Potential).|Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACTTCCTGAGCGAAGCCTCCA	0.582000									Hereditary_Prostate_Cancer			
RHD	6007	broad.mit.edu	37	1	25617155	25617155	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:25617155C>A	uc001bjz.2	+	3	417	c.359C>A	c.(358-360)GCT>GAT	p.A120D	RHD_uc010oep.1_Missense_Mutation_p.A120D|RHD_uc001bkc.2_Missense_Mutation_p.A120D|RHD_uc009vrm.2_5'UTR|RHD_uc001bka.2_Missense_Mutation_p.A120D|RHD_uc001bkb.2_Missense_Mutation_p.A120D|RHD_uc009vrn.2_Missense_Mutation_p.A120D|RHD_uc009vro.2_Missense_Mutation_p.A120D|RHD_uc009vrp.2_Missense_Mutation_p.A120D	NM_016124	NP_057208	Q02161	RHD_HUMAN	Rh blood group D antigen isoform 1	120	Helical; (Potential).					integral to plasma membrane				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACCATGAGTGCTTTGTCGGTG	0.493000												
ARID1A	8289	broad.mit.edu	37	1	27105513	27105513	+	Splice_Site	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:27105513G>A	uc001bmv.1	+	20	5498	c.5125_splice	c.e20-1	p.L1709_splice	ARID1A_uc001bmu.1_Splice_Site_p.L1492_splice|ARID1A_uc001bmx.1_Splice_Site_p.L555_splice|ARID1A_uc009vsm.1_Splice_Site_p.L37_splice|ARID1A_uc009vsn.1_Splice_Site	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTCTTTTTAGCTCCCAGGGT	0.433000			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
MAP3K6	9064	broad.mit.edu	37	1	27685227	27685227	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:27685227G>A	uc001bny.1	-	19	2805	c.2556C>T	c.(2554-2556)CTC>CTT	p.L852L	MAP3K6_uc009vsw.1_Silent_p.L844L|MAP3K6_uc001bnz.1_Silent_p.L375L	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	852	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGGCTCCCGAGCTCGTGGA	0.617000												
PTPRU	10076	broad.mit.edu	37	1	29630479	29630479	+	Silent	SNP	G	G	A	rs145675393		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:29630479G>A	uc001bru.2	+	17	2729	c.2619G>A	c.(2617-2619)GCG>GCA	p.A873A	PTPRU_uc001brv.2_Silent_p.A863A|PTPRU_uc001brw.2_Silent_p.A863A|PTPRU_uc009vtq.2_Silent_p.A863A|PTPRU_uc009vtr.2_Silent_p.A863A	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	873	Mediates interaction with CTNNB1 (By similarity).|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCACCCTGCGGTGCGTGTCG	0.687000												
ZNF362	149076	broad.mit.edu	37	1	33741707	33741707	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:33741707C>T	uc001bxc.1	+	3	215	c.45C>T	c.(43-45)GCC>GCT	p.A15A		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCAGGATGGCCGAGCCTCGAT	0.662000												
MACF1	23499	broad.mit.edu	37	1	39851472	39851472	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:39851472G>A	uc010oiu.1	+	21	9666	c.9535G>A	c.(9535-9537)GAG>AAG	p.E3179K	MACF1_uc010ois.1_Missense_Mutation_p.E2677K|MACF1_uc001cda.1_Missense_Mutation_p.E2564K|MACF1_uc001cdc.1_Missense_Mutation_p.E1743K	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4744					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTTAGACCACGAGGTTAAGGA	0.502000												
PTCH2	8643	broad.mit.edu	37	1	45292608	45292608	+	Silent	SNP	G	G	A	rs149815763	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:45292608G>A	uc010olf.1	-	17	2673	c.2661C>T	c.(2659-2661)CAC>CAT	p.H887H	PTCH2_uc010olg.1_Silent_p.H585H	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	887	Extracellular (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					CGTATTTGTCGTGCAGCCATT	0.632000									Basal_Cell_Nevus_syndrome			
TNNI3K	51086	broad.mit.edu	37	1	74957799	74957799	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:74957799A>C	uc001dgf.1	+	23	2251	c.2200A>C	c.(2200-2202)AGT>CGT	p.S734R	TNNI3K_uc001dge.1_Missense_Mutation_p.S835R	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	734	Poly-Ser.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						TCCTGCATCAAGTAACAGCAG	0.453000												
LRRC8C	84230	broad.mit.edu	37	1	90178606	90178606	+	Silent	SNP	C	C	A	rs34247046	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:90178606C>A	uc001dnl.3	+	3	719	c.477C>A	c.(475-477)ATC>ATA	p.I159I		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	159						endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AACATTTCATCTCCATTCTGG	0.448000												
LRRC8D	55144	broad.mit.edu	37	1	90400677	90400677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:90400677C>T	uc001dnm.2	+	3	2475	c.2050C>T	c.(2050-2052)CGA>TGA	p.R684*	LRRC8D_uc001dnn.2_Nonsense_Mutation_p.R684*	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	684	LRR 8.					integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCATTTAAAACGACTGACTTG	0.343000												
TGFBR3	7049	broad.mit.edu	37	1	92177810	92177810	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:92177810T>C	uc001doh.2	-	13	2622	c.2156A>G	c.(2155-2157)AAG>AGG	p.K719R	TGFBR3_uc009wde.2_Missense_Mutation_p.K414R|TGFBR3_uc010osy.1_Missense_Mutation_p.K677R|TGFBR3_uc001doi.2_Missense_Mutation_p.K718R|TGFBR3_uc001doj.2_Missense_Mutation_p.K718R	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	719	ZP.|Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTTAGGCAACTTCTGGGGGTG	0.468000												
RPAP2	79871	broad.mit.edu	37	1	92846337	92846337	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:92846337G>A	uc001dot.2	+	12	1854	c.1745G>A	c.(1744-1746)CGG>CAG	p.R582Q	RPAP2_uc009wdh.2_RNA	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	582						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		GTGTTTACACGGTTTCTAGAC	0.363000												
HIST2H3D	653604	broad.mit.edu	37	1	149785231	149785231	+	Silent	SNP	G	G	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:149785231G>C	uc010pbl.1	-	1	6	c.6C>G	c.(4-6)GCC>GCG	p.A2A	HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN	histone cluster 2, H3d	2					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding				0						GCTTAGTACGGGCCATGCTGT	0.567000												
POGZ	23126	broad.mit.edu	37	1	151378718	151378718	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:151378718C>T	uc001eyd.1	-	19	3099	c.2793G>A	c.(2791-2793)CCG>CCA	p.P931P	POGZ_uc001eye.1_Silent_p.P878P|POGZ_uc010pdb.1_Silent_p.P922P|POGZ_uc001eyf.1_Silent_p.P887P|POGZ_uc010pdc.1_Silent_p.P869P|POGZ_uc009wmv.1_Silent_p.P836P|POGZ_uc010pdd.1_Silent_p.P422P	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	931	Pro-rich.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGTAGCCAGCGGTGGAAGGG	0.572000												
INTS3	65123	broad.mit.edu	37	1	153745683	153745683	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:153745683G>A	uc009wom.2	+	31	3287	c.3066G>A	c.(3064-3066)ACG>ACA	p.T1022T	INTS3_uc001fct.2_Silent_p.T1022T|INTS3_uc001fcu.2_Silent_p.T714T|INTS3_uc001fcv.2_Silent_p.T816T|INTS3_uc010peb.1_Silent_p.T882T|INTS3_uc001fcw.2_Silent_p.T535T|INTS3_uc010pec.1_Silent_p.T535T|INTS3_uc001fcy.2_Silent_p.T385T|INTS3_uc001fcx.2_Silent_p.T319T	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	1023					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	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)			AGGAAGACACGAAACCGAAGC	0.602000												
SEMA4A	64218	broad.mit.edu	37	1	156132886	156132886	+	Splice_Site	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:156132886G>A	uc001fnl.2	+	10	1238	c.1134_splice	c.e10+1	p.S378_splice	SEMA4A_uc009wrq.2_Splice_Site_p.S378_splice|SEMA4A_uc001fnm.2_Splice_Site_p.S378_splice|SEMA4A_uc001fnn.2_Splice_Site_p.S246_splice|SEMA4A_uc001fno.2_Splice_Site_p.S378_splice	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor						axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					GCCAGGCAGTGTGAGTACTAC	0.453000												
TMEM79	84283	broad.mit.edu	37	1	156255196	156255196	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:156255196A>G	uc010phi.1	+	2	375	c.179A>G	c.(178-180)GAG>GGG	p.E60G	SMG5_uc001foc.3_5'Flank|TMEM79_uc001fod.2_Intron|TMEM79_uc009wrw.2_Missense_Mutation_p.E60G	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	60						integral to membrane				central_nervous_system(1)	1	Hepatocellular(266;0.158)					ACAGCCATAGAGGGGGCTGAG	0.652000												
FCRL2	79368	broad.mit.edu	37	1	157740399	157740399	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:157740399T>G	uc001fre.2	-	3	169	c.110A>C	c.(109-111)AAA>ACA	p.K37T	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.K37T|FCRL2_uc009wsp.2_Missense_Mutation_p.K37T|FCRL2_uc010pia.1_Missense_Mutation_p.K37T	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	37	Ig-like C2-type 1.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCCTGGCATTTCAGAACGAT	0.438000												
FCRL6	343413	broad.mit.edu	37	1	159779472	159779472	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:159779472G>T	uc001fud.3	+	5	927	c.885G>T	c.(883-885)AAG>AAT	p.K295N	FCRL6_uc001fuc.2_Missense_Mutation_p.K302N|FCRL6_uc009wsz.1_Missense_Mutation_p.K200N|FCRL6_uc009wta.2_Missense_Mutation_p.K295N	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	295	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)					TGTCTCTGAAGGGTGTGTTTT	0.552000												
SELE	6401	broad.mit.edu	37	1	169696647	169696647	+	Silent	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:169696647C>A	uc001ggm.3	-	10	1645	c.1488G>T	c.(1486-1488)CTG>CTT	p.L496L	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	496	Extracellular (Potential).|Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)					CCGGAACTGCCAGGCTTGAAC	0.468000												
CACNA1E	777	broad.mit.edu	37	1	181727101	181727101	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:181727101G>A	uc001gow.2	+	31	4513	c.4348G>A	c.(4348-4350)GCC>ACC	p.A1450T	CACNA1E_uc009wxs.2_Missense_Mutation_p.A1338T|CACNA1E_uc001gox.1_Missense_Mutation_p.A676T|CACNA1E_uc009wxt.2_Missense_Mutation_p.A676T	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1450	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CATCGACTTCGCCATCAGCGC	0.527000												
PRELP	5549	broad.mit.edu	37	1	203455927	203455927	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:203455927G>A	uc001gzs.2	+	3	1267	c.1067G>A	c.(1066-1068)CGG>CAG	p.R356Q	PRELP_uc001gzt.2_Missense_Mutation_p.R356Q	NM_002725	NP_002716	P51888	PRELP_HUMAN	proline arginine-rich end leucine-rich repeat	356	LRR 11.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(1)|central_nervous_system(1)|pancreas(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGCTACCTGCGGCTGGATGGA	0.597000												
KIF26B	55083	broad.mit.edu	37	1	245704126	245704126	+	Silent	SNP	T	T	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:245704126T>G	uc001ibf.1	+	5	1664	c.1224T>G	c.(1222-1224)TCT>TCG	p.S408S	KIF26B_uc010pyq.1_Silent_p.S408S|KIF26B_uc001ibg.1_Silent_p.S26S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	408					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTTCCACTTCTTCCGCTGCCG	0.522000												
OR2W3	343171	broad.mit.edu	37	1	248059005	248059005	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:248059005C>T	uc001idp.1	+	3	386	c.117C>T	c.(115-117)CTC>CTT	p.L39L	OR2W3_uc010pzb.1_Silent_p.L39L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCTGACCCTCGTAGGCAACA	0.577000												
OR2L13	284521	broad.mit.edu	37	1	248263219	248263219	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:248263219C>A	uc001ids.2	+	3	879	c.542C>A	c.(541-543)CCA>CAA	p.P181Q		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGCGATGTCCCAGCCATGTTG	0.458000												
OR2T3	343173	broad.mit.edu	37	1	248637256	248637256	+	Missense_Mutation	SNP	C	C	T	rs79885009	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:248637256C>T	uc001iel.1	+	1	605	c.605C>T	c.(604-606)ACG>ATG	p.T202M		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTATAAGACGCTCATGTAC	0.507000												
MKX	283078	broad.mit.edu	37	10	28023608	28023608	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:28023608C>A	uc001ity.3	-	5	840	c.615G>T	c.(613-615)GAG>GAT	p.E205D	MKX_uc001itx.3_Missense_Mutation_p.E205D	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	205					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGGCCCGTGACTCTGGCCTCA	0.502000												
EPC1	80314	broad.mit.edu	37	10	32576130	32576130	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:32576130C>T	uc001iwg.1	-	7	1318	c.1048G>A	c.(1048-1050)GCT>ACT	p.A350T	EPC1_uc001iwi.3_Missense_Mutation_p.A300T|EPC1_uc009xlt.2_Missense_Mutation_p.A300T|EPC1_uc001iwh.1_Missense_Mutation_p.A350T	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	350					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)				GGAGTAGCAGCGGCAGACGAT	0.453000												
ARID5B	84159	broad.mit.edu	37	10	63851485	63851485	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:63851485G>A	uc001jlt.1	+	10	2289	c.2263G>A	c.(2263-2265)GTC>ATC	p.V755I		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	755					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					GATTCAGCACGTCCAGAGTTT	0.512000												
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:89717672C>T	uc001kfb.2	+	8	1728	c.697C>T	c.(697-699)CGA>TGA	p.R233*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423000	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
DNTT	1791	broad.mit.edu	37	10	98079101	98079101	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:98079101C>T	uc001kmf.2	+	3	631	c.461C>T	c.(460-462)GCG>GTG	p.A154V	DNTT_uc001kmg.2_Missense_Mutation_p.A154V	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	154	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TCCCAGTATGCGTGTCAGAGA	0.463000												
EXOSC1	51013	broad.mit.edu	37	10	99196230	99196230	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:99196230C>T	uc001kni.2	-	8	586	c.560G>A	c.(559-561)CGA>CAA	p.R187Q	EXOSC1_uc009xvp.1_RNA	NM_016046	NP_057130	Q9Y3B2	EXOS1_HUMAN	exosomal core protein CSL4	187					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding				0		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		GGGTTGTACTCGGGCTACTTT	0.483000												
C10orf90	118611	broad.mit.edu	37	10	128149986	128149986	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:128149986C>G	uc001ljq.2	-	5	1824	c.1703G>C	c.(1702-1704)AGA>ACA	p.R568T	C10orf90_uc001ljp.2_Missense_Mutation_p.R424T|C10orf90_uc010qum.1_Missense_Mutation_p.R665T|C10orf90_uc001ljo.2_RNA	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	568										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GGTCAAAGATCTTGCAGGCGT	0.587000												
KNDC1	85442	broad.mit.edu	37	10	135011860	135011860	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:135011860C>T	uc001llz.1	+	13	1927	c.1926C>T	c.(1924-1926)AGC>AGT	p.S642S	KNDC1_uc001lma.1_Silent_p.S577S|KNDC1_uc001lmb.1_Silent_p.S54S	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	642					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGGTGAACAGCGACACCGGGC	0.726000												
CDHR5	53841	broad.mit.edu	37	11	619478	619478	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:619478G>A	uc001lqj.2	-	11	1394	c.1289C>T	c.(1288-1290)GCA>GTA	p.A430V	CDHR5_uc001lqk.2_Missense_Mutation_p.A430V|CDHR5_uc009ycc.2_Missense_Mutation_p.A264V|CDHR5_uc009ycd.2_Missense_Mutation_p.A430V|CDHR5_uc001lql.2_Missense_Mutation_p.A430V|CDHR5_uc001lqm.2_Missense_Mutation_p.A264V|CDHR5_uc009yce.1_Missense_Mutation_p.A399V	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	430	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						CCGCACCTCTGCGTAGAAGGC	0.607000												
TRPM5	29850	broad.mit.edu	37	11	2432908	2432908	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:2432908A>T	uc001lwm.3	-	17	2573	c.2564T>A	c.(2563-2565)ATA>AAA	p.I855K	TRPM5_uc010qxl.1_Missense_Mutation_p.I855K|TRPM5_uc009ydn.2_Missense_Mutation_p.I857K	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel,	855	Helical; (Potential).					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTGCTTGTGTATGGCAAAGAT	0.642000												
OR51E1	143503	broad.mit.edu	37	11	4674130	4674130	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:4674130G>A	uc001lzi.3	+	2	518	c.374G>A	c.(373-375)CGC>CAC	p.R125H		NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTTTGACCGCTATGTGGCC	0.547000												
OR52A4	390053	broad.mit.edu	37	11	5142343	5142343	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:5142343G>A	uc001lzz.1	-	1	466	c.466C>T	c.(466-468)CCT>TCT	p.P156S		NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGAATGGCAGGCCGCAATGTC	0.463000												
OR52L1	338751	broad.mit.edu	37	11	6008025	6008025	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:6008025C>A	uc001mcd.2	-	1	191	c.136G>T	c.(136-138)GCA>TCA	p.A46S		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGGCAGTGCAATCCAGTGC	0.488000												
NRIP3	56675	broad.mit.edu	37	11	9007342	9007342	+	Missense_Mutation	SNP	G	G	A	rs61756060	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:9007342G>A	uc001mhg.2	-	4	592	c.478C>T	c.(478-480)CGG>TGG	p.R160W	NRIP3_uc010rbu.1_Intron	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	160					proteolysis		aspartic-type endopeptidase activity				0				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		TTGAGATGCCGGGGTAGAGAA	0.512000												
SCUBE2	57758	broad.mit.edu	37	11	9082038	9082038	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:9082038C>T	uc001mhh.1	-	8	964	c.884G>A	c.(883-885)CGC>CAC	p.R295H	SCUBE2_uc001mhi.1_Missense_Mutation_p.R295H|SCUBE2_uc001mhj.1_Missense_Mutation_p.R295H	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	295	EGF-like 6 (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CTTACAGGTGCGGTCACAGCC	0.498000												
AMPD3	272	broad.mit.edu	37	11	10526171	10526171	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:10526171A>G	uc001mio.1	+	14	2427	c.2092A>G	c.(2092-2094)AGG>GGG	p.R698G	AMPD3_uc010rbz.1_Missense_Mutation_p.R539G|AMPD3_uc001min.1_Missense_Mutation_p.R707G|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.R705G|AMPD3_uc009yfy.2_Missense_Mutation_p.R698G	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	698					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)		TGAGATCGCCAGGAACAGCGT	0.512000												
SOX6	55553	broad.mit.edu	37	11	16007846	16007846	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:16007846C>T	uc001mme.2	-	15	2159	c.2126G>A	c.(2125-2127)CGC>CAC	p.R709H	SOX6_uc001mmd.2_Missense_Mutation_p.R672H|SOX6_uc001mmf.2_Missense_Mutation_p.R669H|SOX6_uc001mmg.2_Missense_Mutation_p.R676H	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	696					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						AATGCAGGTGCGTTTCGGTCG	0.473000												
UEVLD	55293	broad.mit.edu	37	11	18579822	18579822	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:18579822G>A	uc001mot.2	-	7	748	c.668C>T	c.(667-669)ACG>ATG	p.T223M	UEVLD_uc001mou.2_Missense_Mutation_p.T223M|UEVLD_uc010rde.1_Missense_Mutation_p.T93M|UEVLD_uc010rdf.1_Missense_Mutation_p.T201M|UEVLD_uc010rdg.1_Missense_Mutation_p.T93M|UEVLD_uc001mov.2_Missense_Mutation_p.T201M	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	ubiquitin-conjugating enzyme E2-like isoform a	223					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor				0						AAGGTCCATCGTGGCTCCTTT	0.408000												
SPTY2D1	144108	broad.mit.edu	37	11	18636447	18636447	+	Silent	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:18636447G>T	uc001moy.2	-	3	1590	c.1374C>A	c.(1372-1374)CCC>CCA	p.P458P	SPTY2D1_uc010rdi.1_Silent_p.P458P	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	458	Ser-rich.									breast(1)	1						AGCTGCCCAAGGGTCTTGCAG	0.637000												
HTATIP2	10553	broad.mit.edu	37	11	20398124	20398124	+	Splice_Site	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:20398124A>G	uc009yia.1	+	4	370	c.304_splice	c.e4-2	p.E102_splice	HTATIP2_uc009yib.1_Splice_Site_p.E102_splice|HTATIP2_uc001mpx.2_Splice_Site_p.E136_splice|HTATIP2_uc001mpz.2_Splice_Site_p.E102_splice	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa isoform						angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity				0						TTTCCCCCTTAGGAGGGATTT	0.458000												
KCNA4	3739	broad.mit.edu	37	11	30033696	30033696	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:30033696C>A	uc001msk.2	-	2	1682	c.530G>T	c.(529-531)CGT>CTT	p.R177L		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	177						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TATCACCACACGTTCACAACA	0.517000												
LMO2	4005	broad.mit.edu	37	11	33880991	33880991	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:33880991A>C	uc001mve.2	-	3	827	c.388T>G	c.(388-390)TGT>GGT	p.C130G	LMO2_uc001mvc.2_Missense_Mutation_p.C123G|LMO2_uc001mvd.2_Missense_Mutation_p.C123G|LMO2_uc010rel.1_Missense_Mutation_p.C130G|LMO2_uc010rem.1_Missense_Mutation_p.C199G	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	LIM domain only 2 isoform 2	130	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			lung(1)	1						TCACCTACACAGAAATGCTTC	0.483000			T	TRD@	T-ALL							
EXT2	2132	broad.mit.edu	37	11	44129759	44129759	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:44129759G>A	uc001mxz.2	+	2	831	c.497G>A	c.(496-498)CGC>CAC	p.R166H	EXT2_uc010rfo.1_Missense_Mutation_p.R194H|EXT2_uc001mxy.2_Missense_Mutation_p.R179H|EXT2_uc009ykt.2_Missense_Mutation_p.R166H|EXT2_uc001mya.2_Missense_Mutation_p.R199H	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	166	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						AACACACTGCGCATCAAGGAG	0.532000			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses			
CHST1	8534	broad.mit.edu	37	11	45672345	45672345	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:45672345G>A	uc001mys.1	-	4	800	c.129C>T	c.(127-129)GCC>GCT	p.A43A		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	43	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ACAGTCGCTCGGCCAGCCCGG	0.662000												
FOLH1	2346	broad.mit.edu	37	11	49208318	49208318	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:49208318C>T	uc001ngy.2	-	5	778	c.517G>A	c.(517-519)GAT>AAT	p.D173N	FOLH1_uc001ngz.2_Missense_Mutation_p.D173N|FOLH1_uc009yly.2_Missense_Mutation_p.D158N|FOLH1_uc009ylz.2_Missense_Mutation_p.D158N|FOLH1_uc009yma.2_5'UTR	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	173	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TACACTAGATCGCCCTGTTGA	0.393000												
OR5M3	219482	broad.mit.edu	37	11	56237824	56237824	+	Silent	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:56237824A>G	uc010rjk.1	-	1	150	c.150T>C	c.(148-150)AGT>AGC	p.S50S		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	50	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TAAGCTGAGGACTGACCTTGA	0.433000												
MEN1	4221	broad.mit.edu	37	11	64572229	64572229	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:64572229C>T	uc001obj.2	-	10	1498	c.1425G>A	c.(1423-1425)CCG>CCA	p.P475P	MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Silent_p.P475P|MEN1_uc001obl.2_Silent_p.P435P|MEN1_uc001obm.2_Silent_p.P470P|MEN1_uc001obn.2_Silent_p.P475P|MEN1_uc001obo.2_Silent_p.P475P|MEN1_uc001obp.2_Silent_p.P470P|MEN1_uc001obq.2_Silent_p.P475P|MEN1_uc001obr.2_Silent_p.P475P	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	475					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						CCTCGCCCCACGGCTCCTCGG	0.731000			D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1			
MYO7A	4647	broad.mit.edu	37	11	76900480	76900480	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:76900480G>A	uc001oyb.2	+	28	3867	c.3595G>A	c.(3595-3597)GTG>ATG	p.V1199M	MYO7A_uc010rsm.1_Missense_Mutation_p.V1188M|MYO7A_uc001oyc.2_Missense_Mutation_p.V1199M|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.V410M	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1199	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						GTCTCTCTGCGTGGGCTGTTT	0.622000												
PDGFD	80310	broad.mit.edu	37	11	103866942	103866942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:103866942C>A	uc001phq.2	-	3	733	c.361G>T	c.(361-363)GAA>TAA	p.E121*	PDGFD_uc001php.2_Nonsense_Mutation_p.E115*	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	121	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTACTGGTTTCGGATATATCT	0.343000												
DDI1	414301	broad.mit.edu	37	11	103908214	103908214	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:103908214A>T	uc001phr.2	+	1	907	c.664A>T	c.(664-666)AAC>TAC	p.N222Y	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	222					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCGGCAGCAAAACATTGAAGA	0.478000												
ANKK1	255239	broad.mit.edu	37	11	113268051	113268051	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:113268051G>A	uc001pny.2	+	6	1038	c.944G>A	c.(943-945)CGC>CAC	p.R315H		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	315							ATP binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|ovary(1)|breast(1)	8		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CTGTCGCTGCGCCAGCCCGGG	0.607000												
BACE1	23621	broad.mit.edu	37	11	117161234	117161234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:117161234G>A	uc001pqz.2	-	8	1695	c.1234C>T	c.(1234-1236)CGA>TGA	p.R412*	BACE1_uc001pqw.2_Nonsense_Mutation_p.R387*|BACE1_uc001pqx.2_Nonsense_Mutation_p.R343*|BACE1_uc001pqy.2_Nonsense_Mutation_p.R368*|BACE1_uc010rxg.1_Nonsense_Mutation_p.R287*|BACE1_uc010rxh.1_Nonsense_Mutation_p.R312*|BACE1_uc009yzo.1_Silent_p.N79N|uc010rxi.1_5'Flank	NM_012104	NP_036236	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1 isoform A	412	Extracellular (Potential).				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			ovary(1)	1	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		AAGCCAATTCGTTTTCGGGCC	0.498000												
IL10RA	3587	broad.mit.edu	37	11	117860290	117860290	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:117860290C>A	uc001prv.2	+	3	399	c.322C>A	c.(322-324)CAC>AAC	p.H108N	IL10RA_uc010rxl.1_Missense_Mutation_p.H88N|IL10RA_uc010rxm.1_Missense_Mutation_p.H88N|IL10RA_uc010rxn.1_Intron|IL10RA_uc001prw.2_5'UTR	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	108	Extracellular (Potential).					integral to membrane|plasma membrane	interleukin-10 receptor activity			ovary(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CGGCAGCCGGCACTCCAACTG	0.582000												
ROBO3	64221	broad.mit.edu	37	11	124747173	124747173	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:124747173G>A	uc001qbc.2	+	19	3006	c.2814G>A	c.(2812-2814)CCG>CCA	p.P938P	ROBO3_uc010saq.1_5'UTR|ROBO3_uc001qbd.2_5'UTR|ROBO3_uc010sar.1_Intron|ROBO3_uc001qbe.2_Intron|ROBO3_uc001qbf.1_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	938	Cytoplasmic (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGTCCTTCCCGCACTCAGAGG	0.612000												
C1S	716	broad.mit.edu	37	12	7177276	7177276	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:7177276C>T	uc001qsj.2	+	15	2107	c.1388C>T	c.(1387-1389)GCG>GTG	p.A463V	C1S_uc001qsk.2_Missense_Mutation_p.A463V|C1S_uc001qsl.2_Missense_Mutation_p.A463V|C1S_uc009zfr.2_Missense_Mutation_p.A296V|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	463	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GCTGGTGGAGCGCTCATTAAT	0.498000												
CD163	9332	broad.mit.edu	37	12	7640606	7640606	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:7640606C>T	uc001qsz.3	-	7	1626	c.1498G>A	c.(1498-1500)GGC>AGC	p.G500S	CD163_uc001qta.3_Missense_Mutation_p.G500S|CD163_uc009zfw.2_Missense_Mutation_p.G500S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	500	SRCR 5.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						CAGATGGAGCCCCACGTGTCA	0.507000												
FAM90A1	55138	broad.mit.edu	37	12	8374624	8374624	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:8374624G>A	uc001qui.2	-	7	1748	c.1189C>T	c.(1189-1191)CGG>TGG	p.R397W	FAM90A1_uc001quh.2_Missense_Mutation_p.R397W	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	397							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		TCCAGTCTCCGAAAGAGCACT	0.632000												
FGD4	121512	broad.mit.edu	37	12	32755181	32755181	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:32755181A>G	uc001rkz.2	+	7	1400	c.923A>G	c.(922-924)AAT>AGT	p.N308S	FGD4_uc001rlc.2_Missense_Mutation_p.N393S|FGD4_uc001rky.2_Missense_Mutation_p.N60S|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.N420S|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	308	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GGATTTGATAATGCAATGGAA	0.353000												
SYT10	341359	broad.mit.edu	37	12	33529822	33529822	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:33529822C>T	uc001rll.1	-	7	1812	c.1515G>A	c.(1513-1515)GCG>GCA	p.A505A	SYT10_uc009zju.1_Silent_p.A315A	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	505	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CAAAACTGGTCGCCCGGCCAG	0.403000												
ALG10B	144245	broad.mit.edu	37	12	38714359	38714359	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:38714359C>T	uc001rln.3	+	3	905	c.766C>T	c.(766-768)CCC>TCC	p.P256S	ALG10B_uc001rlo.3_Missense_Mutation_p.P226S|ALG10B_uc010skk.1_Missense_Mutation_p.P196S	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	256	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|skin(1)	3	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTTGACTTGGCCCTACATCCT	0.368000												
KRT81	3887	broad.mit.edu	37	12	52681893	52681893	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:52681893C>T	uc001sab.2	-	5	825	c.775G>A	c.(775-777)GTG>ATG	p.V259M	KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	keratin, hair, basic, 1	259	Linker 12.|Rod.					keratin filament	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGACAACCACGGAGGTGTCT	0.557000												
KRT84	3890	broad.mit.edu	37	12	52776281	52776281	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:52776281G>A	uc001sah.1	-	4	900	c.852C>T	c.(850-852)CTC>CTT	p.L284L		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	284	Rod.|Coil 1B.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGTTGGCCTCGAGATCAGACT	0.458000												
IRAK3	11213	broad.mit.edu	37	12	66641720	66641720	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:66641720C>T	uc001sth.2	+	12	1662	c.1560C>T	c.(1558-1560)GAC>GAT	p.D520D	IRAK3_uc010ssy.1_Silent_p.D459D	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	520					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		TGAGCTTGGACAAAAAGCCAG	0.428000												
TMCC3	57458	broad.mit.edu	37	12	94976111	94976111	+	Silent	SNP	C	C	T	rs140629808	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:94976111C>T	uc001tdj.2	-	2	400	c.282G>A	c.(280-282)GCG>GCA	p.A94A	TMCC3_uc001tdi.2_Silent_p.A63A	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	94						integral to membrane				ovary(1)|skin(1)	2						TCAGATACTCCGCAACATTCC	0.458000												
UTP20	27340	broad.mit.edu	37	12	101720872	101720872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:101720872C>T	uc001tia.1	+	26	3211	c.3055C>T	c.(3055-3057)CGA>TGA	p.R1019*		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1019					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						TTTGTATGGGCGAATGAAGAA	0.433000												
CCDC60	160777	broad.mit.edu	37	12	119954458	119954458	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:119954458A>G	uc001txe.2	+	8	1379	c.914A>G	c.(913-915)GAA>GGA	p.E305G	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	305										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATGGTTCGGGAAGATGCCCGG	0.493000												
CLIP1	6249	broad.mit.edu	37	12	122825399	122825399	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:122825399G>A	uc001ucg.1	-	10	2458	c.2352C>T	c.(2350-2352)TCC>TCT	p.S784S	CLIP1_uc001uch.1_Silent_p.S773S|CLIP1_uc001uci.1_Silent_p.S738S|CLIP1_uc001ucj.1_Intron	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	784	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTACCTTCGGAACTGGCTT	0.388000												
ATP6V0A2	23545	broad.mit.edu	37	12	124209219	124209219	+	Missense_Mutation	SNP	G	G	A	rs146676679		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:124209219G>A	uc001ufr.2	+	4	561	c.313G>A	c.(313-315)GAG>AAG	p.E105K	ATP6V0A2_uc001ufq.1_Missense_Mutation_p.E105K	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	105	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GCAGAAGCTCGAGGTTGAACT	0.388000												
P2RX2	22953	broad.mit.edu	37	12	133196038	133196038	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:133196038G>A	uc001ukj.1	+	2	187	c.187G>A	c.(187-189)GTG>ATG	p.V63M	P2RX2_uc001uki.1_Missense_Mutation_p.V63M|P2RX2_uc001ukk.1_Missense_Mutation_p.V63M|P2RX2_uc001ukl.1_Missense_Mutation_p.V63M|P2RX2_uc001ukm.1_Missense_Mutation_p.R40H|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Missense_Mutation_p.V63M|P2RX2_uc001uko.1_Missense_Mutation_p.V63M	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	63	Helical; Name=1; (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CGTATTCATCGTGCAGAAAAG	0.677000												
POLE	5426	broad.mit.edu	37	12	133237570	133237570	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr12:133237570G>A	uc001uks.1	-	25	3089	c.3045C>T	c.(3043-3045)GAC>GAT	p.D1015D	POLE_uc001ukr.1_5'Flank|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.D988D	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1015					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGTACAGCACGTCCAGCCAGT	0.567000								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
DCLK1	9201	broad.mit.edu	37	13	36686031	36686031	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr13:36686031C>T	uc001uvf.2	-	3	931	c.698G>A	c.(697-699)CGC>CAC	p.R233H		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	233	Doublecortin 2.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CGTGTACAGGCGTTTCACCAC	0.502000												
PCDH9	5101	broad.mit.edu	37	13	67801710	67801710	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr13:67801710C>T	uc001vik.2	-	2	1555	c.863G>A	c.(862-864)CGG>CAG	p.R288Q	PCDH9_uc001vil.2_Missense_Mutation_p.R288Q|PCDH9_uc010thl.1_Missense_Mutation_p.R288Q|PCDH9_uc001vin.3_Missense_Mutation_p.R288Q	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	288	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)		AAAAATGTACCGGATTTCAGC	0.463000												
NALCN	259232	broad.mit.edu	37	13	101712255	101712255	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr13:101712255C>T	uc001vox.1	-	42	5009	c.4820G>A	c.(4819-4821)CGG>CAG	p.R1607Q		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1607	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTTCAGAAACCGGCTCAGCTC	0.532000												
COL4A2	1284	broad.mit.edu	37	13	111082904	111082904	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr13:111082904C>T	uc001vqx.2	+	10	887	c.598C>T	c.(598-600)CGC>TGC	p.R200C		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	200	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			ACCTCCCGGCCGCCCTGGGCA	0.537000												
OR4K5	79317	broad.mit.edu	37	14	20389116	20389116	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:20389116G>A	uc010tkw.1	+	1	351	c.351G>A	c.(349-351)TCG>TCA	p.S117S		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTTGTTTCGATGGCCTATG	0.448000												
OR11H4	390442	broad.mit.edu	37	14	20711877	20711877	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:20711877C>T	uc010tld.1	+	1	927	c.927C>T	c.(925-927)CTC>CTT	p.L309L		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	309	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ACATGAAACTCGCTCTGAGAA	0.393000												
FLJ10357	55701	broad.mit.edu	37	14	21549161	21549161	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:21549161C>T	uc001vzp.2	+	13	2655	c.2626C>T	c.(2626-2628)CGC>TGC	p.R876C	FLJ10357_uc001vzo.1_5'UTR|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.R162C	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	876					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		GCGGCTACAGCGCTTCTTCCA	0.537000												
RPGRIP1	57096	broad.mit.edu	37	14	21793997	21793997	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:21793997C>T	uc001wag.2	+	16	2375	c.2375C>T	c.(2374-2376)TCG>TTG	p.S792L	RPGRIP1_uc001wah.2_Missense_Mutation_p.S434L|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001wak.2_Missense_Mutation_p.S267L|RPGRIP1_uc010aim.2_Missense_Mutation_p.S175L|RPGRIP1_uc001wal.2_Missense_Mutation_p.S151L|RPGRIP1_uc001wam.2_Missense_Mutation_p.S109L	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	792					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGTTCAGATCGGAGTCTTGG	0.507000												
SLC22A17	51310	broad.mit.edu	37	14	23817839	23817839	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:23817839G>T	uc001wjl.2	-	4	624	c.568C>A	c.(568-570)CTG>ATG	p.L190M	SLC22A17_uc010akk.2_Intron|SLC22A17_uc001wjn.2_Intron|SLC22A17_uc001wjm.2_Missense_Mutation_p.L190M|SLC22A17_uc010akl.1_3'UTR	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a	190	Helical; (Potential).				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity				0	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCCCCTGCCAGGGCCACCCGA	0.512000												
ARHGAP5	394	broad.mit.edu	37	14	32561828	32561828	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:32561828C>T	uc001wrl.2	+	2	2192	c.1953C>T	c.(1951-1953)GCC>GCT	p.A651A	ARHGAP5_uc001wrm.2_Silent_p.A651A|ARHGAP5_uc001wrn.2_Silent_p.A651A|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	651					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATGGACTGCCGCCTTTAAAC	0.393000												
SNX6	58533	broad.mit.edu	37	14	35037121	35037121	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:35037121G>A	uc001wsf.1	-	12	1064	c.1056C>T	c.(1054-1056)GCC>GCT	p.A352A	SNX6_uc001wse.1_Silent_p.A224A|SNX6_uc010tpm.1_Silent_p.A228A|SNX6_uc010amm.1_Silent_p.A228A	NM_152233	NP_689419	Q9UNH7	SNX6_HUMAN	sorting nexin 6 isoform b	340					cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity				0	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		GGGAAGTTTCGGCCTGTAGAA	0.348000												
C14orf101	54916	broad.mit.edu	37	14	57070685	57070685	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:57070685C>T	uc001xcm.2	+	4	619	c.497C>T	c.(496-498)GCA>GTA	p.A166V	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Missense_Mutation_p.A166V|C14orf101_uc010aot.1_Missense_Mutation_p.A166V|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Intron	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	166						integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		TTTGAGGAAGCAGCAACTGCT	0.373000												
RDH11	51109	broad.mit.edu	37	14	68151905	68151905	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:68151905C>T	uc001xjv.3	-	6	771	c.681G>A	c.(679-681)ACG>ACA	p.T227T	RDH11_uc001xjw.3_Silent_p.T214T|RDH11_uc001xjx.3_Silent_p.T157T	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11	227	Cytoplasmic (Potential).				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GTACAGAATACGTCGTAACGC	0.468000												
HERC2	8924	broad.mit.edu	37	15	28441687	28441687	+	Silent	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:28441687A>G	uc001zbj.2	-	51	8146	c.8040T>C	c.(8038-8040)ATT>ATC	p.I2680I	HERC2_uc001zbk.1_Silent_p.I215I	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2680					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)		GAAAGTCGACAATGATATCTT	0.428000												
MTMR15	22909	broad.mit.edu	37	15	31197648	31197648	+	Missense_Mutation	SNP	C	C	T	rs137920161		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:31197648C>T	uc001zff.2	+	2	1073	c.782C>T	c.(781-783)GCG>GTG	p.A261V	MTMR15_uc001zfc.3_Missense_Mutation_p.A261V|MTMR15_uc010azw.2_Missense_Mutation_p.A261V|MTMR15_uc001zfd.3_Missense_Mutation_p.A261V|MTMR15_uc001zfe.2_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	261					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		TCAGATAATGCGATCATGTTA	0.403000								Direct_reversal_of_damage|Editing_and_processing_nucleases				
SPTBN5	51332	broad.mit.edu	37	15	42145505	42145505	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:42145505C>T	uc001zos.2	-	59	10349	c.10016G>A	c.(10015-10017)CGG>CAG	p.R3339Q		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3374	Spectrin 30.				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)		TCCTTCCTGCCGCAGGTCCTG	0.627000												
SEMA6D	80031	broad.mit.edu	37	15	48059278	48059278	+	Missense_Mutation	SNP	G	G	A	rs150769593		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:48059278G>A	uc010bek.2	+	17	2113	c.1753G>A	c.(1753-1755)GGT>AGT	p.G585S	SEMA6D_uc001zvw.2_Intron|SEMA6D_uc001zvy.2_Missense_Mutation_p.G585S|SEMA6D_uc001zvz.2_Missense_Mutation_p.G585S|SEMA6D_uc001zwa.2_Intron|SEMA6D_uc001zwb.2_Intron|SEMA6D_uc001zwc.2_Intron	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	585	Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AATATTTGGCGGTCCAACATC	0.338000												
CCPG1	9236	broad.mit.edu	37	15	55724733	55724733	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:55724733C>T	uc002acy.2	-	8	1370	c.-47G>A	c.(-49--45)ACGTG>ACATG		DYX1C1_uc010ugh.1_Intron|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Intron|DYX1C1_uc002adc.2_Missense_Mutation_p.R372H|DYX1C1_uc002add.2_Intron	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2						cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		TGCTGTTCCACGTCGTACATG	0.338000												
ITGA11	22801	broad.mit.edu	37	15	68649512	68649512	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:68649512C>T	uc002ari.2	-	7	813	c.726G>A	c.(724-726)ACG>ACA	p.T242T	ITGA11_uc010bib.2_Silent_p.T242T	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	242	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	TGCCAAATGCCGTCCGGGTCT	0.363000												
ISLR2	57611	broad.mit.edu	37	15	74425596	74425596	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:74425596C>T	uc002axd.2	+	4	1270	c.501C>T	c.(499-501)TTC>TTT	p.F167F	ISLR2_uc002axe.2_Silent_p.F167F|ISLR2_uc010bjg.2_Silent_p.F167F|ISLR2_uc010bjf.2_Silent_p.F167F	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	167	Extracellular (Potential).|LRR 5.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CTGGCACCTTCGACGCGCTTA	0.677000												
IL16	3603	broad.mit.edu	37	15	81592262	81592262	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:81592262G>A	uc002bgh.3	+	14	2971	c.2595G>A	c.(2593-2595)CAG>CAA	p.Q865Q	IL16_uc010blq.1_Silent_p.Q819Q|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.Q907Q|IL16_uc002bgg.2_Silent_p.Q865Q|IL16_uc002bgi.1_Silent_p.Q255Q|IL16_uc002bgj.2_Silent_p.Q359Q|IL16_uc002bgk.2_Silent_p.Q164Q|IL16_uc002bgl.1_Silent_p.Q164Q|IL16_uc010unq.1_Silent_p.Q164Q	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	865					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						TGAGCCTCCAGCCCTCCTCTG	0.522000												
ARRDC4	91947	broad.mit.edu	37	15	98514381	98514381	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:98514381C>T	uc010bom.2	+	8	1380	c.1221C>T	c.(1219-1221)GAC>GAT	p.D407D	ARRDC4_uc002bui.3_Silent_p.D320D	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	407					signal transduction						0	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			ATCCTAGCGACGTAGAAGAGA	0.378000												
ZNF205	7755	broad.mit.edu	37	16	3168941	3168941	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:3168941G>A	uc002cub.2	+	6	655	c.520G>A	c.(520-522)GCG>ACG	p.A174T	ZNF205_uc002cua.2_Missense_Mutation_p.A174T	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	174	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						GGCCCCTCAAGCGCACGGCAA	0.652000												
TFAP4	7023	broad.mit.edu	37	16	4312613	4312613	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:4312613C>T	uc010uxg.1	-	2	433	c.179G>A	c.(178-180)CGC>CAC	p.R60H		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	60	Basic motif.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						GCTCTGCATGCGTCTCCGCTC	0.622000												
C16orf68	79091	broad.mit.edu	37	16	8722947	8722947	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:8722947C>T	uc002cyz.2	+	3	770	c.494C>T	c.(493-495)CCG>CTG	p.P165L	C16orf68_uc002cza.2_Missense_Mutation_p.P109L	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	165							methyltransferase activity				0						CAAGGCAGCCCGCACGATATC	0.532000												
GRIN2A	2903	broad.mit.edu	37	16	9857287	9857287	+	Silent	SNP	T	T	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:9857287T>G	uc002czo.3	-	13	4662	c.4114A>C	c.(4114-4116)AGG>CGG	p.R1372R	GRIN2A_uc010uym.1_Silent_p.R1372R|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1372	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGTCATCCCTGTGGGAGTGG	0.542000												
CLEC16A	23274	broad.mit.edu	37	16	11260312	11260312	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:11260312C>T	uc002dao.2	+	23	2939	c.2709C>T	c.(2707-2709)TCC>TCT	p.S903S	CLEC16A_uc002dap.2_5'UTR	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	903	Ser-rich.									ovary(1)|central_nervous_system(1)	2						CGCCACCCTCCGCCAGCGGGA	0.657000												
LOC81691	81691	broad.mit.edu	37	16	20855996	20855996	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:20855996G>A	uc002dhv.2	+	17	2028	c.1765G>A	c.(1765-1767)GTG>ATG	p.V589M	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.V558M|LOC81691_uc002dhw.2_Missense_Mutation_p.V332M|LOC81691_uc002dhy.3_Missense_Mutation_p.V589M	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	589						nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2						TGACACCCTCGTGAATGAGCT	0.468000												
DNAH3	55567	broad.mit.edu	37	16	21042477	21042477	+	Missense_Mutation	SNP	G	G	A	rs142410393	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:21042477G>A	uc010vbe.1	-	37	5329	c.5329C>T	c.(5329-5331)CGG>TGG	p.R1777W		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1777	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GCTTGCTCCCGGAAAGCATTG	0.483000												
POLR3E	55718	broad.mit.edu	37	16	22319478	22319478	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:22319478C>T	uc002dkk.2	+	4	253	c.97C>T	c.(97-99)CGT>TGT	p.R33C	POLR3E_uc002dkj.1_Missense_Mutation_p.R33C|POLR3E_uc002dkm.2_5'UTR|POLR3E_uc010vbr.1_Missense_Mutation_p.R33C|POLR3E_uc002dkl.2_Missense_Mutation_p.R33C|POLR3E_uc010vbs.1_Intron|POLR3E_uc010vbt.1_5'UTR	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	33					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)		GTACCCTGTGCGTCCAGCCTC	0.622000												
RBBP6	5930	broad.mit.edu	37	16	24579195	24579195	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:24579195C>T	uc002dmh.2	+	16	3075	c.2035C>T	c.(2035-2037)CGT>TGT	p.R679C	RBBP6_uc010vcb.1_Missense_Mutation_p.R546C|RBBP6_uc002dmi.2_Intron|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Intron	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	679					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		TCAAAAGGAGCGTAGGCGCTC	0.348000												
SRCAP	10847	broad.mit.edu	37	16	30750774	30750774	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:30750774G>A	uc002dze.1	+	34	9798	c.9413G>A	c.(9412-9414)CGC>CAC	p.R3138H	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2933H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3138					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AAGTTGCCTCGCAAACGAGCA	0.632000												
TRIM72	493829	broad.mit.edu	37	16	31234251	31234251	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:31234251C>T	uc002ebn.1	+	6	1073	c.844C>T	c.(844-846)CGG>TGG	p.R282W	uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	282	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						GAAGATGTTCCGGGCTCTGAT	0.597000												
CES7	221223	broad.mit.edu	37	16	55903586	55903586	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:55903586G>T	uc002eip.2	-	4	637	c.488C>A	c.(487-489)GCT>GAT	p.A163D	CES7_uc002eio.2_Missense_Mutation_p.A163D|CES7_uc002eiq.2_Translation_Start_Site|CES7_uc002eir.2_Missense_Mutation_p.A57D	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	163						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		CTCATAGGCAGCCAGGGCGGA	0.557000												
SLC9A5	6553	broad.mit.edu	37	16	67290943	67290943	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:67290943G>T	uc002esm.2	+	7	1325	c.1262G>T	c.(1261-1263)AGG>ATG	p.R421M	SLC9A5_uc010cee.2_Missense_Mutation_p.R126M|SLC9A5_uc010vji.1_Translation_Start_Site	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	421					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CTACTGGATAGGACCAAGGTC	0.567000												
CTRL	1506	broad.mit.edu	37	16	67964638	67964638	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:67964638G>A	uc002euw.2	-	4	319	c.309C>T	c.(307-309)TCC>TCT	p.S103S		NM_001907	NP_001898	P40313	CTRL_HUMAN	chymotrypsin-like precursor	103	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CCCGAGAGACGGACAGAACCT	0.607000												
CHST5	23563	broad.mit.edu	37	16	75563965	75563965	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:75563965G>A	uc002fei.2	-	3	1713	c.318C>T	c.(316-318)AGC>AGT	p.S106S	CHST5_uc002fej.1_Silent_p.S112S	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	106	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GCGTTGCCGCGCTGCCCTGCG	0.612000												
SLC7A5	8140	broad.mit.edu	37	16	87870208	87870208	+	Missense_Mutation	SNP	C	C	T	rs149119495		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:87870208C>T	uc002fkm.2	-	8	1258	c.1186G>A	c.(1186-1188)GTC>ATC	p.V396I		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	396	Helical; (Potential).				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)		AAGTTGATGACGGAGAAGATG	0.602000												
TUBB3	10381	broad.mit.edu	37	16	89986277	89986277	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr16:89986277C>T	uc002fpf.2	+	1	1019	c.611C>T	c.(610-612)GCC>GTC	p.A204V	MC1R_uc002fpe.3_Missense_Mutation_p.A204V|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GTGCTCATGGCCGTGCTGTAC	0.657000												
USP6	9098	broad.mit.edu	37	17	5048857	5048857	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:5048857T>C	uc002gau.1	+	27	4380	c.2150T>C	c.(2149-2151)ATG>ACG	p.M717T	USP6_uc002gav.1_Missense_Mutation_p.M717T|USP6_uc010ckz.1_Missense_Mutation_p.M400T	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	717					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						GACAGTTACATGGACTTAGAA	0.333000			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts							
MYH4	4622	broad.mit.edu	37	17	10354172	10354172	+	Silent	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:10354172A>G	uc002gmn.2	-	29	4017	c.3906T>C	c.(3904-3906)GTT>GTC	p.V1302V	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1302	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						ATAGCTGAGAAACCATAGCAT	0.383000												
DNAH9	1770	broad.mit.edu	37	17	11806090	11806090	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:11806090G>T	uc002gne.2	+	60	11529	c.11461G>T	c.(11461-11463)GCT>TCT	p.A3821S	DNAH9_uc010coo.2_Missense_Mutation_p.A3115S|DNAH9_uc002gnf.2_Missense_Mutation_p.A133S|DNAH9_uc010vvh.1_Missense_Mutation_p.A174S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3821					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAGGGATCTGCTAAGAGCTG	0.468000												
SSH2	85464	broad.mit.edu	37	17	27959108	27959108	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:27959108C>T	uc002heo.1	-	15	3023	c.3023G>A	c.(3022-3024)AGG>AAG	p.R1008K	SSH2_uc010wbh.1_Missense_Mutation_p.R1035K	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1008					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						GATTTCTACCCTCTTGGGAAG	0.502000												
NF1	4763	broad.mit.edu	37	17	29552243	29552243	+	Missense_Mutation	SNP	G	G	A	rs151138158		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:29552243G>A	uc002hgg.2	+	17	2309	c.1976G>A	c.(1975-1977)CGG>CAG	p.R659Q	NF1_uc002hgh.2_Missense_Mutation_p.R659Q|NF1_uc010csn.1_Missense_Mutation_p.R519Q|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	659					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCCTCTCTCCGGAAGGGAAAA	0.393000			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
PLXDC1	57125	broad.mit.edu	37	17	37235398	37235398	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:37235398G>A	uc002hrg.2	-	10	1221	c.1009C>T	c.(1009-1011)CGC>TGC	p.R337C	uc002hre.1_Intron|uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.R45C|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	337	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3						TGGCGATAGCGGTCAAAGCCA	0.527000												
CASC3	22794	broad.mit.edu	37	17	38318390	38318390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38318390C>T	uc010cwt.1	+	5	887	c.592C>T	c.(592-594)CAG>TAG	p.Q198*	CASC3_uc010cws.1_Nonsense_Mutation_p.Q198*|CASC3_uc002hue.2_Nonsense_Mutation_p.Q198*	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	198	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						AGGGCAAACTCAGGAGGAGGA	0.348000												
CASC3	22794	broad.mit.edu	37	17	38319064	38319064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38319064C>T	uc010cwt.1	+	6	990	c.695C>T	c.(694-696)TCC>TTC	p.S232F	CASC3_uc010cws.1_Missense_Mutation_p.S232F|CASC3_uc002hue.2_Missense_Mutation_p.S232F	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	232	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						GCCCCAAAGTCCCGACAGGAG	0.512000												
CASC3	22794	broad.mit.edu	37	17	38319117	38319117	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38319117C>T	uc010cwt.1	+	6	1043	c.748C>T	c.(748-750)CCT>TCT	p.P250S	CASC3_uc010cws.1_Missense_Mutation_p.P250S|CASC3_uc002hue.2_Missense_Mutation_p.P250S	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	250	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						AGCTCATAATCCTGATGACAT	0.458000												
CASC3	22794	broad.mit.edu	37	17	38323834	38323834	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38323834C>T	uc010cwt.1	+	9	1915	c.1620C>T	c.(1618-1620)ATC>ATT	p.I540I	CASC3_uc002hue.2_Silent_p.I540I	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	540	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CAGTGCATATCAGTATCATGG	0.517000												
CASC3	22794	broad.mit.edu	37	17	38323862	38323862	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38323862C>T	uc010cwt.1	+	9	1943	c.1648C>T	c.(1648-1650)CCA>TCA	p.P550S	CASC3_uc002hue.2_Missense_Mutation_p.P550S	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	550	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						TTACTATGATCCACGTGAGTT	0.502000												
CASC3	22794	broad.mit.edu	37	17	38324513	38324513	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38324513C>T	uc010cwt.1	+	11	2103	c.1808C>T	c.(1807-1809)CCA>CTA	p.P603L	CASC3_uc002hue.2_Missense_Mutation_p.P603L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	603	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						TATCCCCCACCAGTGTCCATG	0.488000											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CASC3	22794	broad.mit.edu	37	17	38324586	38324586	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38324586C>T	uc010cwt.1	+	11	2176	c.1881C>T	c.(1879-1881)GTC>GTT	p.V627V	CASC3_uc002hue.2_Silent_p.V627V	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	627	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CTCCAGGCGTCATGAACTTTG	0.542000											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CASC3	22794	broad.mit.edu	37	17	38324639	38324639	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38324639C>T	uc010cwt.1	+	11	2229	c.1934C>T	c.(1933-1935)CCA>CTA	p.P645L	CASC3_uc002hue.2_Missense_Mutation_p.P645L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	645	Necessary for localization in cytoplasmic stress granules.|Poly-Pro.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CTGCCTCCCCCACCACCGCCT	0.478000											OREG0024392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CASC3	22794	broad.mit.edu	37	17	38325584	38325584	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38325584C>T	uc010cwt.1	+	12	2268	c.1973C>T	c.(1972-1974)TCA>TTA	p.S658L	CASC3_uc002hue.2_Missense_Mutation_p.S658L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	658	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CAGGCCCCATCACAGGTATAT	0.517000												
CASC3	22794	broad.mit.edu	37	17	38325681	38325681	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38325681C>T	uc010cwt.1	+	12	2365	c.2070C>T	c.(2068-2070)ATC>ATT	p.I690I	CASC3_uc002hue.2_Silent_p.I690I	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	690	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						CAGTCACCATCAAGCCCCCTC	0.557000												
CDC6	990	broad.mit.edu	37	17	38458232	38458232	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:38458232C>G	uc002huj.1	+	12	1872	c.1662C>G	c.(1660-1662)ATC>ATG	p.I554M		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	554					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						TTGGAAATATCTTAGCTACTG	0.358000												
HAP1	9001	broad.mit.edu	37	17	39888482	39888482	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:39888482C>T	uc002hxm.1	-	3	726	c.714G>A	c.(712-714)GAG>GAA	p.E238E	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Silent_p.E238E|HAP1_uc002hxo.1_Silent_p.E246E|HAP1_uc002hxp.1_Silent_p.E238E	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	238	HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCCGGTTACCTCCTCCTTGG	0.602000												
HAP1	9001	broad.mit.edu	37	17	39890671	39890671	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:39890671C>T	uc002hxm.1	-	1	228	c.216G>A	c.(214-216)TCG>TCA	p.S72S	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Silent_p.S72S|HAP1_uc002hxo.1_Silent_p.S72S|HAP1_uc002hxp.1_Silent_p.S72S	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	72					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTCCAGCCTCCGAGGCCGGGC	0.697000												
CNTNAP1	8506	broad.mit.edu	37	17	40842152	40842152	+	Silent	SNP	T	T	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:40842152T>G	uc002iay.2	+	12	1998	c.1782T>G	c.(1780-1782)ACT>ACG	p.T594T	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	594	Extracellular (Potential).|Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTGGGAAAACTTCTGGAAACT	0.468000												
HOXB5	3215	broad.mit.edu	37	17	46669802	46669802	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:46669802G>A	uc002inr.2	-	2	638	c.579C>T	c.(577-579)GAC>GAT	p.D193D	HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	193						nucleus	sequence-specific DNA binding				0						CCCTTTTCCCGTCCGGCCCGG	0.632000												
CACNA1G	8913	broad.mit.edu	37	17	48701418	48701418	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:48701418C>A	uc002irk.1	+	36	6583	c.6211C>A	c.(6211-6213)CTC>ATC	p.L2071I	CACNA1G_uc002irj.1_Missense_Mutation_p.L1944I|CACNA1G_uc002irl.1_Missense_Mutation_p.L1955I|CACNA1G_uc002irm.1_Missense_Mutation_p.L1992I|CACNA1G_uc002irn.1_Missense_Mutation_p.L1937I|CACNA1G_uc002iro.1_Missense_Mutation_p.L1944I|CACNA1G_uc002irp.1_Missense_Mutation_p.L2026I|CACNA1G_uc002irq.1_Missense_Mutation_p.L2048I|CACNA1G_uc002irr.1_Missense_Mutation_p.L1978I|CACNA1G_uc002irs.1_Missense_Mutation_p.L2015I|CACNA1G_uc002irt.1_Missense_Mutation_p.L1960I|CACNA1G_uc002irv.1_Missense_Mutation_p.L1967I|CACNA1G_uc002irw.1_Missense_Mutation_p.L2000I|CACNA1G_uc002iru.1_Missense_Mutation_p.L2037I|CACNA1G_uc002irx.1_Missense_Mutation_p.L1891I|CACNA1G_uc002iry.1_Missense_Mutation_p.L1880I|CACNA1G_uc002irz.1_Missense_Mutation_p.L1884I|CACNA1G_uc002isa.1_Missense_Mutation_p.L1857I|CACNA1G_uc002isb.1_Missense_Mutation_p.L1898I|CACNA1G_uc002isc.1_Missense_Mutation_p.L1973I|CACNA1G_uc002isd.1_Missense_Mutation_p.L1866I|CACNA1G_uc002ise.1_Missense_Mutation_p.L1894I|CACNA1G_uc002isf.1_Missense_Mutation_p.L1921I|CACNA1G_uc002isg.1_Missense_Mutation_p.L1839I|CACNA1G_uc002ish.1_Missense_Mutation_p.L1846I|CACNA1G_uc002isi.1_Missense_Mutation_p.L1834I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	2071	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGCTGGGGGCTCCCCAAAGC	0.617000												
KIF2B	84643	broad.mit.edu	37	17	51901324	51901324	+	Silent	SNP	G	G	A	rs139246128		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:51901324G>A	uc002iua.2	+	1	1086	c.930G>A	c.(928-930)ACG>ACA	p.T310T	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	310	ATP (By similarity).|Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						GTGGGAAGACGTACACCATGG	0.547000												
DGKE	8526	broad.mit.edu	37	17	54923170	54923170	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:54923170G>T	uc002iur.2	+	4	924	c.744G>T	c.(742-744)CAG>CAT	p.Q248H	DGKE_uc002ius.1_Missense_Mutation_p.Q248H	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	248	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)					ATCCAGTCCAGGTAACTAAAG	0.363000												
EPX	8288	broad.mit.edu	37	17	56272519	56272519	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:56272519C>A	uc002ivq.2	+	6	875	c.789C>A	c.(787-789)TGC>TGA	p.C263*		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	263					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						TGCCCCCCTGCTTTCCCATCA	0.622000												
TRIM47	91107	broad.mit.edu	37	17	73871176	73871176	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:73871176G>A	uc002jpw.2	-	6	1332	c.1305C>T	c.(1303-1305)GAC>GAT	p.D435D	TRIM47_uc002jpv.2_Silent_p.D197D	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	tripartite motif-containing 47	435	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|prostate(1)|lung(1)|breast(1)	5			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTCTGCTGTGTCGCTGTCCA	0.572000												
MGAT5B	146664	broad.mit.edu	37	17	74878309	74878309	+	Silent	SNP	C	C	T	rs149427118		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:74878309C>T	uc002jtg.3	+	3	572	c.258C>T	c.(256-258)GAC>GAT	p.D86D	MGAT5B_uc002jth.2_Silent_p.D86D|MGAT5B_uc002jti.2_Silent_p.D97D			Q3V5L5	MGT5B_HUMAN	Homo sapiens GnT-IX mRNA for N-Acetylglucosaminyltransferase IX, complete cds.	86	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3						AGCGCATGGACGCACTGGCCA	0.677000												
RNF213	57674	broad.mit.edu	37	17	78360611	78360611	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:78360611G>A	uc002jyh.1	+	38	9284	c.9061G>A	c.(9061-9063)GTG>ATG	p.V3021M	uc002jyi.1_Intron|RNF213_uc010dhx.1_Translation_Start_Site	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGAGAGACCGTGCAGGAGTT	0.587000												
RPTOR	57521	broad.mit.edu	37	17	78857671	78857671	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:78857671C>T	uc002jyt.1	+	16	2546	c.1741C>T	c.(1741-1743)CTC>TTC	p.L581F	RPTOR_uc010wug.1_Intron	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	581					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						GGCCATCTGCCTCGGCAGGAT	0.637000												
FASN	2194	broad.mit.edu	37	17	80044363	80044363	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:80044363C>A	uc002kdu.2	-	22	3616	c.3499G>T	c.(3499-3501)GCC>TCC	p.A1167S	FASN_uc002kdw.1_Missense_Mutation_p.A383S	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1167					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGGATCTGGGCCCCATCCAGT	0.682000												
CCDC57	284001	broad.mit.edu	37	17	80159471	80159471	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:80159471T>A	uc002kdz.1	-	3	705	c.350A>T	c.(349-351)CAG>CTG	p.Q117L	CCDC57_uc002kdx.1_Missense_Mutation_p.Q117L	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	117	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTGCTGCTGCTGCAGCTCCTC	0.662000												
ANKRD29	147463	broad.mit.edu	37	18	21214092	21214092	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:21214092C>T	uc002kun.2	-	5	509	c.352G>A	c.(352-354)GCT>ACT	p.A118T	ANKRD29_uc002kuo.2_Missense_Mutation_p.A118T	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	118	ANK 4.									ovary(3)|breast(1)	4	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGACTGGCAGCCAACAGGGCG	0.517000												
LAMA3	3909	broad.mit.edu	37	18	21407422	21407422	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:21407422C>T	uc002kuq.2	+	23	2900	c.2814C>T	c.(2812-2814)AGC>AGT	p.S938S	LAMA3_uc002kur.2_Silent_p.S938S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	938	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGACCTCAGCGGGAGAGAGG	0.522000												
ZNF521	25925	broad.mit.edu	37	18	22806394	22806394	+	Silent	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:22806394G>T	uc002kvk.2	-	4	1735	c.1488C>A	c.(1486-1488)ATC>ATA	p.I496I	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.I496I|ZNF521_uc002kvl.2_Silent_p.I276I	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	496	C2H2-type 11.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGAACATCGGATGTGTTCCT	0.463000			T	PAX5	ALL							
DCC	1630	broad.mit.edu	37	18	51013255	51013255	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:51013255G>A	uc002lfe.1	+	26	4412	c.3825G>A	c.(3823-3825)CCG>CCA	p.P1275P	DCC_uc010dpf.1_Silent_p.P910P	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1275	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATCCCCACCCGCAGTTCACTC	0.537000												
SERPINB12	89777	broad.mit.edu	37	18	61223522	61223522	+	Silent	SNP	T	T	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:61223522T>C	uc010xen.1	+	1	130	c.130T>C	c.(130-132)TTG>CTG	p.L44L	SERPINB12_uc010xeo.1_Silent_p.L44L	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	44					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity				0						TATGGTACGCTTGGGTGCTAG	0.458000												
DSEL	92126	broad.mit.edu	37	18	65179723	65179723	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:65179723A>G	uc002lke.1	-	2	3377	c.2153T>C	c.(2152-2154)GTC>GCC	p.V718A		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	708						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				AGTATTATTGACATTGAGAGA	0.373000												
CNDP2	55748	broad.mit.edu	37	18	72180886	72180886	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:72180886G>T	uc002llm.1	+	8	997	c.835G>T	c.(835-837)GAC>TAC	p.D279Y	CNDP2_uc002lln.1_Missense_Mutation_p.D195Y|CNDP2_uc010dqs.2_Intron	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	279						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GCTGTACGACGACATCGACTT	0.597000												
ZNF236	7776	broad.mit.edu	37	18	74620354	74620354	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:74620354G>A	uc002lmi.2	+	14	2568	c.2370G>A	c.(2368-2370)ATG>ATA	p.M790I	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	790					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGCAGAGCATGCAGGCCTCCA	0.572000												
POLR2E	5434	broad.mit.edu	37	19	1093981	1093981	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:1093981G>A	uc002lre.3	-	2	231	c.154C>T	c.(154-156)CGG>TGG	p.R52W	POLR2E_uc010xgf.1_Intron	NM_002695	NP_002686	P19388	RPAB1_HUMAN	DNA directed RNA polymerase II polypeptide E	52					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGCGGCCGCCCCTCACTC	0.647000												
C3	718	broad.mit.edu	37	19	6707183	6707183	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:6707183C>T	uc002mfm.2	-	17	2211	c.2149G>A	c.(2149-2151)GGC>AGC	p.G717S		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	717	Anaphylatoxin-like.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CACGCCTCGCCCAGGGAGATG	0.662000												
MYO1F	4542	broad.mit.edu	37	19	8620596	8620596	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:8620596C>T	uc002mkg.2	-	2	202	c.88G>A	c.(88-90)GAA>AAA	p.E30K	MYO1F_uc002mkh.2_Missense_Mutation_p.E30K|MYO1F_uc010xkf.1_Missense_Mutation_p.E30K	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	30	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						ATGGCGTCTTCGGTGATCTGG	0.617000												
S1PR5	53637	broad.mit.edu	37	19	10625085	10625085	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:10625085G>A	uc002mot.1	-	2	660	c.603C>T	c.(601-603)TTC>TTT	p.F201F	S1PR5_uc002mou.1_Silent_p.F201F	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	endothelial differentiation, sphingolipid	201	Helical; Name=5; (By similarity).					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|pancreas(1)	2						GGATGCCCACGAAGGCGAGCA	0.682000												
NOTCH3	4854	broad.mit.edu	37	19	15281167	15281167	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:15281167C>T	uc002nan.2	-	27	5165	c.5089G>A	c.(5089-5091)GTG>ATG	p.V1697M		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1697	Cytoplasmic (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCTGGCCCACGGGTTCCCGC	0.667000												
SLC5A5	6528	broad.mit.edu	37	19	17983472	17983472	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:17983472C>T	uc002nhr.3	+	1	691	c.344C>T	c.(343-345)ACC>ATC	p.T115I		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	115	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CTGGGCCTCACCAGCACCTAC	0.672000												
TSSK6	83983	broad.mit.edu	37	19	19625866	19625866	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:19625866C>T	uc002nmr.2	-	1	604	c.371G>A	c.(370-372)CGC>CAC	p.R124H	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	124	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						GTGCAGGTAGCGCACGGCGCC	0.682000												
ZNF626	199777	broad.mit.edu	37	19	20807757	20807757	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:20807757C>A	uc002npb.1	-	4	1076	c.926G>T	c.(925-927)GGA>GTA	p.G309V	ZNF626_uc002npc.1_Missense_Mutation_p.G233V	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						GGGTTTTTCTCCAGTATGAAT	0.368000												
PLEKHF1	79156	broad.mit.edu	37	19	30165559	30165559	+	Silent	SNP	G	G	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:30165559G>C	uc002nsh.3	+	2	915	c.813G>C	c.(811-813)GGG>GGC	p.G271G	PLEKHF1_uc002nsi.3_Silent_p.G356G	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	271					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			ACGCCTCGGGGGTGGCCTGGT	0.667000												
SIPA1L3	23094	broad.mit.edu	37	19	38572746	38572746	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:38572746G>A	uc002ohk.2	+	3	1050	c.541G>A	c.(541-543)GCG>ACG	p.A181T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	181					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGAGTGTGACGCGGAGGACGC	0.736000												
GRIK5	2901	broad.mit.edu	37	19	42566769	42566769	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:42566769G>A	uc002osj.1	-	4	414	c.379C>T	c.(379-381)CGC>TGC	p.R127C	GRIK5_uc010eib.1_Missense_Mutation_p.R46C	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	127	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TACTGAAGGCGGGGTGTCTCC	0.612000												
C19orf61	56006	broad.mit.edu	37	19	44237020	44237020	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:44237020C>T	uc002oxj.2	-	13	1817	c.1474G>A	c.(1474-1476)GAG>AAG	p.E492K	C19orf61_uc002oxk.2_Missense_Mutation_p.E492K	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	SMG9 protein	492					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding				0		Prostate(69;0.0352)				CAGTTCTTCTCGGTGAGGATC	0.582000												
TEAD2	8463	broad.mit.edu	37	19	49863201	49863201	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:49863201C>T	uc002pnj.2	-	2	223	c.132G>A	c.(130-132)GTG>GTA	p.V44V	TEAD2_uc002png.2_Silent_p.V44V|TEAD2_uc002pnh.2_Silent_p.V44V|TEAD2_uc002pni.2_Silent_p.V44V|TEAD2_uc010yao.1_Intron|TEAD2_uc010emw.2_Silent_p.V44V	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	44	TEA.				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)		CTGGGCTCCACACCCCCTCTG	0.632000												
LRRC4B	94030	broad.mit.edu	37	19	51022587	51022587	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:51022587C>T	uc002pss.2	-	3	520	c.383G>A	c.(382-384)GGC>GAC	p.G128D		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	128	Extracellular (Potential).|LRR 2.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTTGAAGGCGCCCACCTCGAT	0.627000												
ZNF350	59348	broad.mit.edu	37	19	52469108	52469108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:52469108G>A	uc002pyd.2	-	5	826	c.598C>T	c.(598-600)CGA>TGA	p.R200*	uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	200					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TCTAATTTTCGTGTTTTCTGA	0.418000												
ZNF415	55786	broad.mit.edu	37	19	53612518	53612518	+	Silent	SNP	C	C	T	rs142864555		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:53612518C>T	uc002qax.2	-	7	1273	c.924G>A	c.(922-924)GCG>GCA	p.A308A	ZNF415_uc002qat.2_Silent_p.A272A|ZNF415_uc002qaw.2_Silent_p.A260A|ZNF415_uc010yds.1_Silent_p.A260A|ZNF415_uc010ydt.1_Silent_p.A260A|ZNF415_uc002qau.2_Silent_p.A247A|ZNF415_uc002qav.2_Silent_p.A272A|ZNF415_uc002qba.2_Silent_p.A30A|ZNF415_uc002qay.2_Silent_p.A247A|ZNF415_uc002qaz.2_Silent_p.A308A	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	308	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		TCCAATGACGCGCAAGGTTTG	0.423000												
TFPT	29844	broad.mit.edu	37	19	54611352	54611352	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:54611352G>A	uc010yej.1	-	5	1029	c.623C>T	c.(622-624)CCA>CTA	p.P208L		NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner	208					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding				0	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					GGCCAGCTCTGGAGTCAGCGC	0.711000			T	TCF3	pre-B ALL							
ZIM3	114026	broad.mit.edu	37	19	57647341	57647341	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:57647341C>T	uc002qnz.1	-	5	750	c.364G>A	c.(364-366)GGA>AGA	p.G122R		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCTTAGATCCGTCACATTCT	0.393000												
ZNF324B	388569	broad.mit.edu	37	19	58967763	58967763	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:58967763G>A	uc002qsv.1	+	4	1559	c.1452G>A	c.(1450-1452)ACG>ACA	p.T484T	ZNF324B_uc002qsu.1_Silent_p.T474T|ZNF324B_uc010euq.1_Silent_p.T484T	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	484	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCGTGTGCACGCAGTGTGGCC	0.672000												
OSR1	130497	broad.mit.edu	37	2	19552099	19552099	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:19552099G>A	uc002rdc.2	-	3	1041	c.738C>T	c.(736-738)CTC>CTT	p.L246L		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	odd-skipped related 1	246	C2H2-type 3.				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TGTGGACAGCGAGAGTCCTGG	0.498000												
SOCS5	9655	broad.mit.edu	37	2	46985797	46985797	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:46985797A>G	uc002rvf.2	+	2	292	c.128A>G	c.(127-129)AAA>AGA	p.K43R	SOCS5_uc010yoe.1_Missense_Mutation_p.K12R|SOCS5_uc002rvg.2_Missense_Mutation_p.K43R	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	43					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GTCAAAGAGAAAAACATCAGC	0.418000												
VRK2	7444	broad.mit.edu	37	2	58366924	58366924	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:58366924C>T	uc002rzo.2	+	14	1725	c.980C>T	c.(979-981)ACA>ATA	p.T327I	VRK2_uc010fcb.2_Missense_Mutation_p.T327I|VRK2_uc002rzs.2_Missense_Mutation_p.T327I|VRK2_uc002rzr.2_Missense_Mutation_p.T327I|VRK2_uc010fcc.2_Missense_Mutation_p.T209I|VRK2_uc002rzv.2_Missense_Mutation_p.T327I|VRK2_uc010fcd.2_Missense_Mutation_p.T304I|VRK2_uc002rzp.2_Missense_Mutation_p.T327I|VRK2_uc010ypg.1_Missense_Mutation_p.T327I|VRK2_uc002rzq.2_Missense_Mutation_p.T327I|VRK2_uc002rzu.2_Missense_Mutation_p.T327I|VRK2_uc002rzt.2_Missense_Mutation_p.T209I	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	vaccinia related kinase 2 isoform 2	327						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						GACTTTTCCACAAAAGGACAG	0.363000												
DCTN1	1639	broad.mit.edu	37	2	74598237	74598237	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:74598237G>A	uc002skx.2	-	9	1023	c.712C>T	c.(712-714)CGG>TGG	p.R238W	DCTN1_uc002skv.2_Missense_Mutation_p.R104W|DCTN1_uc002sku.2_Missense_Mutation_p.R104W|DCTN1_uc002skw.1_Missense_Mutation_p.R214W|DCTN1_uc010ffd.2_Missense_Mutation_p.R218W|DCTN1_uc002sky.2_Missense_Mutation_p.R201W	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	238	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						TCTTCTGCCCGTTTCAGTCTC	0.552000												
LRRTM1	347730	broad.mit.edu	37	2	80530368	80530368	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:80530368C>T	uc002sok.1	-	2	847	c.577G>A	c.(577-579)GGA>AGA	p.G193R	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	193	LRR 5.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						TGATTGTATCCGATGTCGAGA	0.572000										HNSCC(69;0.2)		
GPR45	11250	broad.mit.edu	37	2	105859168	105859168	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:105859168G>A	uc002tco.1	+	1	969	c.853G>A	c.(853-855)GTC>ATC	p.V285I		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	285	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.V285I(1)		ovary(1)|breast(1)|central_nervous_system(1)	3						GCCCCACTCCGTCTACAGCCT	0.582000												
C2orf40	84417	broad.mit.edu	37	2	106690499	106690499	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:106690499G>A	uc010fjf.2	+	3	393	c.285G>A	c.(283-285)GCG>GCA	p.A95A		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	esophageal cancer related gene 4 protein	95						extracellular region|transport vesicle					0						TTGACGAAGCGGTAGGTGTTG	0.612000												
FBLN7	129804	broad.mit.edu	37	2	112944983	112944983	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:112944983C>T	uc002tho.1	+	8	1491	c.1220C>T	c.(1219-1221)ACG>ATG	p.T407M	FBLN7_uc002thn.2_Missense_Mutation_p.R323C|FBLN7_uc010fki.1_Missense_Mutation_p.T361M|FBLN7_uc010fkj.1_Missense_Mutation_p.T273M	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	407					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	p.T407M(1)		ovary(1)|central_nervous_system(1)	2						GGGCCTCAGACGCTGGAGGTG	0.592000												
THSD7B	80731	broad.mit.edu	37	2	137990641	137990641	+	Silent	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:137990641A>G	uc002tva.1	+	8	1995	c.1995A>G	c.(1993-1995)GTA>GTG	p.V665V	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.V555V	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGTGTGGTGTAGGCATTCAGA	0.468000												
STAM2	10254	broad.mit.edu	37	2	152992113	152992113	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:152992113C>T	uc002tyc.3	-	8	1059	c.709G>A	c.(709-711)GCC>ACC	p.A237T	STAM2_uc010foa.1_Missense_Mutation_p.A237T|STAM2_uc002tyd.2_Missense_Mutation_p.A237T	NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	237	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		CACCAATTGGCATCACTAAAA	0.303000												
TTN	7273	broad.mit.edu	37	2	179408275	179408275	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:179408275A>G	uc010zfg.1	-	296	88945	c.88721T>C	c.(88720-88722)GTT>GCT	p.V29574A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V23269A|TTN_uc010zfi.1_Missense_Mutation_p.V23202A|TTN_uc010zfj.1_Missense_Mutation_p.V23077A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30501							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)			ACGCTTCTCAACGATGTAATT	0.408000												
TTN	7273	broad.mit.edu	37	2	179417845	179417845	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:179417845C>T	uc010zfg.1	-	284	82302	c.82078G>A	c.(82078-82080)GTT>ATT	p.V27360I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V21055I|TTN_uc010zfi.1_Missense_Mutation_p.V20988I|TTN_uc010zfj.1_Missense_Mutation_p.V20863I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28287							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)			AGCACTTTAACACTCACAGTT	0.428000												
C2orf69	205327	broad.mit.edu	37	2	200790353	200790353	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:200790353G>A	uc010zhb.1	+	2	1085	c.902G>A	c.(901-903)GGT>GAT	p.G301D		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	hypothetical protein LOC205327 precursor	301						extracellular region				central_nervous_system(1)	1						TGGCTGGATGGTGGTCATTCT	0.363000												
CPO	130749	broad.mit.edu	37	2	207820188	207820188	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:207820188T>A	uc002vby.2	+	3	213	c.167T>A	c.(166-168)ATC>AAC	p.I56N		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	56					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTGTTTCAGATCTATGAGTGG	0.438000												
IRS1	3667	broad.mit.edu	37	2	227662669	227662669	+	Silent	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:227662669A>G	uc002voh.3	-	1	838	c.786T>C	c.(784-786)GAT>GAC	p.D262D		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	262	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGCGGAACTCATCACTCATGG	0.647000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CHRND	1144	broad.mit.edu	37	2	233396134	233396134	+	Missense_Mutation	SNP	G	G	A	rs139722128		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:233396134G>A	uc002vsw.2	+	8	897	c.893G>A	c.(892-894)CGT>CAT	p.R298H	CHRND_uc010zmg.1_Missense_Mutation_p.R283H|CHRND_uc010fyc.2_Missense_Mutation_p.R171H|CHRND_uc010zmh.1_Missense_Mutation_p.R104H	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	298	Helical; (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		ATCTCCAAGCGTCTGCCTGCC	0.612000												
SLC23A2	9962	broad.mit.edu	37	20	4880333	4880333	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:4880333G>A	uc002wlg.1	-	6	725	c.350C>T	c.(349-351)ACG>ATG	p.T117M	SLC23A2_uc010zqr.1_Missense_Mutation_p.T116M|SLC23A2_uc002wlh.1_Missense_Mutation_p.T117M|SLC23A2_uc002wli.2_Missense_Mutation_p.T116M	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	117	Helical; (Potential).				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						CACTGCGATCGTGCCGCTGAA	0.517000												
SNX5	27131	broad.mit.edu	37	20	17928170	17928170	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:17928170G>A	uc002wqc.2	-	11	1124	c.1038C>T	c.(1036-1038)TGC>TGT	p.C346C	SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Silent_p.C346C|SNX5_uc002wqe.2_Silent_p.C241C|SNX5_uc010zrt.1_Silent_p.C346C	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	346	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			large_intestine(1)	1						ATTTCTGGCAGCACTCCTGCT	0.393000												
TMEM90B	79953	broad.mit.edu	37	20	24524112	24524112	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:24524112G>A	uc002wtw.1	+	2	1012	c.379G>A	c.(379-381)GAG>AAG	p.E127K		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	127	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						AGACAGCCTCGAGTACCCGGA	0.597000												
XKR7	343702	broad.mit.edu	37	20	30585189	30585189	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:30585189G>T	uc002wxe.2	+	3	1843	c.1669G>T	c.(1669-1671)GCC>TCC	p.A557S		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	557						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTCCTCACCTGCCACGCCCCG	0.592000												
ZNF341	84905	broad.mit.edu	37	20	32344953	32344953	+	Splice_Site	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:32344953G>T	uc002wzy.2	+	6	762	c.742_splice	c.e6-1	p.V248_splice	ZNF341_uc002wzx.2_Splice_Site_p.V248_splice|ZNF341_uc010geq.2_Splice_Site_p.V158_splice|ZNF341_uc010ger.2_Splice_Site	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGTCCTCCTAGGTGCCAAACC	0.607000												
PROCR	10544	broad.mit.edu	37	20	33764082	33764082	+	Missense_Mutation	SNP	C	C	T	rs144485700	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:33764082C>T	uc002xbt.2	+	3	618	c.434C>T	c.(433-435)CCG>CTG	p.P145L	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Missense_Mutation_p.P182L	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	145	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	AGTTTCCGGCCGGAGAGAGCC	0.597000												
MMP24	10893	broad.mit.edu	37	20	33842535	33842535	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:33842535G>A	uc002xbu.2	+	4	798	c.795G>A	c.(793-795)ACG>ACA	p.T265T	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	265	Extracellular (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGCCATGGACGCTAGGAAATG	0.562000												
CPNE1	8904	broad.mit.edu	37	20	34214684	34214684	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:34214684C>T	uc002xdf.2	-	17	1641	c.1278G>A	c.(1276-1278)ACG>ACA	p.T426T	CPNE1_uc002xdc.2_Silent_p.T88T|CPNE1_uc010zvj.1_Silent_p.T431T|CPNE1_uc002xde.2_Silent_p.T402T|CPNE1_uc002xdg.2_Silent_p.T426T|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Silent_p.T426T|CPNE1_uc002xdi.2_Silent_p.T426T|CPNE1_uc002xdj.2_Silent_p.T426T|CPNE1_uc002xdk.2_Silent_p.T426T|CPNE1_uc002xdl.2_Silent_p.T426T|CPNE1_uc002xdm.2_Silent_p.T426T	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	426	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTTCCACATCCGTCACAGCAC	0.557000												
ZHX3	23051	broad.mit.edu	37	20	39831076	39831076	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:39831076G>A	uc002xjs.1	-	3	2859	c.2481C>T	c.(2479-2481)TAC>TAT	p.Y827Y	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Silent_p.Y827Y|ZHX3_uc002xjt.1_Silent_p.Y827Y|ZHX3_uc002xju.1_Silent_p.Y827Y|ZHX3_uc002xjv.1_Silent_p.Y827Y|ZHX3_uc002xjw.1_Silent_p.Y827Y|ZHX3_uc010ggg.1_Silent_p.Y827Y	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	827					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				TATAGTCTTCGTACCATTTGA	0.557000												
R3HDML	140902	broad.mit.edu	37	20	42973989	42973989	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:42973989G>A	uc002xls.1	+	4	772	c.600G>A	c.(598-600)GCG>GCA	p.A200A		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	200						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GGCATCGGGCGGCATACCTGG	0.572000												
UCKL1	54963	broad.mit.edu	37	20	62571599	62571599	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr20:62571599C>T	uc010gkn.2	-	14	1514	c.1471G>A	c.(1471-1473)GTG>ATG	p.V491M	UCKL1_uc002yhj.2_Missense_Mutation_p.V134M|UCKL1_uc011abm.1_Missense_Mutation_p.V476M|UCKL1_uc011abn.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	491					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACTGAGTGCACGCCCATCTCT	0.557000												
CECR2	27443	broad.mit.edu	37	22	18028575	18028575	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:18028575A>G	uc010gqw.1	+	16	3658	c.3532A>G	c.(3532-3534)ACT>GCT	p.T1178A	CECR2_uc010gqv.1_Missense_Mutation_p.T1036A|CECR2_uc002zml.2_Missense_Mutation_p.T1037A|CECR2_uc002zmo.2_RNA	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1220					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CTATCAGCGAACTCCTTACTA	0.602000												
DGCR8	54487	broad.mit.edu	37	22	20077195	20077195	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:20077195G>A	uc002zri.2	+	4	1234	c.884G>A	c.(883-885)CGT>CAT	p.R295H	DGCR8_uc010grz.2_Missense_Mutation_p.R295H|DGCR8_uc002zrj.2_Translation_Start_Site	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	295	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					TGTGCAGGTCGTGGCCGCCCA	0.522000												
PI4KA	5297	broad.mit.edu	37	22	21075694	21075694	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:21075694G>A	uc002zsz.3	-	43	5065	c.4834C>T	c.(4834-4836)CGG>TGG	p.R1612W	PI4KA_uc010gsp.2_Missense_Mutation_p.R5W|PI4KA_uc002zsy.3_Missense_Mutation_p.R422W	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1612					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATATACTCCCGCACATAGCCC	0.547000												
AP1B1	162	broad.mit.edu	37	22	29745311	29745311	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:29745311G>A	uc003afj.2	-	11	1517	c.1333C>T	c.(1333-1335)CGG>TGG	p.R445W	AP1B1_uc003afi.2_Missense_Mutation_p.R445W|AP1B1_uc003afk.2_Missense_Mutation_p.R445W|AP1B1_uc003afl.2_Missense_Mutation_p.R445W|AP1B1_uc011ako.1_5'UTR	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	445					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						ATGGCAGCCCGGGCCTCAGGC	0.587000												
DMC1	11144	broad.mit.edu	37	22	38935386	38935386	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:38935386G>A	uc003avz.1	-	9	701	c.526C>T	c.(526-528)CGC>TGC	p.R176C	DMC1_uc011anv.1_Intron	NM_007068	NP_008999	Q14565	DMC1_HUMAN	DMC1 dosage suppressor of mck1 homolog	176					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)					ACATTAAAGCGATCAGCAATG	0.423000								Homologous_recombination				
MGAT3	4248	broad.mit.edu	37	22	39884327	39884327	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:39884327C>T	uc003axv.3	+	2	1214	c.975C>T	c.(973-975)GAC>GAT	p.D325D	MGAT3_uc010gxy.2_Silent_p.D325D	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	325	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					CGGCCCGTGACGGCGTCCTTT	0.647000												
MCHR1	2847	broad.mit.edu	37	22	41075595	41075595	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:41075595A>G	uc003ayz.2	+	1	414	c.146A>G	c.(145-147)CAG>CGG	p.Q49R	MCHR1_uc003aza.2_Intron	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	49	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0						AGGCTGCCGCAGCCTGCGTGG	0.701000												
EFCAB6	64800	broad.mit.edu	37	22	44022428	44022428	+	Silent	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:44022428A>G	uc003bdy.1	-	20	2579	c.2364T>C	c.(2362-2364)CTT>CTC	p.L788L	EFCAB6_uc003bdz.1_Silent_p.L636L|EFCAB6_uc010gzi.1_Silent_p.L636L|EFCAB6_uc010gzj.1_Silent_p.L86L|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	788					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				TCAAGCCAAGAAGGCCAAGGA	0.438000												
CNTN4	152330	broad.mit.edu	37	3	2967352	2967352	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:2967352T>C	uc003bpc.2	+	12	1468	c.1247T>C	c.(1246-1248)GTA>GCA	p.V416A	CNTN4_uc003bpb.1_Missense_Mutation_p.V88A|CNTN4_uc003bpd.1_Missense_Mutation_p.V416A|CNTN4_uc003bpe.2_Missense_Mutation_p.V88A|CNTN4_uc003bpf.2_Missense_Mutation_p.V88A	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	416	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTGAAAAGAGTAACTCTTGTC	0.368000												
RAB5A	5868	broad.mit.edu	37	3	20017628	20017628	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:20017628C>T	uc003cbn.2	+	4	940	c.405C>T	c.(403-405)GCC>GCT	p.A135A	RAB5A_uc010hey.2_RNA|RAB5A_uc011awg.1_Silent_p.A121A	NM_004162	NP_004153	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	135	GTP.				blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity				0						GAAACAAGGCCGACCTAGCAA	0.363000												
SUSD5	26032	broad.mit.edu	37	3	33195442	33195442	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:33195442G>A	uc003cfo.1	-	5	1100	c.682C>T	c.(682-684)CGG>TGG	p.R228W		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	228	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						GCCTCTGTCCGGGAATCCTCC	0.512000												
ZNF621	285268	broad.mit.edu	37	3	40574034	40574034	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:40574034C>T	uc003ckm.2	+	5	989	c.773C>T	c.(772-774)ACG>ATG	p.T258M	ZNF621_uc003ckn.2_Missense_Mutation_p.T258M|ZNF621_uc003cko.2_Missense_Mutation_p.T223M|ZNF621_uc011aze.1_Missense_Mutation_p.T250M	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AGATTACACACGGGAGAGAAA	0.433000												
LOC646498	646498	broad.mit.edu	37	3	49227333	49227333	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:49227333A>C	uc011bcj.1	-	1	95	c.89T>G	c.(88-90)CTT>CGT	p.L30R		NM_001080528	NP_001073997			hypothetical LOC646498												0				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.00221)|KIRC - Kidney renal clear cell carcinoma(197;0.00247)		CAGAGAAGAAAGGTAAAGCCT	0.507000												
STAB1	23166	broad.mit.edu	37	3	52556204	52556204	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:52556204C>T	uc003dej.2	+	59	6497	c.6423C>T	c.(6421-6423)CGC>CGT	p.R2141R	STAB1_uc003dek.1_Silent_p.R156R|STAB1_uc003del.2_Silent_p.R28R	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2141	EGF-like 16.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATGGCCACCGCGGGGGCTGCA	0.667000												
PBRM1	55193	broad.mit.edu	37	3	52610695	52610695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:52610695G>A	uc003des.2	-	22	3565	c.3553C>T	c.(3553-3555)CGA>TGA	p.R1185*	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Nonsense_Mutation_p.R1185*|PBRM1_uc003der.2_Nonsense_Mutation_p.R1153*|PBRM1_uc003det.2_Nonsense_Mutation_p.R1200*|PBRM1_uc003deu.2_Nonsense_Mutation_p.R1200*|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Nonsense_Mutation_p.R1185*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.R1160*|PBRM1_uc003dey.2_Nonsense_Mutation_p.R1160*|PBRM1_uc003dez.1_Nonsense_Mutation_p.R1184*	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1185	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.R1185*(1)		kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCTCCATCTCGAACCCATACT	0.338000			Mis|N|F|S|D|O		clear cell renal carcinoma|breast							
ABHD6	57406	broad.mit.edu	37	3	58260420	58260420	+	Missense_Mutation	SNP	C	C	T	rs34260150		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:58260420C>T	uc003djs.3	+	6	969	c.559C>T	c.(559-561)CGG>TGG	p.R187W	ABHD6_uc003djr.2_Missense_Mutation_p.R187W|ABHD6_uc003djt.3_Missense_Mutation_p.R187W	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	187	Cytoplasmic (Potential).					integral to membrane	acylglycerol lipase activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ATTTGTACAACGGCTCAAAGA	0.468000												
PROS1	5627	broad.mit.edu	37	3	93619668	93619668	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:93619668A>G	uc003drb.3	-	7	1048	c.707T>C	c.(706-708)CTC>CCC	p.L236P	PROS1_uc010hoo.2_Missense_Mutation_p.L105P|PROS1_uc003dqz.3_Missense_Mutation_p.L105P	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	236	EGF-like 3; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CTTTGATTTGAGATTATATCT	0.433000												
TOMM70A	9868	broad.mit.edu	37	3	100093959	100093959	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:100093959T>A	uc003dtw.2	-	7	1562	c.1130A>T	c.(1129-1131)TAC>TTC	p.Y377F		NM_014820	NP_055635	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70	377	Cytoplasmic (Potential).|TPR 5.				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			ovary(1)	1						CTGTTGCATGTACATGCTGCC	0.428000												
ALCAM	214	broad.mit.edu	37	3	105264131	105264131	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:105264131G>A	uc003dvx.2	+	9	1596	c.1056G>A	c.(1054-1056)GTG>GTA	p.V352V	ALCAM_uc003dvw.1_Silent_p.V352V|ALCAM_uc003dvy.2_Silent_p.V352V|ALCAM_uc011bhh.1_3'UTR|ALCAM_uc010hpp.2_Silent_p.V74V|ALCAM_uc003dvz.2_5'UTR	NM_001627	NP_001618	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	352	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(2)|breast(1)	3						CCCTACCCGTGTCATGCACAA	0.403000												
ZBTB20	26137	broad.mit.edu	37	3	114058128	114058128	+	Silent	SNP	G	G	A	rs144019743	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:114058128G>A	uc003ebi.2	-	5	2130	c.1950C>T	c.(1948-1950)AAC>AAT	p.N650N	ZBTB20_uc003ebj.2_Silent_p.N577N|ZBTB20_uc010hqp.2_Silent_p.N577N|ZBTB20_uc003ebk.2_Silent_p.N577N|ZBTB20_uc003ebl.2_Silent_p.N577N|ZBTB20_uc003ebm.2_Silent_p.N577N|ZBTB20_uc003ebn.2_Silent_p.N577N	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	650	C2H2-type 3.				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)		GCATGTGCACGTTGAGGGAGC	0.532000												
SEMA5B	54437	broad.mit.edu	37	3	122632748	122632748	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:122632748G>A	uc003efz.1	-	15	2393	c.2089C>T	c.(2089-2091)CGC>TGC	p.R697C	SEMA5B_uc011bju.1_Missense_Mutation_p.R639C|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R697C|SEMA5B_uc010hro.1_Missense_Mutation_p.R639C|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	697	Extracellular (Potential).|TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		CCCCCGTGGCGGGGAGCAGGG	0.672000												
KALRN	8997	broad.mit.edu	37	3	124103819	124103819	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:124103819G>A	uc003ehg.2	+	11	2019	c.1892G>A	c.(1891-1893)CGC>CAC	p.R631H	KALRN_uc010hrv.1_Missense_Mutation_p.R631H|KALRN_uc003ehf.1_Missense_Mutation_p.R631H|KALRN_uc011bjy.1_Missense_Mutation_p.R631H|KALRN_uc003ehh.1_5'UTR	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	631	Spectrin 3.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GACTTCGTGCGCAGGGTGGAG	0.572000												
UROC1	131669	broad.mit.edu	37	3	126229550	126229550	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:126229550C>T	uc003eiz.1	-	2	246	c.214G>A	c.(214-216)GGA>AGA	p.G72R	UROC1_uc010hsi.1_Missense_Mutation_p.G72R	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	72					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		TAGATGTGTCCGTACAGTTGC	0.612000												
CPNE4	131034	broad.mit.edu	37	3	131442406	131442406	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:131442406C>T	uc003eok.2	-	3	679	c.244G>A	c.(244-246)GAC>AAC	p.D82N	CPNE4_uc011blq.1_Missense_Mutation_p.D100N|CPNE4_uc003eol.2_Missense_Mutation_p.D100N|CPNE4_uc003eom.2_Missense_Mutation_p.D82N	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	82	C2 1.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AAGTAAAAGTCCACAGTAAAC	0.493000												
BCHE	590	broad.mit.edu	37	3	165547539	165547539	+	Missense_Mutation	SNP	C	C	A	rs149097236		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:165547539C>A	uc003fem.3	-	2	1443	c.1283G>T	c.(1282-1284)TGC>TTC	p.C428F	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	428					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)	CAAGGCAGGGCATATGAAATT	0.438000												
SERPINI2	5276	broad.mit.edu	37	3	167183292	167183292	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:167183292C>A	uc003fer.1	-	3	706	c.648G>T	c.(646-648)ATG>ATT	p.M216I	SERPINI2_uc003fes.1_Missense_Mutation_p.M226I|SERPINI2_uc003fet.1_Missense_Mutation_p.M216I	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	216					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						GAAGAGCCTTCATCATTGGAA	0.313000												
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PIK3CA	5290	broad.mit.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	rs121913286		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:178936094C>A	uc003fjk.2	+	10	1793	c.1636C>A	c.(1636-1638)CAG>AAG	p.Q546K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	546	PI3K helical.		Q -> K (in cancer).|Q -> P (in cancer).|Q -> E (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546K(54)|p.Q546R(17)|p.Q546P(10)|p.Q546E(9)|p.Q546L(6)|p.Q546H(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCACTGAGCAGGAGAAAGA	0.358000		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
VPS8	23355	broad.mit.edu	37	3	184573526	184573526	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:184573526G>A	uc003fpb.1	+	13	1228	c.1057G>A	c.(1057-1059)GCC>ACC	p.A353T	VPS8_uc010hyd.1_Missense_Mutation_p.A353T	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	355							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GCCACTGCTGGCCTGGCACTT	0.388000												
ATP13A5	344905	broad.mit.edu	37	3	193080199	193080199	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:193080199C>T	uc011bsq.1	-	5	507	c.507G>A	c.(505-507)TTG>TTA	p.L169L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	169					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGGTCAGACCCAATCCAAATG	0.418000												
UBXN7	26043	broad.mit.edu	37	3	196098766	196098766	+	Splice_Site	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr3:196098766C>T	uc003fwm.3	-	6	690	c.615_splice	c.e6+1	p.Q205_splice	UBXN7_uc003fwn.3_Splice_Site_p.Q57_splice|UBXN7_uc010iae.2_Splice_Site_p.Q43_splice	NM_015562	NP_056377	O94888	UBXN7_HUMAN	UBX domain containing 7								protein binding			ovary(2)|pancreas(1)	3						CTCCTTCTCACCTGCCAGAAA	0.378000												
EVC2	132884	broad.mit.edu	37	4	5627539	5627539	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:5627539C>A	uc003gij.2	-	13	2037	c.1983G>T	c.(1981-1983)AAG>AAT	p.K661N	EVC2_uc011bwb.1_Missense_Mutation_p.K101N|EVC2_uc003gik.2_Missense_Mutation_p.K581N	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	661	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						TCTTTTCCTGCTTTAAGTCAT	0.368000												
EVC	2121	broad.mit.edu	37	4	5803748	5803748	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:5803748G>A	uc003gil.1	+	16	2560	c.2376G>A	c.(2374-2376)GCG>GCA	p.A792A	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	792					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				TGGTGCAGGCGTATTACCAGC	0.607000												
MAN2B2	23324	broad.mit.edu	37	4	6606906	6606906	+	Missense_Mutation	SNP	C	C	T	rs142864633		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:6606906C>T	uc003gjf.1	+	11	1700	c.1664C>T	c.(1663-1665)CCG>CTG	p.P555L	MAN2B2_uc003gje.1_Missense_Mutation_p.P555L|MAN2B2_uc011bwf.1_Missense_Mutation_p.P504L	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	555					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						ACCCAGGAGCCGGCTGCCACT	0.607000												
BOD1L	259282	broad.mit.edu	37	4	13606646	13606646	+	Silent	SNP	T	T	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:13606646T>C	uc003gmz.1	-	10	1995	c.1878A>G	c.(1876-1878)GAA>GAG	p.E626E	BOD1L_uc010idr.1_5'UTR	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	626	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						GTTTACTTGGTTCACTTTTTG	0.343000												
PPARGC1A	10891	broad.mit.edu	37	4	23803856	23803856	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:23803856C>T	uc003gqs.2	-	11	2252	c.2132G>A	c.(2131-2133)CGG>CAG	p.R711Q	PPARGC1A_uc003gqt.2_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	711	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				CCCATCATCCCGCAGATTTAC	0.403000												
GABRA4	2557	broad.mit.edu	37	4	46995377	46995377	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:46995377C>T	uc003gxg.2	-	1	204	c.65G>A	c.(64-66)CGC>CAC	p.R22H		NM_000809	NP_000800	P48169	GBRA4_HUMAN	gamma-aminobutyric acid A receptor, alpha 4	22					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCACAGGAAGCGCAGGAGGGC	0.592000												
ATP10D	57205	broad.mit.edu	37	4	47517498	47517498	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:47517498C>T	uc003gxk.1	+	3	460	c.296C>T	c.(295-297)GCC>GTC	p.A99V	ATP10D_uc003gxj.3_Missense_Mutation_p.A99V	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	99	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						TGCAGAGCTGCCAATTTATAT	0.418000												
YTHDC1	91746	broad.mit.edu	37	4	69184574	69184574	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:69184574A>G	uc003hdx.2	-	13	2044	c.1691T>C	c.(1690-1692)TTA>TCA	p.L564S	YTHDC1_uc003hdy.2_Missense_Mutation_p.L546S	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	564	Arg-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						TGGATCCTTTAAATACCCTGT	0.323000												
NPFFR2	10886	broad.mit.edu	37	4	72897896	72897896	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:72897896C>A	uc003hgg.2	+	1	376	c.278C>A	c.(277-279)GCC>GAC	p.A93D	NPFFR2_uc010iig.1_5'UTR	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	93	Extracellular (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)			GTTCCTGCCGCCGACAGGGCT	0.642000												
FRAS1	80144	broad.mit.edu	37	4	79461950	79461950	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:79461950C>T	uc003hlb.2	+	74	12151	c.11711C>T	c.(11710-11712)GCG>GTG	p.A3904V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3899	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CAGACTGGGGCGTCCATTGGC	0.493000												
SLC10A6	345274	broad.mit.edu	37	4	87744985	87744985	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:87744985G>A	uc003hqd.2	-	6	1138	c.990C>T	c.(988-990)TGC>TGT	p.C330C		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	sodium-dependent organic anion transporter	330	Cytoplasmic (Potential).					integral to membrane|plasma membrane	bile acid:sodium symporter activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TCCTCGTATGGCAGACTTCTG	0.448000												
ABCG2	9429	broad.mit.edu	37	4	89034556	89034556	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:89034556T>C	uc003hrg.2	-	9	1586	c.1093A>G	c.(1093-1095)AAG>GAG	p.K365E	ABCG2_uc003hrh.2_Missense_Mutation_p.K365E|ABCG2_uc003hrf.2_Missense_Mutation_p.K233E	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	365	Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		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)	CTGATCTCCTTGAAGACTGTG	0.443000												
DDIT4L	115265	broad.mit.edu	37	4	101109029	101109029	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:101109029G>A	uc003hvq.2	-	3	590	c.387C>T	c.(385-387)AGC>AGT	p.S129S		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	129					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TAGGTACGACGCTAGAATCAC	0.453000												
C4orf31	79625	broad.mit.edu	37	4	121966924	121966924	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:121966924G>A	uc003idq.1	-	2	596	c.69C>T	c.(67-69)CCC>CCT	p.P23P		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	23											0						CATCCCGGGTGGGTAACTTCT	0.473000												
PCDH10	57575	broad.mit.edu	37	4	134073201	134073201	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:134073201G>A	uc003iha.2	+	1	2732	c.1906G>A	c.(1906-1908)GGG>AGG	p.G636R	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.G636R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	636	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGGCGCACCGGGGAGCTGCG	0.682000												
TLL1	7092	broad.mit.edu	37	4	166986858	166986858	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:166986858G>T	uc003irh.1	+	16	2678	c.2031G>T	c.(2029-2031)GAG>GAT	p.E677D	TLL1_uc011cjn.1_Missense_Mutation_p.E700D|TLL1_uc011cjo.1_Missense_Mutation_p.E501D	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	677	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTATGTGGAGATCTGGAGTG	0.373000												
FAM149A	25854	broad.mit.edu	37	4	187074826	187074826	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:187074826C>T	uc003iyt.3	+	5	693	c.114C>T	c.(112-114)CCC>CCT	p.P38P	FAM149A_uc011cla.1_Silent_p.P38P|FAM149A_uc010isj.2_Silent_p.P38P|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Silent_p.P38P|FAM149A_uc010isl.2_Silent_p.P38P|FAM149A_uc011clb.1_Silent_p.P38P	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	329										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TGATCCTGCCCACTGACAAAG	0.507000												
ZFP42	132625	broad.mit.edu	37	4	188924094	188924094	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:188924094G>A	uc003izg.1	+	3	378	c.133G>A	c.(133-135)GCG>ACG	p.A45T	ZFP42_uc003izh.1_Missense_Mutation_p.A45T|ZFP42_uc003izi.1_Missense_Mutation_p.A45T	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	45					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ACCTGTCAGCGCGGTGTGGGC	0.557000												
NDUFS6	4726	broad.mit.edu	37	5	1814513	1814513	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:1814513C>T	uc003jcy.2	+	3	270	c.247C>T	c.(247-249)CGG>TGG	p.R83W		NM_004553	NP_004544	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6,	83					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)	1					NADH(DB00157)	GGTGGAGACTCGGGTGATAGC	0.507000												
ADCY2	108	broad.mit.edu	37	5	7626396	7626396	+	Silent	SNP	G	G	A	rs149422716		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:7626396G>A	uc003jdz.1	+	4	754	c.687G>A	c.(685-687)TCG>TCA	p.S229S		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	229	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GCATCAAGTCGCGGATCAAGT	0.393000												
DNAH5	1767	broad.mit.edu	37	5	13717570	13717570	+	Missense_Mutation	SNP	C	C	T	rs141993196		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:13717570C>T	uc003jfd.2	-	73	12601	c.12559G>A	c.(12559-12561)GCA>ACA	p.A4187T	DNAH5_uc003jfc.2_Missense_Mutation_p.A355T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4187	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AAAGCCACTGCGTACAGCATG	0.537000									Kartagener_syndrome			
MYO10	4651	broad.mit.edu	37	5	16701576	16701576	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:16701576G>A	uc003jft.3	-	25	3396	c.2928C>T	c.(2926-2928)TGC>TGT	p.C976C	MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Silent_p.C333C|MYO10_uc011cne.1_Silent_p.C333C|MYO10_uc010itx.2_Silent_p.C599C	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	976					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GCTTCTCCTCGCATGCGCTCT	0.592000												
RANBP3L	202151	broad.mit.edu	37	5	36257585	36257585	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:36257585G>A	uc003jkh.2	-	9	1236	c.743C>T	c.(742-744)CCG>CTG	p.P248L	RANBP3L_uc011cow.1_Missense_Mutation_p.P273L	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like isoform 2	248					intracellular transport					ovary(1)	1	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AGGAAATTTCGGAATGGATTT	0.313000												
CMYA5	202333	broad.mit.edu	37	5	79024982	79024982	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:79024982C>T	uc003kgc.2	+	2	466	c.394C>T	c.(394-396)CGG>TGG	p.R132W		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	132						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAAAAGGTTCGGAAAAGGAC	0.408000												
FBN2	2201	broad.mit.edu	37	5	127671202	127671202	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:127671202G>C	uc003kuu.2	-	29	4231	c.3792C>G	c.(3790-3792)TAC>TAG	p.Y1264*	FBN2_uc003kuv.2_Nonsense_Mutation_p.Y1231*	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1264	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCTGCATTCGTAGCTTCCCT	0.438000												
VDAC1	7416	broad.mit.edu	37	5	133311636	133311636	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:133311636A>G	uc003kyp.1	-	7	727	c.628T>C	c.(628-630)TGG>CGG	p.W210R	VDAC1_uc003kyq.1_Missense_Mutation_p.W210R|VDAC1_uc003kyr.1_Missense_Mutation_p.W210R	NM_003374	NP_003365	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	210	Beta stranded.				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CCTGCTGTCCAGGCAAGATTG	0.512000												
SMAD5	4090	broad.mit.edu	37	5	135513027	135513027	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:135513027G>A	uc003lbj.1	+	9	1700	c.1256G>A	c.(1255-1257)GGT>GAT	p.G419D	SMAD5_uc003lbk.1_Missense_Mutation_p.G419D|SMAD5_uc003lbl.1_Missense_Mutation_p.G419D	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	SMAD family member 5	419	MH2.			G->S: Loss of phosphorylation.	BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTTCATAGGGTTGGGGAGCA	0.408000												
CXXC5	51523	broad.mit.edu	37	5	139060342	139060342	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:139060342G>A	uc010jfg.1	+	2	524	c.234G>A	c.(232-234)CCG>CCA	p.P78P	CXXC5_uc003let.2_Silent_p.P78P	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	CXXC finger 5	78					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCCGCCCGCTCTCCCACT	0.637000												
NRG2	9542	broad.mit.edu	37	5	139231209	139231209	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:139231209G>A	uc003lex.1	-	9	1977	c.1752C>T	c.(1750-1752)CGC>CGT	p.R584R	NRG2_uc003lev.1_Silent_p.R592R|NRG2_uc003lew.1_Silent_p.R586R|NRG2_uc003ley.1_Silent_p.R578R	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	584	Cytoplasmic (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGGAGTCGCGAAGGGAGT	0.672000												
PCDHAC2	56134	broad.mit.edu	37	5	140346661	140346661	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:140346661C>T	uc003lii.2	+	1	550	c.310C>T	c.(310-312)CGC>TGC	p.R104C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.R104C	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	104	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCAACGAGCGCATTGATCG	0.667000												
PCDHB10	56126	broad.mit.edu	37	5	140574118	140574118	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:140574118G>A	uc003lix.2	+	1	2167	c.1993G>A	c.(1993-1995)GGC>AGC	p.G665S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	665	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGTGGACGGCTTCTCCCA	0.701000												
PCDHB15	56121	broad.mit.edu	37	5	140627116	140627116	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:140627116C>T	uc003lje.2	+	1	1970	c.1970C>T	c.(1969-1971)ACG>ATG	p.T657M		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	657	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCGCCACGCTGCAAGTG	0.697000												
TAF7	6879	broad.mit.edu	37	5	140699167	140699167	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:140699167G>A	uc003ljg.2	-	1	1185	c.445C>T	c.(445-447)CGG>TGG	p.R149W		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	149					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTCTTCCGGAACCTTCTC	0.398000												
PCDHGA2	56113	broad.mit.edu	37	5	140720916	140720916	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:140720916C>T	uc003ljk.1	+	1	2563	c.2378C>T	c.(2377-2379)GCG>GTG	p.A793V	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.A793V|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	793	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTATCAGCGCCTCAATCT	0.453000												
PCDHGA12	26025	broad.mit.edu	37	5	140812130	140812130	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:140812130G>A	uc003lkt.1	+	1	1973	c.1804G>A	c.(1804-1806)GCC>ACC	p.A602T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A602T	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	602	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCAGAACGCCTGGCTGTC	0.697000												
PDE6A	5145	broad.mit.edu	37	5	149294523	149294523	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:149294523C>A	uc003lrg.3	-	6	1101	c.981G>T	c.(979-981)GAG>GAT	p.E327D		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	327	GAF 2.				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)			CTTTGATGTCCTCTTTGCCAT	0.194000												
KIF4B	285643	broad.mit.edu	37	5	154396439	154396439	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:154396439C>A	uc010jih.1	+	1	3180	c.3020C>A	c.(3019-3021)CCT>CAT	p.P1007H		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1007	Interaction with PRC1 (By similarity).|Globular (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAACATCTTCCTAATGATACC	0.428000												
FAM71B	153745	broad.mit.edu	37	5	156589984	156589984	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:156589984C>A	uc003lwn.2	-	2	1392	c.1292G>T	c.(1291-1293)AGA>ATA	p.R431I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	431						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTTTCTCTTCTTTCCTTGTT	0.498000												
EBF1	1879	broad.mit.edu	37	5	158141123	158141123	+	Splice_Site	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:158141123A>G	uc010jip.2	-	12	1493	c.1191_splice	c.e12+1	p.Q397_splice	EBF1_uc011ddw.1_Splice_Site_p.Q265_splice|EBF1_uc011ddx.1_Splice_Site_p.Q398_splice|EBF1_uc003lxl.3_Splice_Site_p.Q366_splice	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor						multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACAGCGCTCACCTGGTTGTT	0.448000			T	HMGA2	lipoma							
LCP2	3937	broad.mit.edu	37	5	169680150	169680150	+	Silent	SNP	A	A	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:169680150A>C	uc003man.1	-	18	1425	c.1218T>G	c.(1216-1218)CCT>CCG	p.P406P	LCP2_uc011des.1_Silent_p.P201P|LCP2_uc011det.1_Silent_p.P235P	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2	406					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		ATGGGGGCCGAGGTTTGTTTG	0.453000												
CPEB4	80315	broad.mit.edu	37	5	173317108	173317108	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:173317108G>A	uc003mcs.3	+	1	1778	c.372G>A	c.(370-372)TCG>TCA	p.S124S	CPEB4_uc010jju.1_Silent_p.S124S|CPEB4_uc010jjv.2_Silent_p.S124S|CPEB4_uc011dfg.1_Silent_p.S124S|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	124							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACAATTCTTCGGAAAATGGCA	0.453000												
SERPINB6	5269	broad.mit.edu	37	6	2948552	2948552	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:2948552C>T	uc003muk.2	-	6	3106	c.1111G>A	c.(1111-1113)GGC>AGC	p.G371S	SERPINB6_uc003mui.2_Missense_Mutation_p.G254S|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.G371S|SERPINB6_uc003mum.2_Missense_Mutation_p.G371S|SERPINB6_uc003mun.2_Missense_Mutation_p.G371S|SERPINB6_uc003muo.2_Missense_Mutation_p.G371S	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	371					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GAAAAGCGGCCGCAGAAGAGA	0.597000												
HIVEP1	3096	broad.mit.edu	37	6	12164647	12164647	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:12164647G>A	uc003nac.2	+	9	8289	c.8110G>A	c.(8110-8112)GAC>AAC	p.D2704N	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2704					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCACTTCAGCGACGTGAGCAG	0.468000												
BTN3A2	11118	broad.mit.edu	37	6	26370758	26370758	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:26370758C>T	uc010jqh.1	+	5	901	c.642C>T	c.(640-642)TCC>TCT	p.S214S	BTN3A2_uc003nho.1_Silent_p.S212S|BTN3A2_uc003nhp.2_Silent_p.S214S|BTN3A2_uc011dkd.1_Silent_p.S172S|BTN3A2_uc011dke.1_Silent_p.S191S|BTN3A2_uc010jqi.1_Silent_p.S212S	NM_007047	NP_008978	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2 precursor	214	Extracellular (Potential).					integral to membrane					0						GAGGCGGCTCCGGGGAGGGTG	0.547000												
BTN2A2	10385	broad.mit.edu	37	6	26388404	26388404	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:26388404C>T	uc003nhq.2	+	4	692	c.606C>T	c.(604-606)GAC>GAT	p.D202D	BTN2A2_uc011dkf.1_Silent_p.D86D|BTN2A2_uc011dkg.1_Intron|BTN2A2_uc003nhr.2_Silent_p.D86D|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Silent_p.D202D|BTN2A2_uc003nht.2_Silent_p.D202D|BTN2A2_uc011dki.1_5'Flank	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	202	Extracellular (Potential).|Ig-like C2-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						CTGATGCTGACGGCCTCTTCA	0.567000												
HIST1H2BJ	8970	broad.mit.edu	37	6	27100525	27100525	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:27100525G>A	uc003niv.2	-	1	51	c.5C>T	c.(4-6)CCA>CTA	p.P2L	HIST1H2BJ_uc003niu.1_RNA|HIST1H2AG_uc003niw.2_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	histone cluster 1, H2bj	2					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						CGCTGGCTCTGGCATAGCACT	0.522000												
HIST1H1B	3009	broad.mit.edu	37	6	27834673	27834673	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:27834673T>C	uc003njx.2	-	1	687	c.635A>G	c.(634-636)AAA>AGA	p.K212R		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	212					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						AGCTTTAGGTTTTGCTGCTTT	0.547000												
USP49	25862	broad.mit.edu	37	6	41774530	41774530	+	Silent	SNP	C	C	T	rs139392645		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:41774530C>T	uc003ori.2	-	4	414	c.192G>A	c.(190-192)CCG>CCA	p.P64P		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	64	UBP-type.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCATGGCTAGCGGGTGTCCCG	0.582000												
CUL7	9820	broad.mit.edu	37	6	43013989	43013989	+	Missense_Mutation	SNP	C	C	T	rs45574335	byFrequency	TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:43013989C>T	uc003otq.2	-	12	2948	c.2645G>A	c.(2644-2646)CGG>CAG	p.R882Q	CUL7_uc010jyg.2_Missense_Mutation_p.R161Q|CUL7_uc011dvb.1_Missense_Mutation_p.R966Q|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	882	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GAGGATGCCCCGGCGCATGTG	0.612000												
CRISP1	167	broad.mit.edu	37	6	49803156	49803156	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:49803156G>T	uc003ozw.2	-	8	702	c.623C>A	c.(622-624)ACT>AAT	p.T208N	CRISP1_uc003ozx.2_Missense_Mutation_p.D178E	NM_001131	NP_001122	P54107	CRIS1_HUMAN	acidic epididymal glycoprotein-like 1 isoform 1	208					fusion of sperm to egg plasma membrane	extracellular space					0	Lung NSC(77;0.0358)					GCAGGGGTTAGCTGAAAGAAA	0.348000												
LMBRD1	55788	broad.mit.edu	37	6	70423555	70423555	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:70423555G>A	uc003pfa.2	-	9	1012	c.897C>T	c.(895-897)GGC>GGT	p.G299G	LMBRD1_uc003pey.2_Silent_p.G95G|LMBRD1_uc003pez.2_Silent_p.G226G|LMBRD1_uc010kal.2_Silent_p.G226G|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	299	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						GACGCAGAGCGCCACAAAATT	0.393000												
MDN1	23195	broad.mit.edu	37	6	90402780	90402780	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:90402780G>A	uc003pnn.1	-	63	10085	c.9969C>T	c.(9967-9969)TAC>TAT	p.Y3323Y		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3323					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCAGGGACTCGTAGGCAGGCA	0.552000												
C6orf182	285753	broad.mit.edu	37	6	109466443	109466443	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:109466443C>T	uc010kdk.2	+	4	596	c.19C>T	c.(19-21)CAT>TAT	p.H7Y	C6orf182_uc003psv.3_Missense_Mutation_p.H7Y|C6orf182_uc003psw.3_Missense_Mutation_p.H7Y|C6orf182_uc003psx.3_Missense_Mutation_p.H7Y|C6orf182_uc010kdl.2_Missense_Mutation_p.H7Y|C6orf182_uc003psy.3_Missense_Mutation_p.H7Y	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN	hypothetical protein LOC285753	7						microtubule|microtubule organizing center					0		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)		TGAATTAATGCATAGTATAGT	0.338000												
MICAL1	64780	broad.mit.edu	37	6	109771540	109771540	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:109771540C>T	uc003ptj.2	-	7	1408	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H	MICAL1_uc003ptk.2_Missense_Mutation_p.R385H|MICAL1_uc010kdr.2_Intron|MICAL1_uc011eaq.1_Missense_Mutation_p.R404H	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	385					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CAGCAGCAGGCGGGCGCCATG	0.617000												
RSPO3	84870	broad.mit.edu	37	6	127440347	127440347	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:127440347C>T	uc003qar.2	+	1	300	c.10C>T	c.(10-12)CGA>TGA	p.R4*	uc003qaq.1_Intron|RSPO3_uc003qas.1_Nonsense_Mutation_p.R4*	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	R-spondin 3 precursor	4						extracellular region	heparin binding				0				GBM - Glioblastoma multiforme(226;0.0555)		TATGCACTTGCGACTGATTTC	0.398000												
TCF21	6943	broad.mit.edu	37	6	134210545	134210545	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:134210545G>A	uc003qei.3	+	1	286	c.10G>A	c.(10-12)GGC>AGC	p.G4S	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.G4S	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	4					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CATGTCCACCGGCTCCCTCAG	0.343000												
ALDH8A1	64577	broad.mit.edu	37	6	135239833	135239833	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:135239833G>T	uc003qew.2	-	7	1237	c.1184C>A	c.(1183-1185)CCA>CAA	p.P395Q	ALDH8A1_uc003qex.2_Missense_Mutation_p.P341Q|ALDH8A1_uc010kgh.2_Missense_Mutation_p.P173Q|ALDH8A1_uc011ecx.1_Missense_Mutation_p.P345Q	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	395					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACACGTCACTGGACCAAATAT	0.512000												
MYCT1	80177	broad.mit.edu	37	6	153043061	153043061	+	Silent	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:153043061C>A	uc003qpd.3	+	2	389	c.381C>A	c.(379-381)CGC>CGA	p.R127R	MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Silent_p.R127R	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	127						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GATTTTACCGCCACAGTGGCT	0.512000												
IPCEF1	26034	broad.mit.edu	37	6	154520863	154520863	+	Silent	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:154520863A>G	uc003qpx.2	-	10	1002	c.846T>C	c.(844-846)AGT>AGC	p.S282S	OPRM1_uc003qpt.1_Intron|IPCEF1_uc003qpv.2_Silent_p.S153S|IPCEF1_uc003qpw.2_Silent_p.S283S|IPCEF1_uc010kjh.2_Silent_p.S283S	NM_015553	NP_056368	Q8WWN9	ICEF1_HUMAN	phosphoinositide-binding protein PIP3-E isoform	282	Ser-rich.				response to oxidative stress	cytoplasm|plasma membrane	oxygen transporter activity|peroxidase activity				0						CATGATTGCTACTCAATGAAG	0.393000												
ARID1B	57492	broad.mit.edu	37	6	157222537	157222537	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:157222537G>A	uc003qqn.2	+	3	1743	c.1591G>A	c.(1591-1593)GTG>ATG	p.V531M	ARID1B_uc003qqo.2_Missense_Mutation_p.V544M|ARID1B_uc003qqp.2_Missense_Mutation_p.V531M	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	589	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACAGCAAGGTGTGAGTGGTTA	0.502000												
IGF2R	3482	broad.mit.edu	37	6	160468929	160468929	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:160468929G>A	uc003qta.2	+	17	2483	c.2335G>A	c.(2335-2337)GAC>AAC	p.D779N		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	779	5.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GGAGCAGTACGACCTCTCCAG	0.577000												
LPA	4018	broad.mit.edu	37	6	161006078	161006078	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:161006078G>A	uc003qtl.2	-	27	4409	c.4289C>T	c.(4288-4290)GCT>GTT	p.A1430V		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3938	Kringle 35.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAGACATACGCATTTGGATA	0.433000												
PARK2	5071	broad.mit.edu	37	6	161781145	161781145	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr6:161781145G>A	uc003qtx.3	-	11	1394	c.1260C>T	c.(1258-1260)CGC>CGT	p.R420R	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Silent_p.R229R|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Silent_p.R392R|PARK2_uc003qtz.3_Silent_p.R271R|PARK2_uc011egf.1_Silent_p.R94R	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	420	RING-type 2.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTACATGGCAGCGGGGACAGG	0.458000												
SUN1	23353	broad.mit.edu	37	7	892494	892494	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:892494G>A	uc011jvp.1	+	10	1037	c.958G>A	c.(958-960)GTG>ATG	p.V320M	GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.V237M|SUN1_uc011jvq.1_Missense_Mutation_p.V217M|SUN1_uc003sjg.2_Missense_Mutation_p.V225M|SUN1_uc011jvr.1_Missense_Mutation_p.V129M|SUN1_uc003sji.2_Missense_Mutation_p.V158M|SUN1_uc003sjk.2_Translation_Start_Site	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	347	Perinuclear space.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						GTTCTTGCCCGTGTTGAACTG	0.532000												
SDK1	221935	broad.mit.edu	37	7	4185509	4185509	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:4185509G>A	uc003smx.2	+	29	4523	c.4384G>A	c.(4384-4386)GAG>AAG	p.E1462K	SDK1_uc010kso.2_Missense_Mutation_p.E738K|SDK1_uc003smy.2_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1462	Fibronectin type-III 8.				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)		GGGCTGGGGGGAGCCACTGGA	0.642000												
USP42	84132	broad.mit.edu	37	7	6187480	6187480	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:6187480C>T	uc011jwo.1	+	12	1466	c.1343C>T	c.(1342-1344)GCG>GTG	p.A448V	USP42_uc010kth.1_Missense_Mutation_p.A381V|USP42_uc011jwp.1_Missense_Mutation_p.A448V|USP42_uc011jwq.1_Missense_Mutation_p.A255V|USP42_uc011jwr.1_Missense_Mutation_p.A293V	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	448					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AAACAGGCTGCGCCAGGCTTT	0.478000												
DAGLB	221955	broad.mit.edu	37	7	6485687	6485687	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:6485687G>A	uc003sqa.2	-	2	314	c.144C>T	c.(142-144)GAC>GAT	p.D48D	DAGLB_uc011jwu.1_Silent_p.D48D|DAGLB_uc003sqb.2_Intron|DAGLB_uc003sqc.2_5'UTR|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.D7D|DAGLB_uc011jww.1_RNA	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	48	Extracellular (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CACCAGCACAGTCCAGCTTTC	0.473000												
AGR3	155465	broad.mit.edu	37	7	16900207	16900207	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:16900207T>C	uc003sts.2	-	7	441	c.368A>G	c.(367-369)GAC>GGC	p.D123G		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	breast cancer membrane protein 11 precursor	123						extracellular region					0	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TAAAGAAGGGTCTGTCAAGGA	0.303000												
SP4	6671	broad.mit.edu	37	7	21521594	21521594	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:21521594T>C	uc003sva.2	+	5	2141	c.1960T>C	c.(1960-1962)TGT>CGT	p.C654R	SP4_uc003svb.2_Missense_Mutation_p.C341R	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	654	C2H2-type 1.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						TATTGAAGGATGTGGTAAAGT	0.378000												
DNAH11	8701	broad.mit.edu	37	7	21779241	21779241	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:21779241G>A	uc003svc.2	+	49	7916	c.7885G>A	c.(7885-7887)GCC>ACC	p.A2629T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2629	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CCAGTATGTCGCCTGCATGAA	0.423000									Kartagener_syndrome			
DNAH11	8701	broad.mit.edu	37	7	21923928	21923928	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:21923928G>A	uc003svc.2	+	77	12459	c.12428G>A	c.(12427-12429)CGT>CAT	p.R4143H		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4143					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GAAGATCTCCGTTATCTCTTT	0.488000									Kartagener_syndrome			
OSBPL3	26031	broad.mit.edu	37	7	24901354	24901354	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:24901354T>C	uc003sxf.2	-	10	1310	c.905A>G	c.(904-906)CAC>CGC	p.H302R	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.H302R|OSBPL3_uc003sxh.2_Missense_Mutation_p.H271R|OSBPL3_uc003sxi.2_Missense_Mutation_p.H271R|OSBPL3_uc003sxj.1_Missense_Mutation_p.H67R|OSBPL3_uc003sxk.1_Missense_Mutation_p.H36R	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	302					lipid transport		lipid binding|protein binding			skin(1)	1						ATTGGAGGAGTGTAGTCTTAC	0.368000												
SFRP4	6424	broad.mit.edu	37	7	37951870	37951870	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:37951870G>A	uc003tfo.3	-	4	1028	c.642C>T	c.(640-642)GTC>GTT	p.V214V		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	214	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						CCACCGTTGTGACCTCATTGC	0.418000												
NPC1L1	29881	broad.mit.edu	37	7	44579712	44579712	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:44579712T>A	uc003tlb.2	-	2	340	c.284A>T	c.(283-285)CAG>CTG	p.Q95L	NPC1L1_uc003tlc.2_Missense_Mutation_p.Q95L|NPC1L1_uc011kbw.1_Missense_Mutation_p.Q95L|NPC1L1_uc003tld.2_Missense_Mutation_p.Q95L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	95	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	TGATACCAGCTGCTTGGCGGA	0.597000												
PKD1L1	168507	broad.mit.edu	37	7	47968815	47968815	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:47968815T>C	uc003tny.1	-	7	1046	c.1046A>G	c.(1045-1047)CAC>CGC	p.H349R		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	349	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						TGAGTACTGGTGGTAGGCAGT	0.522000												
ABCA13	154664	broad.mit.edu	37	7	48391962	48391962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:48391962C>A	uc003toq.2	+	31	10591	c.10566C>A	c.(10564-10566)TAC>TAA	p.Y3522*	ABCA13_uc010kys.1_Nonsense_Mutation_p.Y596*|ABCA13_uc003tos.1_Nonsense_Mutation_p.Y348*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3522					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AATATAACTACGTCTTTGCCC	0.502000												
AKAP9	10142	broad.mit.edu	37	7	91694563	91694563	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:91694563A>G	uc003ulg.2	+	25	6221	c.5996A>G	c.(5995-5997)GAA>GGA	p.E1999G	AKAP9_uc003ulf.2_Missense_Mutation_p.E1999G|AKAP9_uc003uli.2_Missense_Mutation_p.E1622G	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2011	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGGAGACAGAAAAATTAATG	0.289000			T	BRAF	papillary thyroid							
ZAN	7455	broad.mit.edu	37	7	100348417	100348417	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:100348417G>A	uc003uwj.2	+	12	1584	c.1419G>A	c.(1417-1419)GCG>GCA	p.A473A	ZAN_uc003uwk.2_Silent_p.A473A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	473	MAM 3.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAAGTCCTGCGGGGAGTCCCC	0.622000												
SLC26A4	5172	broad.mit.edu	37	7	107303837	107303837	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:107303837C>T	uc003vep.2	+	3	485	c.261C>T	c.(259-261)GAC>GAT	p.D87D	LOC286002_uc003veo.3_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	87	Cytoplasmic (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						TGCTTAGTGACGTCATTTCGG	0.498000									Pendred_syndrome			
DOCK4	9732	broad.mit.edu	37	7	111368486	111368486	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:111368486C>T	uc003vfx.2	-	52	6014	c.5745G>A	c.(5743-5745)CCG>CCA	p.P1915P	DOCK4_uc011kml.1_Silent_p.P796P|DOCK4_uc011kmm.1_Silent_p.P784P|DOCK4_uc003vfw.2_Silent_p.P1327P|DOCK4_uc003vfy.2_Silent_p.P1960P|DOCK4_uc003vfv.2_Silent_p.P228P	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1915	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TGTGAGGTAGCGGGACGGGGC	0.716000												
PLXNA4	91584	broad.mit.edu	37	7	131830026	131830026	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:131830026C>T	uc003vra.3	-	29	5306	c.5077G>A	c.(5077-5079)GAT>AAT	p.D1693N	PLXNA4_uc003vqz.3_5'UTR	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1693	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						AAGAGGTCATCCACAAACTTC	0.537000												
OR2A5	393046	broad.mit.edu	37	7	143747978	143747978	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:143747978C>T	uc011ktw.1	+	1	484	c.484C>T	c.(484-486)CTC>TTC	p.L162F		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	162	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)					CCATGTGGTTCTCATCCTGAG	0.537000												
OR2A25	392138	broad.mit.edu	37	7	143772113	143772113	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:143772113G>T	uc011ktx.1	+	1	801	c.801G>T	c.(799-801)AAG>AAT	p.K267N		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					AGAGCCCCAAGGAGCAGAAGA	0.463000												
GIMAP6	474344	broad.mit.edu	37	7	150325544	150325544	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr7:150325544T>C	uc003whn.2	-	3	566	c.142A>G	c.(142-144)AAA>GAA	p.K48E	GIMAP6_uc003whm.2_Intron	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	48	GTP (Potential).						GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCCTGTTTTCCCCATGAGA	0.532000												
SGK223	157285	broad.mit.edu	37	8	8176049	8176049	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:8176049C>T	uc003wsh.3	-	5	3836	c.3836G>A	c.(3835-3837)CGG>CAG	p.R1279Q		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1279	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GTCCTCCTGCCGGTAGTCTCT	0.647000												
GNRH1	2796	broad.mit.edu	37	8	25280807	25280807	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:25280807G>T	uc003xem.3	-	2	881	c.40C>A	c.(40-42)CTG>ATG	p.L14M	PPP2R2A_uc003xek.2_Intron|GNRH1_uc003xen.3_Missense_Mutation_p.L14M	NM_001083111	NP_001076580	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 precursor	14					cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		CACCAAGTCAGTAGAATAAGG	0.443000												
DUSP26	78986	broad.mit.edu	37	8	33449592	33449592	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:33449592C>T	uc003xjp.2	-	4	908	c.575G>A	c.(574-576)CGG>CAG	p.R192Q	DUSP26_uc003xjq.2_Missense_Mutation_p.R192Q	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26	192	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CAGGAAGCCCCGGTTGGGGAT	0.647000												
PXDNL	137902	broad.mit.edu	37	8	52321502	52321502	+	Silent	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:52321502G>A	uc003xqu.3	-	17	2783	c.2682C>T	c.(2680-2682)ATC>ATT	p.I894I	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	894					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGAGCCATCGATGTAGGCTG	0.622000												
XKR4	114786	broad.mit.edu	37	8	56436682	56436682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:56436682C>T	uc003xsf.2	+	3	1881	c.1849C>T	c.(1849-1851)CGA>TGA	p.R617*		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	617						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			CCGAAGCCTCCGAAAGGCTAT	0.458000												
CSMD3	114788	broad.mit.edu	37	8	113702268	113702268	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:113702268C>A	uc003ynu.2	-	14	2143	c.1984G>T	c.(1984-1986)GAA>TAA	p.E662*	CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Nonsense_Mutation_p.E622*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.E558*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	662	Extracellular (Potential).|Sushi 3.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCACAACTTTCTTTCTCAATT	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
SLC45A4	57210	broad.mit.edu	37	8	142228927	142228927	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:142228927G>A	uc003ywd.1	-	4	967	c.659C>T	c.(658-660)GCC>GTC	p.A220V	SLC45A4_uc003ywc.1_Missense_Mutation_p.A220V|SLC45A4_uc010meq.1_Missense_Mutation_p.A218V	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	271					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCCATCCAGGGCGCCGGGCTC	0.687000												
PLEC	5339	broad.mit.edu	37	8	144990986	144990986	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr8:144990986C>T	uc003zaf.1	-	32	13584	c.13414G>A	c.(13414-13416)GCC>ACC	p.A4472T	PLEC_uc003zab.1_Missense_Mutation_p.A4335T|PLEC_uc003zac.1_Missense_Mutation_p.A4339T|PLEC_uc003zad.2_Missense_Mutation_p.A4335T|PLEC_uc003zae.1_Missense_Mutation_p.A4303T|PLEC_uc003zag.1_Missense_Mutation_p.A4313T|PLEC_uc003zah.2_Missense_Mutation_p.A4321T|PLEC_uc003zaj.2_Missense_Mutation_p.A4362T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4472	Globular 2.|Plectin 30.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TTGTTGACGGCGTCGGTGACA	0.647000												
FREM1	158326	broad.mit.edu	37	9	14859271	14859271	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:14859271G>A	uc003zlm.2	-	4	1131	c.541C>T	c.(541-543)CGG>TGG	p.R181W	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	181					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTGGCAGCCGAGTTCTCGCA	0.527000												
MLLT3	4300	broad.mit.edu	37	9	20620722	20620722	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:20620722T>C	uc003zoe.2	-	2	383	c.124A>G	c.(124-126)AGT>GGT	p.S42G	MLLT3_uc011lne.1_Missense_Mutation_p.S10G|MLLT3_uc011lnf.1_Missense_Mutation_p.S39G|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.S10G	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	42	YEATS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGTATGTTACTGTGCTCCGGA	0.542000			T	MLL	ALL							
TAF1L	138474	broad.mit.edu	37	9	32634323	32634323	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:32634323C>T	uc003zrg.1	-	1	1345	c.1255G>A	c.(1255-1257)GAA>AAA	p.E419K	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	419					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGGAAGTTTTCGTCAGCCAGA	0.443000												
FRMPD1	22844	broad.mit.edu	37	9	37740286	37740286	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:37740286C>T	uc004aag.1	+	15	1805	c.1761C>T	c.(1759-1761)TCC>TCT	p.S587S	FRMPD1_uc004aah.1_Silent_p.S587S|FRMPD1_uc011lqm.1_Silent_p.S409S|FRMPD1_uc011lqn.1_Silent_p.S456S	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	587						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		GTGCCGAGTCCGAGGCGTCCG	0.637000												
NTRK2	4915	broad.mit.edu	37	9	87339221	87339221	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:87339221C>T	uc004aoa.1	+	10	1741	c.803C>T	c.(802-804)GCG>GTG	p.A268V	NTRK2_uc004anv.1_Missense_Mutation_p.A268V|NTRK2_uc004any.1_Missense_Mutation_p.A268V|NTRK2_uc004anz.1_Missense_Mutation_p.A268V|NTRK2_uc011lsz.1_Missense_Mutation_p.A268V|NTRK2_uc011lta.1_Missense_Mutation_p.A268V|NTRK2_uc004aob.1_Missense_Mutation_p.A268V|NTRK2_uc011ltb.1_Missense_Mutation_p.A112V	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	268	Extracellular (Potential).|Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						TCTTGTGTGGCGGAAAATCTT	0.408000										TSP Lung(25;0.17)		
NTRK2	4915	broad.mit.edu	37	9	87549188	87549188	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:87549188A>C	uc004aoa.1	+	16	2635	c.1697A>C	c.(1696-1698)AAG>ACG	p.K566T	NTRK2_uc004any.1_Missense_Mutation_p.K566T|NTRK2_uc004anz.1_Missense_Mutation_p.K582T	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	566	Protein kinase.|Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						GAGCAGGACAAGATCTTGGTG	0.403000										TSP Lung(25;0.17)		
BICD2	23299	broad.mit.edu	37	9	95491364	95491364	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:95491364A>G	uc004aso.1	-	2	452	c.395T>C	c.(394-396)CTC>CCC	p.L132P	BICD2_uc004asp.1_Missense_Mutation_p.L132P	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	132	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						CGTGTTGGTGAGGACATTGCG	0.627000												
PTCH1	5727	broad.mit.edu	37	9	98278952	98278952	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:98278952C>T	uc004avm.3	-	1	296	c.151G>A	c.(151-153)GGA>AGA	p.G51R	PTCH1_uc010mrr.2_5'UTR|PTCH1_uc004avo.2_5'UTR|PTCH1_uc010mrv.1_RNA|PTCH1_uc010mrw.1_RNA	NM_001083603	NP_001077072	Q13635	PTC1_HUMAN	patched isoform L'	Error:Variant_position_missing_in_Q13635_after_alignment					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)				ttttcttctcctccgttttct	0.468000									Basal_Cell_Nevus_syndrome			
NR4A3	8013	broad.mit.edu	37	9	102590482	102590482	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:102590482C>T	uc004baf.1	+	3	887	c.158C>T	c.(157-159)ACG>ATG	p.T53M	NR4A3_uc004bae.2_Missense_Mutation_p.T53M|NR4A3_uc004bag.1_Missense_Mutation_p.T53M|NR4A3_uc004bai.2_Missense_Mutation_p.T64M	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	53					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ACAGCCACCACGTCCCTGCCC	0.557000			T	EWSR1	extraskeletal myxoid chondrosarcoma							
NIPSNAP3B	55335	broad.mit.edu	37	9	107533147	107533147	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:107533147G>T	uc004bci.2	+	4	519	c.448G>T	c.(448-450)GTT>TTT	p.V150F	NIPSNAP3A_uc011lvu.1_Intron|NIPSNAP3B_uc004bcj.1_RNA	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B	150										pancreas(1)|skin(1)	2						TGAACTAGCTGTTTTTCAGAT	0.383000												
GAPVD1	26130	broad.mit.edu	37	9	128064646	128064646	+	Silent	SNP	T	T	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:128064646T>C	uc010mwx.2	+	5	896	c.570T>C	c.(568-570)TTT>TTC	p.F190F	GAPVD1_uc004bpo.2_Silent_p.F190F|GAPVD1_uc011lzs.1_Silent_p.F190F|GAPVD1_uc004bpp.2_Silent_p.F190F|GAPVD1_uc004bpq.2_Silent_p.F190F|GAPVD1_uc004bpr.2_Silent_p.F190F|GAPVD1_uc004bps.2_Silent_p.F190F|GAPVD1_uc010mwy.1_Silent_p.F49F	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	190	Ras-GAP.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AAGGACTGTTTTCTGCCAAAC	0.388000												
ANAPC2	29882	broad.mit.edu	37	9	140074684	140074684	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:140074684C>A	uc004clr.1	-	10	1912	c.1839G>T	c.(1837-1839)GAG>GAT	p.E613D	ANAPC2_uc004clq.1_Missense_Mutation_p.E469D	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	613					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCCTGATATCCTCGGGGACCT	0.622000												
PRKX	5613	broad.mit.edu	37	X	3573440	3573440	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:3573440G>A	uc010nde.2	-	3	716	c.349C>T	c.(349-351)CAT>TAT	p.H117Y		NM_005044	NP_005035	P51817	PRKX_HUMAN	protein kinase, X-linked	117	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			skin(2)|lung(1)	3		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CGCTCGTCATGCCACGTCCAG	0.657000												
DMD	1756	broad.mit.edu	37	X	31191669	31191669	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:31191669G>T	uc004dda.1	-	72	10559	c.10315C>A	c.(10315-10317)CAT>AAT	p.H3439N	DMD_uc004dcq.1_Missense_Mutation_p.H710N|DMD_uc004dcr.1_Intron|DMD_uc004dcs.1_Intron|DMD_uc004dct.1_Missense_Mutation_p.H979N|DMD_uc004dcu.1_Missense_Mutation_p.H979N|DMD_uc004dcv.1_Missense_Mutation_p.H966N|DMD_uc004dcw.2_Missense_Mutation_p.H2095N|DMD_uc004dcx.2_Missense_Mutation_p.H2098N|DMD_uc004dcz.2_Missense_Mutation_p.H3316N|DMD_uc004dcy.1_Missense_Mutation_p.H3435N|DMD_uc004ddb.1_Missense_Mutation_p.H3431N|DMD_uc004dcm.1_Missense_Mutation_p.H371N|DMD_uc004dcn.1_Missense_Mutation_p.H358N|DMD_uc004dco.1_Missense_Mutation_p.H371N|DMD_uc004dcp.1_Missense_Mutation_p.H358N|DMD_uc011mkb.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3439					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTAGCATAATGTTCAATGCGT	0.378000												
FAM47A	158724	broad.mit.edu	37	X	34149433	34149433	+	Silent	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:34149433C>T	uc004ddg.2	-	1	996	c.963G>A	c.(961-963)CCG>CCA	p.P321P		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	321										ovary(4)|central_nervous_system(1)	5						GACTGGACACCGGAGTCTTGG	0.612000												
CDK16	5127	broad.mit.edu	37	X	47088011	47088011	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:47088011C>T	uc004dho.2	+	15	1817	c.1421C>T	c.(1420-1422)GCC>GTC	p.A474V	CDK16_uc011mli.1_Missense_Mutation_p.A480V|CDK16_uc011mlk.1_Missense_Mutation_p.A481V|CDK16_uc011mll.1_Missense_Mutation_p.A548V	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	474							ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						CAAAAGGAGGCCAGCCTTCGG	0.537000												
MSN	4478	broad.mit.edu	37	X	64947739	64947739	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:64947739G>A	uc004dwf.2	+	3	358	c.160G>A	c.(160-162)GGT>AGT	p.G54S	MSN_uc010nkp.1_RNA	NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	54	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						GGACACTAAAGGTTTCTCCAC	0.378000			T	ALK	ALCL							
MSN	4478	broad.mit.edu	37	X	64959699	64959699	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:64959699C>T	uc004dwf.2	+	13	1876	c.1678C>T	c.(1678-1680)CGC>TGC	p.R560C		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	560					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						CAAGACCCTGCGCCAGATCCG	0.542000			T	ALK	ALCL							
HEPH	9843	broad.mit.edu	37	X	65476119	65476119	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:65476119C>T	uc011moz.1	+	17	2912	c.2852C>T	c.(2851-2853)CCA>CTA	p.P951L	HEPH_uc004dwn.2_Missense_Mutation_p.P951L|HEPH_uc004dwo.2_Missense_Mutation_p.P681L|HEPH_uc010nkr.2_Missense_Mutation_p.P759L|HEPH_uc011mpa.1_Missense_Mutation_p.P951L|HEPH_uc010nks.2_Missense_Mutation_p.P240L	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	948	Extracellular (Potential).|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						TCCCAGGATCCAGGCAGTATT	0.408000												
MAGEE1	57692	broad.mit.edu	37	X	75650837	75650837	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:75650837G>C	uc004ecm.1	+	1	2721	c.2514G>C	c.(2512-2514)TTG>TTC	p.L838F		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	838	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						ACAACTTTTTGATGCAGGTCC	0.502000												
ATP7A	538	broad.mit.edu	37	X	77245353	77245353	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:77245353T>C	uc004ecx.3	+	4	1395	c.1235T>C	c.(1234-1236)CTT>CCT	p.L412P	ATP7A_uc004ecw.2_Missense_Mutation_p.L412P	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	412	HMA 4.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						CGAGTCTCCCTTGCAAATAGC	0.418000												
P2RY10	27334	broad.mit.edu	37	X	78216864	78216864	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:78216864G>A	uc004ede.2	+	4	1216	c.847G>A	c.(847-849)GCA>ACA	p.A283T	P2RY10_uc004edf.2_Missense_Mutation_p.A283T	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	283	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						TGTCCGAATCGCACTGTATTT	0.413000												
TBX22	50945	broad.mit.edu	37	X	79279618	79279618	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:79279618A>G	uc010nmg.1	+	4	547	c.413A>G	c.(412-414)TAC>TGC	p.Y138C	TBX22_uc004edi.1_Missense_Mutation_p.Y18C|TBX22_uc004edj.1_Missense_Mutation_p.Y138C	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	138	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						GGGAAGCAGTACCATGTGGCC	0.507000												
CPXCR1	53336	broad.mit.edu	37	X	88008424	88008424	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:88008424T>A	uc004efd.3	+	3	268	c.9T>A	c.(7-9)TAT>TAA	p.Y3*	CPXCR1_uc004efc.3_Nonsense_Mutation_p.Y3*	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	3						intracellular	zinc ion binding			ovary(3)	3						GGATGAGTTATCCTACTAAAG	0.353000												
TGIF2LX	90316	broad.mit.edu	37	X	89177431	89177431	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:89177431G>A	uc004efe.2	+	2	396	c.347G>A	c.(346-348)CGT>CAT	p.R116H		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CTTCAACAGCGTAGAAACGAC	0.522000												
HTATSF1	27336	broad.mit.edu	37	X	135581814	135581814	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:135581814G>A	uc004ezw.2	+	3	666	c.244G>A	c.(244-246)GCA>ACA	p.A82T	HTATSF1_uc004ezx.2_Missense_Mutation_p.A82T	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	82					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TAACGATGGCGCATCTAGTTC	0.448000												
FMR1	2332	broad.mit.edu	37	X	147026475	147026475	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:147026475G>A	uc010nst.2	+	15	1747	c.1558G>A	c.(1558-1560)GAA>AAA	p.E520K	FMR1_uc004fcj.2_Missense_Mutation_p.E497K|FMR1_uc004fck.3_Missense_Mutation_p.E474K|FMR1_uc004fcl.3_Missense_Mutation_p.E360K|FMR1_uc011mxa.1_Missense_Mutation_p.E167K	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	520	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAACAGAGGAAGAGAGGGA	0.373000									Fragile_X_syndrome			
ATP2B3	492	broad.mit.edu	37	X	152823642	152823642	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chrX:152823642G>A	uc004fht.1	+	15	2632	c.2506G>A	c.(2506-2508)GTC>ATC	p.V836I	ATP2B3_uc004fhs.1_Missense_Mutation_p.V836I|ATP2B3_uc010nuf.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	836	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCAGCATCGTCAAGGCAGT	0.572000												
CLK3	1198	broad.mit.edu	37	15	74918311	74918312	+	Splice_Site	INS	-	-	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:74918310_74918311G>GT	uc010uln.2	+	7	1722	c.1261_splice	c.e7+1	p.F421_splice	CLK3_uc002ayg.4_Splice_Site_p.F273_splice|CLK3_uc002ayh.4_Splice_Site_p.F52_splice|CLK3_uc002ayj.4_Splice_Site_p.F250_splice|CLK3_uc002ayk.4_Splice_Site_p.F200_splice|CLK3_uc002ayl.4_Splice_Site_p.F106_splice	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	421	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GCCCTTAGATGTAAGTGTCCAC	0.515												
MSH2	4436	broad.mit.edu	37	2	47630387	47630387	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:47630387delC	uc002rvy.1	+	1	125	c.57delC	c.(55-57)TTCfs	p.F19fs	MSH2_uc010yoh.1_Intron|MSH2_uc002rvz.2_Frame_Shift_Del_p.F19fs|MSH2_uc010fbf.1_Frame_Shift_Del_p.F19fs	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	19					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding			large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGTCGGCTTCGTGCGCTTCT	0.647			D|Mis|N|F|S		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
WDR78	79819	broad.mit.edu	37	1	67292680	67292681	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:67292679_67292680T>TA	uc001dcx.3	-	14	2218_2219	c.2162_2163A>TA	c.(2161-2163)ttafs	p.L721fs	WDR78_uc009waw.3_Frame_Shift_Ins_p.L434fs|WDR78_uc009wax.3_Non-coding_Transcript	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	721										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CAGAACAGCTTAAAAATACATC	0.327												
PKLR	5313	broad.mit.edu	37	1	155264957	155264957	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr1:155264956_155264956GC>G	uc001fkb.4	-	4	684	c.645_645GC>C	c.(643-645)ggcfs	p.G215fs	PKLR_uc001fka.4_Frame_Shift_Del_p.G184fs	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	215					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TGTAGATGCGGCCCCCCACCG	0.657												
FOSL2	2355	broad.mit.edu	37	2	28634855	28634860	+	In_Frame_Del	DEL	AGAAGG	AGAAGG	-			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr2:28634854_28634859CAGAAGG>C	uc002rma.3	+	3	1329_1334	c.520_525CAGAAGG>C	c.(520-525)cagaag>C	p.QK174del	FOSL2_uc021vfg.1_In_Frame_Del_p.QK166del|FOSL2_uc010ymi.2_In_Frame_Del_p.QK135del	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	174	Leucine-zipper.				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGCTGAGCTGCAGAAGGAGAAGGAGA	0.617												
POLQ	10721	broad.mit.edu	37	3	121207489	121207489	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	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)				
TRAM1L1	133022	broad.mit.edu	37	4	118005517	118005517	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr4:118005516_118005516CT>C	uc003ibv.4	-	0	1221	c.1034_1034AG>G	c.(1033-1035)agafs	p.R345fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	345					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTCTGTTCTTTTTTTAGA	0.388												
CDH10	1008	broad.mit.edu	37	5	24492973	24492974	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr5:24492972_24492973G>GA	uc003jgr.2	-	9	2083_2084	c.1577_1578C>TC	c.(1576-1578)ttcfs	p.F526fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F525V(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CAGCTAAACTGAAAAAAAATTT	0.317										HNSCC(23;0.051)		
FOXD4	2298	broad.mit.edu	37	9	117070	117070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr9:117069_117069AG>A	uc003zfz.3	-	0	1349	c.1051_1051CT>T	c.(1051-1053)tgcfs	p.C351fs		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	351					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCGCTGGAGCAGGGGGCAGTA	0.627												
PTEN	5728	broad.mit.edu	37	10	89717770	89717770	+	Frame_Shift_Del	DEL	A	A	-	rs121913289		TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr10:89717769_89717769TA>T	uc001kfb.3	+	6	1826	c.794_794TA>T	c.(793-795)ctafs	p.L265fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	265	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.M264fs*8(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACAAGATGCTAAAAAAGGTT	0.348		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
CTNND1	1500	broad.mit.edu	37	11	57577664	57577664	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:57577663_57577663GA>G	uc001nmc.4	+	15	3089	c.2518_2518GA>G	c.(2518-2520)gaafs	p.E840fs	CTNND1_uc001nlf.2_Frame_Shift_Del_p.E840fs|CTNND1_uc021qjk.1_Frame_Shift_Del_p.E834fs|CTNND1_uc001nlh.1_Frame_Shift_Del_p.E840fs|CTNND1_uc001nlj.4_Frame_Shift_Del_p.E780fs|CTNND1_uc001nlq.4_Frame_Shift_Del_p.E739fs|CTNND1_uc001nlr.4_Frame_Shift_Del_p.E780fs|CTNND1_uc001nln.4_Frame_Shift_Del_p.E834fs|CTNND1_uc001nli.4_Frame_Shift_Del_p.E834fs|CTNND1_uc001nlo.4_Frame_Shift_Del_p.E733fs|CTNND1_uc001nlp.4_Frame_Shift_Del_p.E780fs|CTNND1_uc001nlu.4_Frame_Shift_Del_p.E733fs|CTNND1_uc001nlt.4_Frame_Shift_Del_p.E733fs|CTNND1_uc001nlv.4_Frame_Shift_Del_p.E733fs|CTNND1_uc001nls.4_Frame_Shift_Del_p.E733fs|CTNND1_uc001nlw.4_Frame_Shift_Del_p.E733fs|CTNND1_uc001nmf.4_Frame_Shift_Del_p.E840fs|CTNND1_uc001nlx.4_Frame_Shift_Del_p.E517fs|CTNND1_uc001nlz.4_Frame_Shift_Del_p.E517fs|CTNND1_uc009ymn.3_Frame_Shift_Del_p.E511fs|CTNND1_uc001nly.4_Frame_Shift_Del_p.E511fs|CTNND1_uc001nmb.4_Frame_Shift_Del_p.E511fs|CTNND1_uc001nma.4_Frame_Shift_Del_p.E511fs|CTNND1_uc001nmd.4_Frame_Shift_Del_p.E786fs|CTNND1_uc001nlk.4_Frame_Shift_Del_p.E786fs|CTNND1_uc001nme.4_Frame_Shift_Del_p.E834fs|CTNND1_uc001nll.4_Frame_Shift_Del_p.E780fs|CTNND1_uc001nlm.4_Frame_Shift_Del_p.E834fs|CTNND1_uc001nmi.4_Frame_Shift_Del_p.E739fs|CTNND1_uc001nmg.4_Frame_Shift_Del_p.E780fs|CTNND1_uc001nmh.4_Frame_Shift_Del_p.E834fs	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	840					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GAAGCCACTGGAAAAAGAAGG	0.398												
NLRX1	79671	broad.mit.edu	37	11	119044381	119044381	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr11:119044380_119044380TC>T	uc001pvu.3	+	4	637	c.422_422TC>T	c.(421-423)ctcfs	p.L141fs	NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.3_Frame_Shift_Del_p.L141fs|NLRX1_uc001pvw.3_Frame_Shift_Del_p.L141fs|NLRX1_uc001pvx.3_Frame_Shift_Del_p.L141fs	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	141	Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CAGGCCGGGCTCCCCCCACTG	0.657												
ARID4A	5926	broad.mit.edu	37	14	58831119	58831119	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr14:58831118_58831118AT>A	uc001xdp.3	+	19	2565	c.2311_2311AT>A	c.(2311-2313)attfs	p.I771fs	ARID4A_uc001xdo.3_Frame_Shift_Del_p.I771fs|ARID4A_uc001xdq.3_Frame_Shift_Del_p.I771fs|ARID4A_uc010apg.1_Frame_Shift_Del_p.I449fs	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	771					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AATAGTACAGATTTTTGGGAA	0.333												
SHF	90525	broad.mit.edu	37	15	45491037	45491039	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:45491036_45491038TTTC>T	uc001zuy.3	-	1	730_732	c.235_237GAAA>A	c.(235-237)aaa>A	p.K79del	TRNA_uc021skk.1_5'Flank|TRNA_uc021skl.1_5'Flank	NM_138356	NP_612365	B3KTY1	B3KTY1_HUMAN	Homo sapiens Src homology 2 domain containing F (SHF), mRNA.	79										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GCCAGTTGCTTTTCTTCTTCTGT	0.571											OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CLK3	1198	broad.mit.edu	37	15	74918311	74918312	+	Splice_Site	INS	-	-	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr15:74918310_74918311G>GT	uc010uln.2	+	7	1722	c.1261_splice	c.e7+1	p.F421_splice	CLK3_uc002ayg.4_Splice_Site_p.F273_splice|CLK3_uc002ayh.4_Splice_Site_p.F52_splice|CLK3_uc002ayj.4_Splice_Site_p.F250_splice|CLK3_uc002ayk.4_Splice_Site_p.F200_splice|CLK3_uc002ayl.4_Splice_Site_p.F106_splice	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	421	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GCCCTTAGATGTAAGTGTCCAC	0.515												
FLOT2	2319	broad.mit.edu	37	17	27211272	27211272	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:27211271_27211271AC>A	uc002hdc.3	-	2	317	c.194_194GT>T	c.(193-195)gtafs	p.V65fs		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Homo sapiens flotillin 2 (FLOT2), mRNA.	65					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AGTTAAAGCTACCCCCTCGGC	0.607												
XYLT2	64132	broad.mit.edu	37	17	48434434	48434435	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:48434433_48434434C>CT	uc002iqo.3	+	8	1870_1871	c.1761_1762C>CT	c.(1759-1764)ggcttgfs	p.G587fs	XYLT2_uc010dbo.3_Intron	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	587					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGCCCAGGGGCTTGCCGTCCAG	0.639												
BZRAP1	9256	broad.mit.edu	37	17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653												
TBCD	6904	broad.mit.edu	37	17	80887103	80887103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr17:80887102_80887102TC>T	uc002kfy.1	+	30	2937	c.2807_2807TC>T	c.(2806-2808)atcfs	p.I936fs	TBCD_uc002kfz.3_Frame_Shift_Del_p.I936fs|TBCD_uc002kgb.1_Frame_Shift_Del_p.I261fs|TBCD_uc002kgd.3_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	936					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGCCCTCCCATCCCCCACGTG	0.627												
FHOD3	80206	broad.mit.edu	37	18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr18:34205515_34205515AC>A	uc021uiv.1	+	9	1096	c.999_999AC>A	c.(997-999)ccafs	p.P333fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	333	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCACGGAGCCACCCCCCAGTG	0.677												
ADAMTS10	81794	broad.mit.edu	37	19	8651552	8651552	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr19:8651551_8651551TG>T	uc002mkj.1	-	19	2568	c.2294_2294CA>A	c.(2293-2295)cagfs	p.Q765fs	ADAMTS10_uc002mki.1_Frame_Shift_Del_p.Q252fs|ADAMTS10_uc002mkk.1_Frame_Shift_Del_p.Q397fs	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	765	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACGGTGGGGCTGGGGGGTCCC	0.627											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CELSR1	9620	broad.mit.edu	37	22	46931227	46931227	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8284-01A-11D-2340-08	TCGA-BR-8284-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e07f553-454d-480d-8ae8-69c085d95ace	cb783f9c-9839-4d69-a4f5-56988bcb8b32	g.chr22:46931226_46931226GC>G	uc003bhw.1	-	0	1842	c.1842_1842GC>C	c.(1840-1842)ggcfs	p.G614fs		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	614	Cadherin 4.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGCGCTGCCGCCCCCCAGAA	0.657