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
MXRA8	54587	broad.mit.edu	37	1	1289837	1289837	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:1289837G>A	uc001aew.2	-	6	1033	c.1002C>T	c.(1000-1002)AGC>AGT	p.S334S	MXRA8_uc001aex.3_Silent_p.S334S|MXRA8_uc001aey.3_Silent_p.S334S|MXRA8_uc010nyl.1_Silent_p.S334S|MXRA8_uc001aez.2_Silent_p.S233S|MXRA8_uc001afa.2_Silent_p.S325S	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	334	Extracellular (Potential).					integral to membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGTGGGCTCGGCTCTCGGGGA	0.682												
CCNL2	81669	broad.mit.edu	37	1	1328774	1328774	+	Splice_Site	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:1328774A>G	uc001afi.2	-	5	691	c.659_splice	c.e5+1	p.W220_splice	CCNL2_uc010nym.1_5'Flank|CCNL2_uc001aff.1_5'Flank|CCNL2_uc001afg.1_Splice_Site|CCNL2_uc001afh.2_Splice_Site_p.W220_splice|CCNL2_uc001afj.2_Splice_Site_p.W220_splice|CCNL2_uc001afk.2_Splice_Site_p.W220_splice	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A						regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AGCTCAACTCACCATGAGGTC	0.498												
ACTRT2	140625	broad.mit.edu	37	1	2939080	2939080	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:2939080C>T	uc001ajz.2	+	1	1035	c.830C>T	c.(829-831)TCG>TTG	p.S277L		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	277						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCCGGGCTCTCGAATATGGTC	0.642												
ARHGEF16	27237	broad.mit.edu	37	1	3390004	3390004	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:3390004G>A	uc001akg.3	+	8	1471	c.1223G>A	c.(1222-1224)CGG>CAG	p.R408Q	ARHGEF16_uc001aki.2_Missense_Mutation_p.R120Q|ARHGEF16_uc001akj.2_Missense_Mutation_p.R120Q|ARHGEF16_uc009vli.1_Missense_Mutation_p.R112Q|ARHGEF16_uc010nzh.1_Missense_Mutation_p.R112Q	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	408	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ATTGAGAGGCGGCCGGCGTGC	0.647												
CHD5	26038	broad.mit.edu	37	1	6215730	6215730	+	Silent	SNP	G	G	A	rs140138233		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:6215730G>A	uc001amb.1	-	4	535	c.435C>T	c.(433-435)GAC>GAT	p.D145D		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	145					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)		GGTAGTCCACGTCGTCCAGGC	0.617												
NOL9	79707	broad.mit.edu	37	1	6585974	6585974	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:6585974A>G	uc001ans.2	-	12	2068	c.2049T>C	c.(2047-2049)CCT>CCC	p.P683P	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	683					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCCTCCTCAGGTTCTCTTG	0.423												
THAP3	90326	broad.mit.edu	37	1	6692557	6692557	+	Splice_Site	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:6692557T>C	uc001aoc.2	+	5	597	c.438_splice	c.e5+2	p.Q146_splice	THAP3_uc001aod.2_Splice_Site_p.Q145_splice|THAP3_uc001aoe.1_Splice_Site_p.Q153_splice			Q8WTV1	THAP3_HUMAN	RecName: Full=THAP domain-containing protein 3;								DNA binding|metal ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GTAAAACAGGTAAGACTGAGT	0.547												
PIK3CD	5293	broad.mit.edu	37	1	9780209	9780209	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:9780209G>A	uc001aqb.3	+	11	1587	c.1379G>A	c.(1378-1380)CGC>CAC	p.R460H	PIK3CD_uc010oaf.1_Missense_Mutation_p.R460H|PIK3CD_uc001aqe.3_Missense_Mutation_p.R425H	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	460					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GGCACTGTGCGCAGTAACCCC	0.637												
KIF1B	23095	broad.mit.edu	37	1	10318557	10318557	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:10318557G>A	uc001aqx.3	+	4	392	c.190G>A	c.(190-192)GAT>AAT	p.D64N	KIF1B_uc001aqv.3_Missense_Mutation_p.D64N|KIF1B_uc001aqw.3_Missense_Mutation_p.D64N|KIF1B_uc001aqy.2_Missense_Mutation_p.D64N|KIF1B_uc001aqz.2_Missense_Mutation_p.D64N|KIF1B_uc001ara.2_Missense_Mutation_p.D64N|KIF1B_uc001arb.2_Missense_Mutation_p.D64N|KIF1B_uc009vmt.2_RNA	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	64	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACAGCCCGAAGATCCCTGTTT	0.358												
PTCHD2	57540	broad.mit.edu	37	1	11579854	11579854	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:11579854G>A	uc001ash.3	+	9	2255	c.2117G>A	c.(2116-2118)CGC>CAC	p.R706H	PTCHD2_uc001asi.1_Missense_Mutation_p.R706H	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	706	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACGGGCAGCCGCGGCCATCTC	0.667												
FBXO44	93611	broad.mit.edu	37	1	11718602	11718602	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:11718602G>A	uc001asm.2	+	4	531	c.405G>A	c.(403-405)AAG>AAA	p.K135K	FBXO44_uc001ask.2_Intron|FBXO44_uc010oaq.1_3'UTR|FBXO44_uc001asl.2_Silent_p.K135K|FBXO44_uc001asn.2_Intron|FBXO44_uc010oar.1_Missense_Mutation_p.V126I|FBXO44_uc010oas.1_Intron	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN	F-box protein 44 isoform 1	135	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCTCAAGTCCCAGGTGG	0.657												
VPS13D	55187	broad.mit.edu	37	1	12405567	12405567	+	Splice_Site	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:12405567G>A	uc001atv.2	+	43	9162	c.9021_splice	c.e43+1	p.T3007_splice	VPS13D_uc001atw.2_Splice_Site_p.T2982_splice|VPS13D_uc001atx.2_Splice_Site_p.T2194_splice	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1						protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTCCTCTACGGTGTGTGACAT	0.433												
PRDM2	7799	broad.mit.edu	37	1	14105136	14105136	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:14105136A>T	uc001avi.2	+	8	1702	c.846A>T	c.(844-846)GAA>GAT	p.E282D	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.E282D|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.E39D|PRDM2_uc001avk.2_Missense_Mutation_p.E81D|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	282	Asp/Glu-rich (acidic).			EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 4; AAA87023).		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)		aagaagaagaagatgatgatg	0.259												
SPEN	23013	broad.mit.edu	37	1	16259385	16259385	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:16259385C>T	uc001axk.1	+	11	6854	c.6650C>T	c.(6649-6651)GCG>GTG	p.A2217V	SPEN_uc010obp.1_Missense_Mutation_p.A2176V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2217	RID.|Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGCTGGCTGCGGCCATCGGC	0.577												
PADI3	51702	broad.mit.edu	37	1	17601227	17601227	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:17601227C>T	uc001bai.2	+	11	1293	c.1253C>T	c.(1252-1254)GCC>GTC	p.A418V		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	418					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCAGTGGTGGCCAATGGGAAA	0.607											OREG0013148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PADI3	51702	broad.mit.edu	37	1	17609502	17609502	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:17609502T>C	uc001bai.2	+	16	1963	c.1923T>C	c.(1921-1923)CAT>CAC	p.H641H		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	641					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ACATGCTGCATGGGGAGGTGC	0.592												
PADI6	353238	broad.mit.edu	37	1	17727905	17727905	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:17727905G>A	uc001bak.1	+	17	2056	c.2056G>A	c.(2056-2058)GCC>ACC	p.A686T		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	peptidylarginine deiminase type 6	678				A -> T (in Ref. 1; AAR38850).	peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGTGCCCTTTGCCTTCAAATG	0.572												
UBR4	23352	broad.mit.edu	37	1	19467976	19467976	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:19467976C>A	uc001bbi.2	-	57	8357	c.8353G>T	c.(8353-8355)GGC>TGC	p.G2785C	UBR4_uc001bbk.1_Missense_Mutation_p.G467C	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2785					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAGGGGTTGCCATTGTTGACA	0.557												
UBR4	23352	broad.mit.edu	37	1	19488197	19488197	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:19488197G>A	uc001bbi.2	-	37	5065	c.5061C>T	c.(5059-5061)GGC>GGT	p.G1687G	UBR4_uc001bbm.1_Silent_p.G898G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1687	UBR-type.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGACACCCACGCCATCCACCA	0.483												
PQLC2	54896	broad.mit.edu	37	1	19652849	19652849	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:19652849C>T	uc001bby.2	+	6	845	c.493C>T	c.(493-495)CGG>TGG	p.R165W	PQLC2_uc001bbz.2_Missense_Mutation_p.R100W|PQLC2_uc001bca.2_Missense_Mutation_p.R165W|PQLC2_uc001bcb.2_Missense_Mutation_p.R54W|PQLC2_uc001bcc.2_Missense_Mutation_p.R54W	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	165	Extracellular (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCGGGGGCGGGCGCTCCT	0.692												
HP1BP3	50809	broad.mit.edu	37	1	21097459	21097459	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:21097459T>C	uc001bdw.1	-	6	758	c.618A>G	c.(616-618)GCA>GCG	p.A206A	HP1BP3_uc001bdv.1_Silent_p.A168A|HP1BP3_uc010odh.1_Silent_p.A168A|HP1BP3_uc001bdy.1_Silent_p.A206A|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Silent_p.A205A|HP1BP3_uc010odg.1_Silent_p.A54A	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	206	H15 1.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CTCTTTTCAGTGCTTGTTTAA	0.368												
LDLRAD2	401944	broad.mit.edu	37	1	22140919	22140919	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:22140919G>A	uc001bfg.1	+	2	301	c.114G>A	c.(112-114)ACG>ACA	p.T38T		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain	38	Extracellular (Potential).					integral to membrane	receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GCGGGCAGACGTGGCAGGGGG	0.468												
HSPG2	3339	broad.mit.edu	37	1	22188329	22188329	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:22188329G>T	uc001bfj.2	-	39	4916	c.4876C>A	c.(4876-4878)CGC>AGC	p.R1626S	HSPG2_uc009vqd.2_Missense_Mutation_p.R1627S	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1626	Laminin EGF-like 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCACAGGTGCGGGAAAACCTG	0.587												
ASAP3	55616	broad.mit.edu	37	1	23758199	23758199	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:23758199C>T	uc001bha.2	-	23	2660	c.2536G>A	c.(2536-2538)GTC>ATC	p.V846I	ASAP3_uc001bgy.1_Missense_Mutation_p.V350I|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.V736I|ASAP3_uc010oea.1_Missense_Mutation_p.V837I|ASAP3_uc001bhb.2_Intron	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	846					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						CTGAATCTGACGGGGAGGTAC	0.398												
C1orf63	57035	broad.mit.edu	37	1	25571717	25571717	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:25571717G>T	uc001bjw.2	-	3	848	c.596C>A	c.(595-597)GCT>GAT	p.A199D		NM_020317	NP_064713	Q9BUV0	CA063_HUMAN	hypothetical protein LOC57035	199										pancreas(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;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTGAGACTAGCTGGCAAGTC	0.398												
MAP3K6	9064	broad.mit.edu	37	1	27687240	27687240	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:27687240C>T	uc001bny.1	-	15	2259	c.2010G>A	c.(2008-2010)ACG>ACA	p.T670T	MAP3K6_uc009vsw.1_Silent_p.T662T|MAP3K6_uc001bnz.1_Silent_p.T193T	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	670	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)		TGCGCACCCTCGTGTGGCGAT	0.701												
MATN1	4146	broad.mit.edu	37	1	31189718	31189718	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:31189718C>T	uc001brz.2	-	4	743	c.709G>A	c.(709-711)GTG>ATG	p.V237M	uc001bsb.1_5'Flank|MATN1_uc001bsa.1_Missense_Mutation_p.V155M	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	237	EGF-like.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		CTGATGCACACCTGCTCACAG	0.592												
BAI2	576	broad.mit.edu	37	1	32207516	32207516	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:32207516C>T	uc001btn.2	-	9	1824	c.1470G>A	c.(1468-1470)ACG>ACA	p.T490T	BAI2_uc010ogo.1_Silent_p.T132T|BAI2_uc010ogp.1_Silent_p.T423T|BAI2_uc010ogq.1_Silent_p.T490T|BAI2_uc001bto.2_Silent_p.T490T|BAI2_uc001btq.1_Silent_p.T423T|BAI2_uc010ogr.1_Silent_p.T423T	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	490	TSP type-1 4.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGTGTCACACGTCTTAGAGC	0.642												
KPNA6	23633	broad.mit.edu	37	1	32623924	32623924	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:32623924G>A	uc001bug.2	+	5	476	c.388G>A	c.(388-390)GTG>ATG	p.V130M	KPNA6_uc001buh.2_Translation_Start_Site|KPNA6_uc010ogx.1_Missense_Mutation_p.V127M|KPNA6_uc010ogy.1_Missense_Mutation_p.V135M|KPNA6_uc009vtz.2_Missense_Mutation_p.V69M	NM_012316	NP_036448	O60684	IMA7_HUMAN	karyopherin alpha 6	130	ARM 2.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGATCGGTTCGTGGAGTTTCT	0.373												
ZNF362	149076	broad.mit.edu	37	1	33764618	33764618	+	Missense_Mutation	SNP	G	G	A	rs35620942	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:33764618G>A	uc001bxc.1	+	9	1404	c.1234G>A	c.(1234-1236)GGC>AGC	p.G412S		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	412					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)				GGAGTCCCCCGGCATCCCGGT	0.662											OREG0013343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CSMD2	114784	broad.mit.edu	37	1	33985245	33985245	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:33985245G>A	uc001bxn.1	-	69	10366	c.10337C>T	c.(10336-10338)GCT>GTT	p.A3446V	CSMD2_uc001bxm.1_Missense_Mutation_p.A3590V	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3446	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCGTGGCCAGCATAGCCATT	0.542												
NCDN	23154	broad.mit.edu	37	1	36026370	36026370	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:36026370C>T	uc001bza.2	+	4	745	c.618C>T	c.(616-618)GCC>GCT	p.A206A	KIAA0319L_uc010ohw.1_5'Flank|NCDN_uc001bzb.2_Silent_p.A206A|NCDN_uc001bzc.2_Silent_p.A189A	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	206					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGCTGCTGCCGAGACACAGT	0.637												
NCDN	23154	broad.mit.edu	37	1	36028834	36028834	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:36028834G>A	uc001bza.2	+	6	1544	c.1417G>A	c.(1417-1419)GTT>ATT	p.V473I	NCDN_uc001bzb.2_Missense_Mutation_p.V473I|NCDN_uc001bzc.2_Missense_Mutation_p.V456I	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	473					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCACCTGACCGTTGAAGATGG	0.582												
TFAP2E	339488	broad.mit.edu	37	1	36056352	36056352	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:36056352G>A	uc010ohy.1	+	6	1230	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H	PSMB2_uc001bzd.1_Intron	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating	341	H-S-H (helix-span-helix), dimerization.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTGCACAGCCGCAAGAGCATG	0.622												
MACF1	23499	broad.mit.edu	37	1	39910508	39910508	+	Splice_Site	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:39910508G>A	uc010oiu.1	+	45	15065	c.14934_splice	c.e45+1	p.K4978_splice	MACF1_uc010ois.1_Splice_Site_p.K4476_splice	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker						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)			AGAAAGAAAGGTACAGTGTAT	0.413												
NT5C1A	84618	broad.mit.edu	37	1	40124850	40124850	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:40124850A>G	uc001cdq.1	-	6	1050	c.1050T>C	c.(1048-1050)GGT>GGC	p.G350G		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	350					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCTGTGCCACACCATAAGGCA	0.582												
YBX1	4904	broad.mit.edu	37	1	43166532	43166532	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:43166532A>C	uc001chs.2	+	7	992	c.821A>C	c.(820-822)CAG>CCG	p.Q274P		NM_004559	NP_004550	P67809	YBOX1_HUMAN	nuclease sensitive element binding protein 1	274					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			ovary(4)|upper_aerodigestive_tract(1)	5	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCCAAGGTCAGCAGCCACCT	0.517												
C1orf50	79078	broad.mit.edu	37	1	43240471	43240471	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:43240471C>A	uc001cia.3	+	4	413	c.346C>A	c.(346-348)CCT>ACT	p.P116T		NM_024097	NP_077002	Q9BV19	CA050_HUMAN	hypothetical protein LOC79078	116										ovary(1)	1	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGTGAAAAAACCTGGCAACAT	0.373												
PTPRF	5792	broad.mit.edu	37	1	44069443	44069443	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:44069443G>A	uc001cjr.2	+	16	2960	c.2620G>A	c.(2620-2622)GAC>AAC	p.D874N	PTPRF_uc001cjs.2_Missense_Mutation_p.D865N|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Missense_Mutation_p.D434N|PTPRF_uc001cjv.2_Missense_Mutation_p.D334N|PTPRF_uc001cjw.2_Missense_Mutation_p.D100N	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	874	Extracellular (Potential).|Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGGCAAGGATGACCAGCACTT	0.632												
SLC6A9	6536	broad.mit.edu	37	1	44482788	44482788	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:44482788C>T	uc001cll.2	-	1	210	c.18G>A	c.(16-18)ACG>ACA	p.T6T	SLC6A9_uc009vxe.2_5'Flank|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Silent_p.T6T|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Silent_p.T6T|SLC6A9_uc001cln.2_Intron|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	6	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCGCAGCCCGCGTGTCTCCGC	0.652												
DMAP1	55929	broad.mit.edu	37	1	44680454	44680454	+	Missense_Mutation	SNP	C	C	T	rs34697342	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:44680454C>T	uc001clq.1	+	4	357	c.277C>T	c.(277-279)CGG>TGG	p.R93W	DMAP1_uc010okq.1_Missense_Mutation_p.R119W|DMAP1_uc010okr.1_Missense_Mutation_p.R93W|DMAP1_uc010oks.1_Missense_Mutation_p.R93W|DMAP1_uc010okt.1_Missense_Mutation_p.R93W|DMAP1_uc001clr.1_Missense_Mutation_p.R93W|DMAP1_uc001cls.1_Missense_Mutation_p.R93W|DMAP1_uc010oku.1_Missense_Mutation_p.R93W	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	93					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					CAAGAAGGTGCGGCCTTGGAA	0.612												
ERI3	79033	broad.mit.edu	37	1	44713617	44713617	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:44713617C>T	uc001clt.2	-	8	1166	c.925G>A	c.(925-927)GGC>AGC	p.G309S	ERI3_uc010okv.1_Missense_Mutation_p.G132S|ERI3_uc009vxg.2_Missense_Mutation_p.G337S|ERI3_uc010okw.1_Missense_Mutation_p.G231S|ERI3_uc001clu.2_Intron	NM_024066	NP_076971	O43414	ERI3_HUMAN	prion protein interacting protein	309	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			ovary(2)|large_intestine(1)	3						TGACCAATGCCGCTGTGGGGC	0.602												
HPDL	84842	broad.mit.edu	37	1	45793416	45793416	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:45793416T>C	uc001cne.2	+	1	872	c.596T>C	c.(595-597)CTG>CCG	p.L199P		NM_032756	NP_116145	Q96IR7	HPDL_HUMAN	glyoxalase domain containing 1	199					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	Acute lymphoblastic leukemia(166;0.155)					GATCCCGAGCTGGGCCTCGAA	0.642												
FAAH	2166	broad.mit.edu	37	1	46876093	46876093	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:46876093G>A	uc001cpu.2	+	10	1281	c.1199G>A	c.(1198-1200)TGC>TAC	p.C400Y	FAAH_uc001cpv.2_RNA	NM_001441	NP_001432	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	400	Cytoplasmic (By similarity).				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GTGGACCCCTGCCTGGGGGAC	0.592												
C1orf87	127795	broad.mit.edu	37	1	60506705	60506705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:60506705C>T	uc001czs.1	-	4	533	c.441G>A	c.(439-441)TGG>TGA	p.W147*		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	147							calcium ion binding			ovary(1)|breast(1)	2						GTTCCAAGGACCAGTCTCTAA	0.478												
USP1	7398	broad.mit.edu	37	1	62916034	62916034	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:62916034G>A	uc001daj.1	+	9	2068	c.1740G>A	c.(1738-1740)GCG>GCA	p.A580A	USP1_uc001dak.1_Silent_p.A580A|USP1_uc001dal.1_Silent_p.A580A	NM_001017415	NP_001017415	O94782	UBP1_HUMAN	ubiquitin specific protease 1	580					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GATTATTTGCGGTTGTGATGC	0.383												
LRRIQ3	127255	broad.mit.edu	37	1	74507249	74507249	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:74507249C>T	uc001dfy.3	-	7	1558	c.1366G>A	c.(1366-1368)GCT>ACT	p.A456T	LRRIQ3_uc001dfz.3_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	456										ovary(2)	2						TCATTAACAGCTACTCTAACT	0.318												
LRRIQ3	127255	broad.mit.edu	37	1	74649285	74649285	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:74649285T>C	uc001dfy.3	-	2	276	c.84A>G	c.(82-84)AAA>AAG	p.K28K	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	28										ovary(2)	2						aaacaAAATCTTTTTGACCTT	0.179												
COL24A1	255631	broad.mit.edu	37	1	86591529	86591529	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:86591529G>A	uc001dlj.2	-	3	532	c.490C>T	c.(490-492)CAC>TAC	p.H164Y	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.H164Y	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	164	TSP N-terminal.|Laminin G-like.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCAAATGAGTGCCATTGCTCA	0.363												
LMO4	8543	broad.mit.edu	37	1	87805253	87805253	+	Missense_Mutation	SNP	G	G	A	rs149550347		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:87805253G>A	uc001dmi.2	+	3	1051	c.271G>A	c.(271-273)GGA>AGA	p.G91R	LMO4_uc001dmj.2_Missense_Mutation_p.G91R	NM_006769	NP_006760	P61968	LMO4_HUMAN	LIM domain only 4	91	LIM zinc-binding 2.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding				0		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		CAGCGCTTGCGGACAGTCGAT	0.383												
LPPR4	9890	broad.mit.edu	37	1	99772446	99772446	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:99772446C>T	uc001dse.2	+	7	2278	c.2172C>T	c.(2170-2172)CGC>CGT	p.R724R	LPPR4_uc010oue.1_Silent_p.R666R	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	724							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTTCTTCCCGCGACTCCACCC	0.507												
CLCC1	23155	broad.mit.edu	37	1	109484090	109484090	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:109484090C>T	uc001dwe.1	-	7	825	c.733G>A	c.(733-735)GCC>ACC	p.A245T	AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Missense_Mutation_p.A245T|CLCC1_uc001dwg.1_Missense_Mutation_p.A195T|CLCC1_uc009wes.1_Missense_Mutation_p.A124T|CLCC1_uc009wet.1_Intron	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Mid-1-related chloride channel 1 isoform 1	245						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				liver(1)	1		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		TCCATCTTGGCGACTTCAGCC	0.468												
GSTM3	2947	broad.mit.edu	37	1	110280306	110280306	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:110280306C>T	uc001dyo.2	-	7	750	c.440G>A	c.(439-441)GGG>GAG	p.G147E	GSTM3_uc001dyp.2_Missense_Mutation_p.G144E|GSTM3_uc010ovv.1_Missense_Mutation_p.G147E	NM_000849	NP_000840	P21266	GSTM3_HUMAN	glutathione S-transferase mu 3	147	GST C-terminal.			G -> W (in Ref. 1; AAA60964).	establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding				0		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TGAGAATTTCCCCAGAAACAT	0.438												
DENND2C	163259	broad.mit.edu	37	1	115142883	115142883	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:115142883G>A	uc001efd.1	-	15	2749	c.2047C>T	c.(2047-2049)CGG>TGG	p.R683W	DENND2C_uc001eez.2_Intron|DENND2C_uc001efc.1_Missense_Mutation_p.R626W	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	683	DENN.									skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACAGACCCGGATGAGATGA	0.423												
IGSF3	3321	broad.mit.edu	37	1	117156549	117156549	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:117156549G>A	uc001egr.1	-	4	1375	c.670C>T	c.(670-672)CTG>TTG	p.L224L	IGSF3_uc001egq.1_Silent_p.L224L	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	224	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GTCCTCCCCAGCTTGTCCAGC	0.622												
CD101	9398	broad.mit.edu	37	1	117559831	117559831	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:117559831A>G	uc010oxb.1	+	5	1406	c.1348A>G	c.(1348-1350)ATC>GTC	p.I450V	CD101_uc009whd.2_Missense_Mutation_p.I450V|CD101_uc010oxc.1_Missense_Mutation_p.I450V|CD101_uc010oxd.1_Missense_Mutation_p.I388V	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	450	Extracellular (Potential).|Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CTGGTGGCACATCCCACGGGA	0.572												
CA14	23632	broad.mit.edu	37	1	150234016	150234016	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:150234016C>T	uc001etx.2	+	3	544	c.235C>T	c.(235-237)CTG>TTG	p.L79L		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV precursor	79	Extracellular (Potential).					integral to membrane	carbonate dehydratase activity|metal ion binding			ovary(1)	1	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCTTTGGACCTGCACAACAA	0.473												
SEMA6C	10500	broad.mit.edu	37	1	151106915	151106915	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:151106915G>T	uc001ewu.2	-	18	2021	c.1721C>A	c.(1720-1722)GCT>GAT	p.A574D	SEMA6C_uc001ewv.2_Missense_Mutation_p.A574D|SEMA6C_uc001eww.2_Missense_Mutation_p.A534D|SEMA6C_uc010pcq.1_Missense_Mutation_p.A574D	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	574	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACTCCCAGTAGCTCCATCTAT	0.527												
SEMA6C	10500	broad.mit.edu	37	1	151108068	151108068	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:151108068G>A	uc001ewu.2	-	14	1732	c.1432C>T	c.(1432-1434)CGG>TGG	p.R478W	SEMA6C_uc001ewv.2_Missense_Mutation_p.R478W|SEMA6C_uc001eww.2_Missense_Mutation_p.R438W|SEMA6C_uc010pcq.1_Missense_Mutation_p.R478W	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	478	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGCCTCACCGGGCAGGGCTG	0.597												
LINGO4	339398	broad.mit.edu	37	1	151773687	151773687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:151773687C>T	uc001ezf.1	-	2	1684	c.1494G>A	c.(1492-1494)TGG>TGA	p.W498*		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	498	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGACTTCCAGCCAGGTCCTCA	0.567												
TCHH	7062	broad.mit.edu	37	1	152080052	152080052	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:152080052G>A	uc001ezp.2	-	2	5641	c.5641C>T	c.(5641-5643)CGG>TGG	p.R1881W	TCHH_uc009wne.1_Missense_Mutation_p.R1881W	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1881	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTCTTCCCGTAATTTCCTT	0.562												
FLG	2312	broad.mit.edu	37	1	152276179	152276179	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:152276179C>A	uc001ezu.1	-	3	11219	c.11183G>T	c.(11182-11184)GGG>GTG	p.G3728V		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3728	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTACTGGGCCCAGCCCGTCC	0.607									Ichthyosis			
LCE1C	353133	broad.mit.edu	37	1	152777656	152777656	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:152777656G>A	uc001fap.1	-	2	350	c.299C>T	c.(298-300)TCG>TTG	p.S100L		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	100	Gly-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGCCCCCCGAGGGCTGGCT	0.667												
S100A7A	338324	broad.mit.edu	37	1	153390574	153390574	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:153390574G>T	uc001fbt.1	+	2	73	c.16G>T	c.(16-18)GCT>TCT	p.A6S		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7-like 1	6						cytoplasm	calcium ion binding			skin(1)	1	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAACACTCAAGCTGAGAGGTC	0.418												
S100A6	6277	broad.mit.edu	37	1	153507253	153507253	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:153507253C>A	uc001fbw.1	-	3	506	c.192G>T	c.(190-192)AAG>AAT	p.K64N		NM_014624	NP_055439	P06703	S10A6_HUMAN	S100 calcium-binding protein A6	64	EF-hand 2.|2.				axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding|tropomyosin binding			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTCCTGGTCCTTGTTCCGGT	0.478												
DENND4B	9909	broad.mit.edu	37	1	153907390	153907390	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:153907390G>A	uc001fdd.1	-	18	3020	c.2619C>T	c.(2617-2619)CGC>CGT	p.R873R	uc001fdc.1_RNA	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	873										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTGGCCCAGCGCAGACGCC	0.502												
NUP210L	91181	broad.mit.edu	37	1	154125250	154125250	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:154125250G>A	uc001fdw.2	-	2	374	c.302C>T	c.(301-303)CCG>CTG	p.P101L	NUP210L_uc010peh.1_Missense_Mutation_p.P101L	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	101						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAGGCGTATCGGTTGCGTAGA	0.408												
PYGO2	90780	broad.mit.edu	37	1	154931946	154931946	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:154931946G>T	uc001fft.2	-	3	736	c.530C>A	c.(529-531)CCT>CAT	p.P177H		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	pygopus homolog 2	177	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			skin(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCACTGGGAGGACTAAAGTT	0.607												
SHC1	6464	broad.mit.edu	37	1	154942610	154942610	+	Silent	SNP	G	G	A	rs150853919	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:154942610G>A	uc001ffv.2	-	1	614	c.393C>T	c.(391-393)GGC>GGT	p.G131G	SHC1_uc001ffz.1_5'Flank|SHC1_uc001ffw.2_Silent_p.G131G|SHC1_uc001ffx.2_Silent_p.G21G|SHC1_uc001ffy.2_Silent_p.G21G	NM_183001	NP_892113	P29353	SHC1_HUMAN	SHC-transforming protein 1 isoform 1	131					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(1)|skin(1)	2	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCACTCCTCGCCCCCAAGCT	0.652												
CLK2	1196	broad.mit.edu	37	1	155233104	155233104	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:155233104T>C	uc001fjy.2	-	13	1695	c.1405A>G	c.(1405-1407)ACC>GCC	p.T469A	RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'Flank|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.T468A|CLK2_uc001fjx.2_Missense_Mutation_p.T241A|CLK2_uc009wqm.2_Missense_Mutation_p.T469A	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	469	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCACCCAAGGTCAGCCGCTTA	0.567								Other_conserved_DNA_damage_response_genes				
ARHGEF2	9181	broad.mit.edu	37	1	155920171	155920171	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:155920171G>A	uc001fmt.2	-	21	2924	c.2806C>T	c.(2806-2808)CGG>TGG	p.R936W	ARHGEF2_uc001fmq.2_Missense_Mutation_p.R174W|ARHGEF2_uc001fmr.2_Missense_Mutation_p.R908W|ARHGEF2_uc001fms.2_Missense_Mutation_p.R935W|ARHGEF2_uc001fmu.2_Missense_Mutation_p.R980W	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	936					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTTGCAGCCGCTCTTCGGGG	0.627												
SLC25A44	9673	broad.mit.edu	37	1	156169979	156169979	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:156169979T>C	uc001fnp.2	+	2	663	c.341T>C	c.(340-342)GTG>GCG	p.V114A	SLC25A44_uc010phc.1_Intron|SLC25A44_uc009wrr.2_Missense_Mutation_p.V114A|SLC25A44_uc010phd.1_Intron|SLC25A44_uc010phe.1_Intron	NM_014655	NP_055470	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	114	Solcar 2.|Helical; Name=3; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	Hepatocellular(266;0.158)					AAATCACTGGTGGCTGGTGGC	0.532												
BCAN	63827	broad.mit.edu	37	1	156622678	156622678	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:156622678G>A	uc001fpp.2	+	8	2272	c.1936G>A	c.(1936-1938)GCA>ACA	p.A646T	BCAN_uc001fpo.2_Missense_Mutation_p.A646T	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	646	EGF-like.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGTGGTCCCCGCATCAGGTAA	0.592												
HDGF	3068	broad.mit.edu	37	1	156714905	156714905	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:156714905G>A	uc001fpy.3	-	3	520	c.198C>T	c.(196-198)TAC>TAT	p.Y66Y	HDGF_uc009wsd.2_Silent_p.Y34Y|HDGF_uc001fpz.3_Silent_p.Y59Y|HDGF_uc009wse.2_Silent_p.Y82Y|HDGF_uc010phr.1_Silent_p.Y82Y|HDGF_uc009wsf.2_Silent_p.Y34Y|HDGF_uc009wsg.2_Silent_p.Y66Y	NM_004494	NP_004485	P51858	HDGF_HUMAN	hepatoma-derived growth factor isoform a	66	PWWP.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	p.Y66D(1)		lung(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		TGGATTCCTCGTAAGGGAAGA	0.582												
PEAR1	375033	broad.mit.edu	37	1	156883234	156883234	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:156883234G>A	uc001fqj.1	+	20	2679	c.2563G>A	c.(2563-2565)GCC>ACC	p.A855T	PEAR1_uc001fqk.1_Missense_Mutation_p.A480T	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	855	Pro-rich.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCAGGTGGGGCCCAAGGGCA	0.667												
OR10Z1	128368	broad.mit.edu	37	1	158577123	158577123	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:158577123A>G	uc010pio.1	+	1	895	c.895A>G	c.(895-897)ACA>GCA	p.T299A		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					GGCTATACAGACAGCTCTGAG	0.453												
SPTA1	6708	broad.mit.edu	37	1	158651438	158651438	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:158651438C>T	uc001fst.1	-	4	609	c.410G>A	c.(409-411)CGC>CAC	p.R137H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	137	Spectrin 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CCACAGGTGGCGTAGCTCCTC	0.552												
ARHGAP30	257106	broad.mit.edu	37	1	161018315	161018315	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:161018315C>T	uc001fxl.2	-	12	2842	c.2496G>A	c.(2494-2496)GGG>GGA	p.G832G	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Intron|ARHGAP30_uc001fxm.2_Silent_p.G678G|ARHGAP30_uc009wtx.2_Silent_p.G505G	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	832	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGCTGACCTCCCCTGCTCCTC	0.547												
ADAMTS4	9507	broad.mit.edu	37	1	161166501	161166501	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:161166501C>T	uc001fyt.3	-	2	1231	c.803G>A	c.(802-804)CGG>CAG	p.R268Q	ADAMTS4_uc001fyu.2_Missense_Mutation_p.R268Q|NDUFS2_uc001fyv.2_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	268	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GATCACTAGCCGAGTCACCAC	0.647												
C1orf111	284680	broad.mit.edu	37	1	162344047	162344047	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:162344047G>T	uc001gbx.2	-	3	641	c.577C>A	c.(577-579)CCC>ACC	p.P193T		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	hypothetical protein LOC284680	193										ovary(1)	1	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TCCAGGGTGGGGTACATGCGG	0.587												
PBX1	5087	broad.mit.edu	37	1	164776856	164776856	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:164776856A>G	uc001gct.2	+	5	1037	c.779A>G	c.(778-780)TAC>TGC	p.Y260C	PBX1_uc010pku.1_Missense_Mutation_p.Y260C|PBX1_uc010pkv.1_Missense_Mutation_p.Y177C|PBX1_uc001gcs.2_Missense_Mutation_p.Y260C|PBX1_uc010pkw.1_Missense_Mutation_p.Y150C	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	260	Homeobox; TALE-type.				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	soft_tissue(3)|lung(1)|skin(1)	5						AGCAACCCTTACCCCAGTGAG	0.473			T	TCF3|EWSR1	pre B-ALL|myoepithelioma							
BAT2L2	23215	broad.mit.edu	37	1	171494056	171494056	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:171494056A>G	uc010pmg.1	+	10	1412	c.1146A>G	c.(1144-1146)CAA>CAG	p.Q382Q	BAT2L2_uc001ghr.1_Silent_p.Q384Q	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	382							protein C-terminus binding				0						TACCTGCCCAACCATCAGTAG	0.388												
RASAL2	9462	broad.mit.edu	37	1	178063757	178063757	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:178063757G>A	uc001glq.2	+	1	894	c.130G>A	c.(130-132)GTC>ATC	p.V44I	RASAL2_uc009wxb.2_Missense_Mutation_p.V44I|LOC100302401_uc001gln.1_5'Flank|LOC100302401_uc001glo.1_5'Flank|RASAL2_uc009wxa.2_RNA	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	Error:Variant_position_missing_in_Q9UJF2_after_alignment					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						CAGTGGAGCCGTCGCCGGTGG	0.672												
ZNF648	127665	broad.mit.edu	37	1	182025680	182025680	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:182025680G>A	uc001goz.2	-	2	1674	c.1466C>T	c.(1465-1467)TCG>TTG	p.S489L		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	489	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTCAGGGTCGAAGAGCGGGC	0.667												
C1orf14	81626	broad.mit.edu	37	1	182869270	182869270	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:182869270C>T	uc001gpu.2	-	10	2095	c.1810G>A	c.(1810-1812)GTA>ATA	p.V604I	C1orf14_uc001gpv.2_Missense_Mutation_p.V485I|C1orf14_uc010pnz.1_Missense_Mutation_p.V462I|C1orf14_uc001gpw.2_Missense_Mutation_p.V324I	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	676											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		TCTTCTGCTACGATAAAAAAC	0.343												
TPR	7175	broad.mit.edu	37	1	186328998	186328998	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:186328998C>T	uc001grv.2	-	12	1619	c.1322G>A	c.(1321-1323)CGT>CAT	p.R441H	TPR_uc010pop.1_Missense_Mutation_p.R517H	NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	441	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ATATTCCTCACGCTGGCGTTT	0.383			T	NTRK1	papillary thyroid							
FAM5C	339479	broad.mit.edu	37	1	190068096	190068096	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:190068096T>C	uc001gse.1	-	8	1585	c.1353A>G	c.(1351-1353)ACA>ACG	p.T451T	FAM5C_uc010pot.1_Silent_p.T349T	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	451						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CTGGTGCGCATGTCAGGCAGG	0.632												
CFHR3	10878	broad.mit.edu	37	1	196749098	196749098	+	Missense_Mutation	SNP	G	G	A	rs144960443		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:196749098G>A	uc001gtl.2	+	3	512	c.425G>A	c.(424-426)CGT>CAT	p.R142H	CFHR3_uc001gtk.2_Missense_Mutation_p.R142H|CFHR3_uc010poy.1_Missense_Mutation_p.R142H|CFHR1_uc001gtm.2_Intron	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	142	Sushi 2.					extracellular space					0						AGATGCATCCGTGTCAGTAAG	0.483												
ASPM	259266	broad.mit.edu	37	1	197093329	197093329	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:197093329T>C	uc001gtu.2	-	13	3558	c.3301A>G	c.(3301-3303)AGG>GGG	p.R1101G	ASPM_uc001gtv.2_Missense_Mutation_p.R1101G|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1101					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CCACTATCCCTTTTGCCTTTT	0.303												
ASPM	259266	broad.mit.edu	37	1	197108943	197108943	+	Silent	SNP	G	G	A	rs151087446		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:197108943G>A	uc001gtu.2	-	4	2237	c.1980C>T	c.(1978-1980)ATC>ATT	p.I660I	ASPM_uc001gtv.2_Silent_p.I660I|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	660					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GTGCCACAGCGATAATGGGTT	0.294												
KIF21B	23046	broad.mit.edu	37	1	200944791	200944791	+	Missense_Mutation	SNP	C	C	T	rs146030020	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:200944791C>T	uc001gvs.1	-	33	4767	c.4450G>A	c.(4450-4452)GAG>AAG	p.E1484K	KIF21B_uc001gvr.1_Missense_Mutation_p.E1471K|KIF21B_uc009wzl.1_Missense_Mutation_p.E1484K|KIF21B_uc010ppn.1_Missense_Mutation_p.E1471K	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1484	WD 4.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						TCGCCCAGCTCGAACATCTGT	0.632												
IPO9	55705	broad.mit.edu	37	1	201840319	201840319	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:201840319C>T	uc001gwz.2	+	19	2490	c.2440C>T	c.(2440-2442)CAC>TAC	p.H814Y		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	814					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						TCATCTGGTGCACACTCAGCT	0.493												
SYT2	127833	broad.mit.edu	37	1	202568475	202568475	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:202568475C>T	uc001gye.2	-	8	1117	c.924G>A	c.(922-924)CCG>CCA	p.P308P	SYT2_uc010pqb.1_Silent_p.P308P|SYT2_uc009xaf.2_Silent_p.P138P	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	308	Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TCTTCACGTACGGGTCTGCGG	0.552												
PIK3C2B	5287	broad.mit.edu	37	1	204403573	204403573	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:204403573A>G	uc001haw.2	-	25	4159	c.3680T>C	c.(3679-3681)ATC>ACC	p.I1227T	PIK3C2B_uc010pqv.1_Missense_Mutation_p.I1199T	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1227	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTACCGCTTGATGTTGCCAAA	0.512												
YOD1	55432	broad.mit.edu	37	1	207222856	207222856	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:207222856T>C	uc001hfe.1	-	2	603	c.556A>G	c.(556-558)ATA>GTA	p.I186V	PFKFB2_uc010psc.1_5'UTR|YOD1_uc001hff.1_Missense_Mutation_p.I142V	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	YOD1 OTU deubiquinating enzyme 1 homolog	186	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1	Prostate(682;0.19)					ATTTGTGCTATGAGGCGTCTC	0.468												
CR2	1380	broad.mit.edu	37	1	207646356	207646356	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:207646356C>T	uc001hfw.2	+	10	1904	c.1810C>T	c.(1810-1812)CAT>TAT	p.H604Y	CR2_uc001hfv.2_Missense_Mutation_p.H604Y|CR2_uc009xch.2_Missense_Mutation_p.H604Y|CR2_uc009xci.1_Missense_Mutation_p.H89Y	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	604	Sushi 10.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						CCAGTGCTCACATGTCCATAT	0.448												
CR1	1378	broad.mit.edu	37	1	207748941	207748941	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:207748941C>T	uc001hfy.2	+	20	3243	c.3103C>T	c.(3103-3105)CAC>TAC	p.H1035Y	CR1_uc009xcl.1_Missense_Mutation_p.H585Y|CR1_uc001hfx.2_Missense_Mutation_p.H1485Y	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1035	Extracellular (Potential).|Sushi 16.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TGCCTTTAGGCACCGACTCAT	0.423												
CD46	4179	broad.mit.edu	37	1	207940426	207940426	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:207940426T>C	uc001hgc.2	+	6	898	c.742T>C	c.(742-744)TAC>CAC	p.Y248H	CD46_uc001hgd.2_Missense_Mutation_p.Y248H|CD46_uc001hge.2_Missense_Mutation_p.Y248H|CD46_uc001hgf.2_Missense_Mutation_p.Y248H|CD46_uc001hgg.2_Missense_Mutation_p.Y248H|CD46_uc001hgh.2_Missense_Mutation_p.Y248H|CD46_uc001hgi.2_Missense_Mutation_p.Y248H|CD46_uc001hgj.2_Missense_Mutation_p.Y248H|CD46_uc001hgk.2_Missense_Mutation_p.Y248H|CD46_uc001hgl.2_Missense_Mutation_p.Y248H|CD46_uc001hgm.2_Missense_Mutation_p.Y248H|CD46_uc001hgn.2_Missense_Mutation_p.Y248H|CD46_uc001hgo.2_Missense_Mutation_p.Y248H|CD46_uc001hgp.2_Missense_Mutation_p.Y248H	NM_002389	NP_002380	P15529	MCP_HUMAN	CD46 antigen, complement regulatory protein	248	Extracellular (Potential).|Sushi 4.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			large_intestine(2)|lung(1)|central_nervous_system(1)	4						AAAATTTTACTACAAAGCAAC	0.388												
PLXNA2	5362	broad.mit.edu	37	1	208219401	208219401	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:208219401T>C	uc001hgz.2	-	18	4075	c.3317A>G	c.(3316-3318)TAC>TGC	p.Y1106C		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1106	Extracellular (Potential).|IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCCAGGGCGGTAGTCCGTGGT	0.507												
RPS6KC1	26750	broad.mit.edu	37	1	213403856	213403856	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:213403856A>G	uc010ptr.1	+	9	1220	c.1061A>G	c.(1060-1062)GAC>GGC	p.D354G	RPS6KC1_uc001hkd.2_Missense_Mutation_p.D342G|RPS6KC1_uc010pts.1_Missense_Mutation_p.D142G|RPS6KC1_uc010ptt.1_Missense_Mutation_p.D142G|RPS6KC1_uc010ptu.1_Missense_Mutation_p.D173G|RPS6KC1_uc010ptv.1_Intron|RPS6KC1_uc001hke.2_Missense_Mutation_p.D173G	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	354	Protein kinase 1.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTTGTAATGGACACAAGGACA	0.199												
USH2A	7399	broad.mit.edu	37	1	216419954	216419954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:216419954C>A	uc001hku.1	-	13	3169	c.2782G>T	c.(2782-2784)GGA>TGA	p.G928*	USH2A_uc001hkv.2_Nonsense_Mutation_p.G928*	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	928	Laminin EGF-like 8.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACCTTCTTCCTTGACGATTA	0.438										HNSCC(13;0.011)		
SPATA17	128153	broad.mit.edu	37	1	217955552	217955552	+	Missense_Mutation	SNP	C	C	T	rs145142638	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:217955552C>T	uc001hlh.1	+	8	786	c.760C>T	c.(760-762)CGC>TGC	p.R254C	SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.R254C	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	254						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ATTAGAACAACGCTACAGGCC	0.458												
PARP1	142	broad.mit.edu	37	1	226576414	226576414	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:226576414C>T	uc001hqd.3	-	5	831	c.660G>A	c.(658-660)GCG>GCA	p.A220A		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	220					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		ATTTCTTCTTCGCCACTTCAT	0.433								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA				
WNT3A	89780	broad.mit.edu	37	1	228210473	228210473	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:228210473C>T	uc001hrq.1	+	2	255	c.177C>T	c.(175-177)TAC>TAT	p.Y59Y	WNT3A_uc001hrp.1_Silent_p.Y59Y	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	59					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	p.Y59Y(1)		ovary(1)	1		Prostate(94;0.0405)				GCAGGAACTACGTGGAGATCA	0.652												
OBSCN	84033	broad.mit.edu	37	1	228495098	228495098	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:228495098C>T	uc009xez.1	+	46	12376	c.12332C>T	c.(12331-12333)GCG>GTG	p.A4111V	OBSCN_uc001hsn.2_Missense_Mutation_p.A4111V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4111	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GAGCTGCATGCGGGCCCCAAG	0.652												
HIST3H2BB	128312	broad.mit.edu	37	1	228646120	228646120	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:228646120C>T	uc001hsz.2	+	1	313	c.290C>T	c.(289-291)ACG>ATG	p.T97M	HIST3H2A_uc001hsy.2_5'Flank	NM_175055	NP_778225	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	97					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				GAAGTGCAGACGGCCGTTCGC	0.637												
ACTA1	58	broad.mit.edu	37	1	229567918	229567918	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:229567918C>T	uc001htm.2	-	5	736	c.631G>A	c.(631-633)GTG>ATG	p.V211M		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	211					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ATGTCGCGCACGATCTCGCGC	0.483												
RYR2	6262	broad.mit.edu	37	1	237659953	237659953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:237659953G>T	uc001hyl.1	+	20	2224	c.2104G>T	c.(2104-2106)GGA>TGA	p.G702*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	702	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCCACTGAAGGATATTCTCC	0.507												
RYR2	6262	broad.mit.edu	37	1	237806708	237806708	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:237806708G>A	uc001hyl.1	+	48	7423	c.7303G>A	c.(7303-7305)GTT>ATT	p.V2435I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2435	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGGTGGGCGTTATCAGCAT	0.433												
RYR2	6262	broad.mit.edu	37	1	237947057	237947057	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:237947057A>T	uc001hyl.1	+	90	12165	c.12045A>T	c.(12043-12045)AAA>AAT	p.K4015N	RYR2_uc010pya.1_Missense_Mutation_p.K430N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4015					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATTCTCAAATTTTTTGACA	0.403												
PLD5	200150	broad.mit.edu	37	1	242277235	242277235	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:242277235C>T	uc001hzn.1	-	7	1154	c.1027G>A	c.(1027-1029)GCT>ACT	p.A343T	PLD5_uc001hzl.3_Missense_Mutation_p.A281T|PLD5_uc001hzm.3_Missense_Mutation_p.A133T|PLD5_uc001hzo.1_Missense_Mutation_p.A251T			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	343						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TCCATGACAGCGATGTACACA	0.453												
SCCPDH	51097	broad.mit.edu	37	1	246903516	246903516	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:246903516G>T	uc001ibr.2	+	4	774	c.427G>T	c.(427-429)GAC>TAC	p.D143Y		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	143						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			ovary(1)	1	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GAAAGCTGCAGACAAAGGGGT	0.348												
OR2B11	127623	broad.mit.edu	37	1	247614943	247614943	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:247614943C>T	uc010pyx.1	-	1	342	c.342G>A	c.(340-342)ACG>ACA	p.T114T		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	114	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CGATGCACTCCGTGCATCCCA	0.597												
OR2G3	81469	broad.mit.edu	37	1	247769083	247769083	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:247769083C>A	uc010pyz.1	+	1	196	c.196C>A	c.(196-198)CTC>ATC	p.L66I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTCAGCAACCTCTCTTTACT	0.448												
OR11L1	391189	broad.mit.edu	37	1	248004808	248004808	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:248004808G>A	uc001idn.1	-	1	391	c.391C>T	c.(391-393)CGC>TGC	p.R131C		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGGGTAGCGGAGTGGGCTG	0.587												
OR2L8	391190	broad.mit.edu	37	1	248112563	248112563	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:248112563T>C	uc001idt.1	+	1	404	c.404T>C	c.(403-405)ATG>ACG	p.M135T	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	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;0.0152)			CTCATCCGCATGAGCAAAAGA	0.433												
OR2T12	127064	broad.mit.edu	37	1	248458349	248458349	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:248458349C>T	uc010pzj.1	-	1	532	c.532G>A	c.(532-534)GAG>AAG	p.E178K		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACGGGGGCCTCGCAGAAGAAG	0.567												
OR2M7	391196	broad.mit.edu	37	1	248487386	248487386	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:248487386G>A	uc010pzk.1	-	1	485	c.485C>T	c.(484-486)GCG>GTG	p.A162V		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	162	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	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)			GGAAAATGTCGCTACAGCATC	0.453												
ZNF692	55657	broad.mit.edu	37	1	249151606	249151606	+	Missense_Mutation	SNP	C	C	T	rs143513211		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:249151606C>T	uc001ifc.1	-	4	469	c.302G>A	c.(301-303)CGG>CAG	p.R101Q	ZNF692_uc001iez.1_5'Flank|ZNF692_uc001ifa.1_5'UTR|ZNF692_uc001ifb.1_5'UTR|ZNF692_uc001ifd.1_Missense_Mutation_p.R101Q|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.R101Q|ZNF692_uc010pzr.1_Missense_Mutation_p.R106Q	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCCAGGCCCCCGAAGCCCGGG	0.632												
ZMYND11	10771	broad.mit.edu	37	10	255984	255984	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:255984A>G	uc010pzt.1	+	3	700	c.272A>G	c.(271-273)GAG>GGG	p.E91G	ZMYND11_uc001ifk.2_Missense_Mutation_p.E91G|ZMYND11_uc010pzu.1_Missense_Mutation_p.E91G|ZMYND11_uc010pzv.1_Missense_Mutation_p.E91G|ZMYND11_uc010pzw.1_Missense_Mutation_p.E91G|ZMYND11_uc001ifm.2_Missense_Mutation_p.E91G|ZMYND11_uc010pzx.1_Missense_Mutation_p.E91G|ZMYND11_uc001ifn.2_Missense_Mutation_p.E91G|ZMYND11_uc009xhg.2_Missense_Mutation_p.E74G|ZMYND11_uc009xhh.2_Missense_Mutation_p.E45G|ZMYND11_uc010pzy.1_Missense_Mutation_p.E45G	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	51					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCAGGAGATGAGATTGTAAGT	0.323												
DIP2C	22982	broad.mit.edu	37	10	394598	394598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:394598C>T	uc001ifp.2	-	26	3304	c.3214G>A	c.(3214-3216)GTC>ATC	p.V1072I	DIP2C_uc009xhi.1_Missense_Mutation_p.V458I	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1072						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATCATCTTGACGGTAGGCAAC	0.572												
C10orf18	54906	broad.mit.edu	37	10	5777426	5777426	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:5777426C>A	uc001iij.2	+	12	1989	c.1364C>A	c.(1363-1365)CCT>CAT	p.P455H	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	455										ovary(1)|central_nervous_system(1)	2						GCTAAGCCACCTGTGAAGAAA	0.408												
CDC123	8872	broad.mit.edu	37	10	12288245	12288245	+	Missense_Mutation	SNP	G	G	A	rs142243159		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:12288245G>A	uc001ill.2	+	11	1099	c.815G>A	c.(814-816)GGC>GAC	p.G272D	CDC123_uc001ilm.2_Missense_Mutation_p.G284D	NM_006023	NP_006014	O75794	CD123_HUMAN	cell division cycle 123	272					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)	1						AACTTAAACGGCGATTTTAGT	0.418												
CUBN	8029	broad.mit.edu	37	10	17061870	17061870	+	Missense_Mutation	SNP	C	C	T	rs139600855		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:17061870C>T	uc001ioo.2	-	28	4182	c.4130G>A	c.(4129-4131)CGC>CAC	p.R1377H		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1377	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTCTCACGGCGGCCAACCCC	0.502												
ARMC3	219681	broad.mit.edu	37	10	23235188	23235188	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:23235188A>C	uc001irm.3	+	3	247	c.164A>C	c.(163-165)AAA>ACA	p.K55T	ARMC3_uc010qcv.1_Missense_Mutation_p.K55T|ARMC3_uc010qcw.1_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	55							binding				0						TTTGCTTTAAAAGGTTTGGAT	0.308												
ANKRD26	22852	broad.mit.edu	37	10	27311608	27311608	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:27311608T>C	uc001ith.2	-	29	4263	c.4091A>G	c.(4090-4092)AAC>AGC	p.N1364S	ANKRD26_uc001itg.2_Missense_Mutation_p.N1051S|ANKRD26_uc009xku.1_Missense_Mutation_p.N1365S	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1364	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TTTTAAGAGGTTCTTAAATCT	0.259												
SVIL	6840	broad.mit.edu	37	10	29821496	29821496	+	Silent	SNP	C	C	T	rs144823074		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:29821496C>T	uc001iut.1	-	8	2553	c.1800G>A	c.(1798-1800)GCG>GCA	p.A600A	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Silent_p.A600A	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	600					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				ATGCCAGGAACGCACTTCGGA	0.582												
C10orf68	79741	broad.mit.edu	37	10	33018260	33018260	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:33018260C>T	uc001iwn.3	+	10	1174	c.701C>T	c.(700-702)ACG>ATG	p.T234M	C10orf68_uc001iwl.1_Missense_Mutation_p.T242M|C10orf68_uc001iwm.1_Missense_Mutation_p.T210M|C10orf68_uc010qei.1_Missense_Mutation_p.T146M|C10orf68_uc001iwo.3_RNA	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	234										skin(2)|ovary(1)	3						TTCTATTTAGCGTTTCCTTTA	0.313												
CUL2	8453	broad.mit.edu	37	10	35299267	35299267	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:35299267G>A	uc001ixv.2	-	21	2420	c.2210C>T	c.(2209-2211)TCG>TTG	p.S737L	CUL2_uc009xma.2_Missense_Mutation_p.S606L|CUL2_uc010qer.1_Missense_Mutation_p.S756L|CUL2_uc001ixw.2_Missense_Mutation_p.S737L	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	737					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3						TTCATCTGCCGACGCCTGGCT	0.463												
GJD4	219770	broad.mit.edu	37	10	35896743	35896743	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:35896743C>T	uc001iyy.1	+	2	460	c.302C>T	c.(301-303)GCC>GTC	p.A101V		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	connexin40.1	101	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane				large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CACCGAGGAGCCACGCTCGCC	0.746												
PCDH15	65217	broad.mit.edu	37	10	55582606	55582606	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:55582606G>A	uc001jju.1	-	33	5275	c.4880C>T	c.(4879-4881)ACA>ATA	p.T1627I	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.T1624I|PCDH15_uc010qhw.1_Missense_Mutation_p.T1587I|PCDH15_uc010qhx.1_Missense_Mutation_p.T1558I|PCDH15_uc010qhy.1_Missense_Mutation_p.T1634I|PCDH15_uc010qhz.1_Missense_Mutation_p.T1629I|PCDH15_uc010qia.1_Missense_Mutation_p.T1607I|PCDH15_uc010qib.1_Missense_Mutation_p.T1604I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1627	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCTTCAGTTGTAAGCAATGG	0.413										HNSCC(58;0.16)		
ANK3	288	broad.mit.edu	37	10	61833777	61833777	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:61833777T>C	uc001jky.2	-	37	7054	c.6862A>G	c.(6862-6864)AAA>GAA	p.K2288E	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2288					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GCCAGTTCTTTGGAAGGATCC	0.502												
ZNF365	22891	broad.mit.edu	37	10	64403708	64403708	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:64403708C>T	uc001jmd.1	+	2	357	c.23C>T	c.(22-24)ACC>ATC	p.T8I	ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_RNA|ZNF365_uc001jmf.1_RNA|ZNF365_uc009xpg.1_RNA	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	8										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTCAGATAACCATCACTGTC	0.458												
EGR2	1959	broad.mit.edu	37	10	64574120	64574120	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:64574120A>G	uc010qim.1	-	3	432	c.278T>C	c.(277-279)ATG>ACG	p.M93T	EGR2_uc010qin.1_Missense_Mutation_p.M43T|EGR2_uc001jmi.2_Missense_Mutation_p.M93T|EGR2_uc010qio.1_Missense_Mutation_p.M106T|EGR2_uc009xph.2_Missense_Mutation_p.M93T	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	93					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAACTTGCCCATGTAAGTGAA	0.507												
DLG5	9231	broad.mit.edu	37	10	79614032	79614032	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:79614032G>A	uc001jzk.2	-	4	703	c.633C>T	c.(631-633)AAC>AAT	p.N211N	DLG5_uc001jzj.2_5'Flank|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	211					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCTTCAAGGCGTTGGTGTGCT	0.592												
IFIT2	3433	broad.mit.edu	37	10	91066903	91066903	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:91066903A>C	uc009xts.2	+	2	1365	c.1190A>C	c.(1189-1191)GAG>GCG	p.E397A	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	397	TPR 6.				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				CACTTTATAGAGGGTGTAAAA	0.403												
RPP30	10556	broad.mit.edu	37	10	92656136	92656136	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:92656136G>A	uc009xtx.2	+	10	719	c.684G>A	c.(682-684)GCG>GCA	p.A228A	RPP30_uc001khd.2_Silent_p.A228A	NM_006413	NP_006404	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit isoform b	228					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0						GCCGAGCAGCGCTTCTCCATG	0.478												
MYOF	26509	broad.mit.edu	37	10	95076536	95076536	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:95076536C>T	uc001kin.2	-	50	5756	c.5633G>A	c.(5632-5634)CGA>CAA	p.R1878Q	MYOF_uc001kio.2_Missense_Mutation_p.R1865Q|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1878	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						GGGTGGGATTCGAAATTCCGT	0.403												
CNNM1	26507	broad.mit.edu	37	10	101147941	101147941	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:101147941G>A	uc001kpp.3	+	9	2846	c.2557G>A	c.(2557-2559)GAG>AAG	p.E853K	CNNM1_uc010qpi.1_Missense_Mutation_p.E874K|CNNM1_uc009xwf.2_Intron|CNNM1_uc009xwg.2_Missense_Mutation_p.E253K	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	853					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AAGCCCCAGCGAGGTAGTGTA	0.607												
CPN1	1369	broad.mit.edu	37	10	101824970	101824970	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:101824970G>A	uc001kql.2	-	4	994	c.734C>T	c.(733-735)ACG>ATG	p.T245M		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	245	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTCGTCAGGCGTGGGGGTGCT	0.607												
C10orf2	56652	broad.mit.edu	37	10	102749148	102749148	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:102749148G>A	uc001ksf.2	+	1	1856	c.1181G>A	c.(1180-1182)CGC>CAC	p.R394H	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.R394H|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	394	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CGCTGGAGCCGCTTTCCAGAC	0.542												
PDCD11	22984	broad.mit.edu	37	10	105178275	105178275	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:105178275C>A	uc001kwy.1	+	15	2077	c.1990C>A	c.(1990-1992)CTC>ATC	p.L664I		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	664	S1 motif 7.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCGTGCTTTCCTCCCCACATC	0.537												
ABLIM1	3983	broad.mit.edu	37	10	116247743	116247743	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:116247743A>T	uc010qsg.1	-	8	1114	c.1015T>A	c.(1015-1017)TCT>ACT	p.S339T	ABLIM1_uc010qsh.1_Missense_Mutation_p.S279T|ABLIM1_uc010qsi.1_Missense_Mutation_p.S279T|ABLIM1_uc010qsk.1_Missense_Mutation_p.S263T|ABLIM1_uc009xyp.2_Missense_Mutation_p.S273T|ABLIM1_uc010qsf.1_Missense_Mutation_p.S23T|ABLIM1_uc009xyn.2_Missense_Mutation_p.S16T|ABLIM1_uc010qsj.1_Missense_Mutation_p.S16T|ABLIM1_uc009xyo.2_Missense_Mutation_p.S187T	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	339	LIM zinc-binding 4.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTCTTCGTAGATTGCTTACAG	0.483												
BAG3	9531	broad.mit.edu	37	10	121429568	121429568	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:121429568C>T	uc001lem.2	+	2	692	c.386C>T	c.(385-387)GCG>GTG	p.A129V	BAG3_uc001lel.2_Missense_Mutation_p.A129V	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	129	WW 2.				anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GCGGCAGCAGCGGCTCCTCAG	0.632												
SEC23IP	11196	broad.mit.edu	37	10	121691686	121691686	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:121691686C>T	uc001leu.1	+	16	2686	c.2614C>T	c.(2614-2616)CAG>TAG	p.Q872*	SEC23IP_uc010qtc.1_Nonsense_Mutation_p.Q661*|SEC23IP_uc009xzk.1_RNA	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	872	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGATTTGAAGCAGGGTTTTAT	0.408												
TACC2	10579	broad.mit.edu	37	10	123842944	123842944	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:123842944G>A	uc001lfv.2	+	4	1289	c.929G>A	c.(928-930)TGC>TAC	p.C310Y	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.C310Y|TACC2_uc010qtv.1_Missense_Mutation_p.C310Y	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	310						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTCAGGGCCTGCCATCTCCCT	0.582												
MTG1	92170	broad.mit.edu	37	10	135233048	135233048	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:135233048G>A	uc001lnd.2	+	10	921	c.817G>A	c.(817-819)GCT>ACT	p.A273T	MTG1_uc010qve.1_Missense_Mutation_p.A138T	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	GTP_binding protein precursor	273						mitochondrion	GTP binding|protein binding			skin(1)	1		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GAAGAGTGTGGCTGTGAAGCT	0.647												
RNH1	6050	broad.mit.edu	37	11	502099	502099	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:502099C>T	uc001lpk.1	-	1	1472	c.64G>A	c.(64-66)GAG>AAG	p.E22K	RNH1_uc001lpl.1_Missense_Mutation_p.E22K|RNH1_uc001lpm.1_Missense_Mutation_p.E22K|RNH1_uc001lpn.1_Missense_Mutation_p.E22K|RNH1_uc001lpo.1_Missense_Mutation_p.E22K|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.E22K|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Missense_Mutation_p.E22K|RNH1_uc001lpr.1_Missense_Mutation_p.E22K|RNH1_uc001lps.1_Missense_Mutation_p.E22K|RNH1_uc009ybx.1_Missense_Mutation_p.E22K	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	22	LRR 1.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGGAGCTCGGCCCATCTA	0.667												
PHRF1	57661	broad.mit.edu	37	11	598487	598487	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:598487C>T	uc001lqe.2	+	9	1140	c.1009C>T	c.(1009-1011)CGG>TGG	p.R337W	PHRF1_uc010qwc.1_Missense_Mutation_p.R337W|PHRF1_uc010qwd.1_Missense_Mutation_p.R336W|PHRF1_uc010qwe.1_Missense_Mutation_p.R333W|PHRF1_uc009ybz.1_Missense_Mutation_p.R128W	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	337	Arg-rich.						RNA polymerase binding|zinc ion binding				0						TCCCGCCCGACGGAAGAGGAA	0.657												
OR51G1	79324	broad.mit.edu	37	11	4945194	4945194	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:4945194C>T	uc010qyr.1	-	1	376	c.376G>A	c.(376-378)GTG>ATG	p.V126M		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGACGGCCACGTAGCGGTCA	0.507												
DENND5A	23258	broad.mit.edu	37	11	9161272	9161272	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:9161272C>T	uc001mhl.2	-	23	4065	c.3810G>A	c.(3808-3810)TTG>TTA	p.L1270L	DENND5A_uc001mhk.2_Silent_p.L613L|DENND5A_uc010rbw.1_3'UTR	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	1270	RUN 2.									liver(1)	1						TGAACTCCTGCAATGTCTGCA	0.532												
LGR4	55366	broad.mit.edu	37	11	27390555	27390555	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:27390555G>A	uc001mrj.3	-	18	2200	c.1715C>T	c.(1714-1716)TCG>TTG	p.S572L	LGR4_uc001mrk.3_Missense_Mutation_p.S548L	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	572	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						CAATTTGGACGAAGGCAGTGA	0.378												
HIPK3	10114	broad.mit.edu	37	11	33362656	33362656	+	Missense_Mutation	SNP	G	G	A	rs140757794	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:33362656G>A	uc001mul.1	+	7	2026	c.1756G>A	c.(1756-1758)GGA>AGA	p.G586R	HIPK3_uc001mum.1_Missense_Mutation_p.G586R|HIPK3_uc009yjv.1_Missense_Mutation_p.G586R	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	586					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TACTAAAATCGGAACATTAAG	0.318												
C11orf41	25758	broad.mit.edu	37	11	33565180	33565180	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:33565180G>T	uc001mup.3	+	1	1304	c.1180G>T	c.(1180-1182)GCA>TCA	p.A394S	C11orf41_uc001mun.1_Missense_Mutation_p.A394S	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	394						integral to membrane				ovary(2)	2						GAAAAAGCCAGCAACCACAGA	0.428											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C11orf41	25758	broad.mit.edu	37	11	33565323	33565323	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:33565323A>G	uc001mup.3	+	1	1447	c.1323A>G	c.(1321-1323)TTA>TTG	p.L441L	C11orf41_uc001mun.1_Silent_p.L441L	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	441						integral to membrane				ovary(2)	2						AAACTCATTTAGCTCCAACAG	0.418											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PHF21A	51317	broad.mit.edu	37	11	46001356	46001356	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:46001356G>A	uc001ncc.3	-	6	939	c.315C>T	c.(313-315)CAC>CAT	p.H105H	PHF21A_uc001ncb.3_Silent_p.H105H|PHF21A_uc009ykx.2_Silent_p.H105H|PHF21A_uc001nce.2_Silent_p.H105H	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	105	Gln-rich.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						actgctgggcgtggtggtggt	0.259												
AMBRA1	55626	broad.mit.edu	37	11	46455113	46455113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:46455113G>A	uc010rgu.1	-	14	3247	c.2887C>T	c.(2887-2889)CGA>TGA	p.R963*	AMBRA1_uc010rgt.1_Nonsense_Mutation_p.R529*|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.R934*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.R873*|AMBRA1_uc001ncv.2_Nonsense_Mutation_p.R966*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.R844*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.R903*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	963					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		p.R873*(1)		large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGGATCCTTCGTGAGGCCAAG	0.562												
LRP4	4038	broad.mit.edu	37	11	46895077	46895077	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:46895077G>T	uc001ndn.3	-	29	4443	c.4297C>A	c.(4297-4299)CTG>ATG	p.L1433M	uc001ndl.2_RNA	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1433	Extracellular (Potential).|LDL-receptor class B 16.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		TCCACTGCCAGCCCGTCAGTG	0.587												
PSMC3	5702	broad.mit.edu	37	11	47444173	47444173	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:47444173G>A	uc001nfh.2	-	8	1030	c.836C>T	c.(835-837)GCG>GTG	p.A279V	PSMC3_uc009ylr.1_Missense_Mutation_p.A237V	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3	279					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GATAGAGGGCGCTTTCTCCTT	0.587												
RAPSN	5913	broad.mit.edu	37	11	47470379	47470379	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:47470379C>T	uc001nfi.1	-	1	352	c.138G>A	c.(136-138)CTG>CTA	p.L46L	RAPSN_uc001nfj.1_Silent_p.L46L|RAPSN_uc009yls.1_Silent_p.L46L	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	43 kD receptor-associated protein of the synapse	46					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			ovary(1)	1						CCAGGCAGCCCAGCACGCGGA	0.647												
PTPRJ	5795	broad.mit.edu	37	11	48149351	48149351	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:48149351C>T	uc001ngp.3	+	7	1468	c.1113C>T	c.(1111-1113)GAC>GAT	p.D371D	PTPRJ_uc001ngo.3_Silent_p.D371D	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	371	Extracellular (Potential).|Fibronectin type-III 4.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						AGGTTTTTGACGTCACCGCTG	0.493												
OR5D13	390142	broad.mit.edu	37	11	55541171	55541171	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:55541171C>T	uc010ril.1	+	1	258	c.258C>T	c.(256-258)AAC>AAT	p.N86N		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				TGTTGGAGAACTTGGTTGTGG	0.383												
OR5R1	219479	broad.mit.edu	37	11	56185444	56185444	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:56185444G>A	uc010rji.1	-	1	265	c.265C>T	c.(265-267)CGC>TGC	p.R89C		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					ATGGTGTTGCGTTCCACAACA	0.463												
OR5M9	390162	broad.mit.edu	37	11	56230791	56230791	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:56230791G>T	uc010rjj.1	-	1	87	c.87C>A	c.(85-87)TTC>TTA	p.F29L		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					AAACCGCTAGGAACACCACAA	0.438												
OR4D9	390199	broad.mit.edu	37	11	59282922	59282922	+	Silent	SNP	C	C	T	rs145873782		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:59282922C>T	uc010rkv.1	+	1	537	c.537C>T	c.(535-537)TGC>TGT	p.C179C		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTTTCTACTGCGATGTCCCCC	0.493												
ATG2A	23130	broad.mit.edu	37	11	64679671	64679671	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:64679671C>T	uc001obx.2	-	8	1088	c.973G>A	c.(973-975)GAA>AAA	p.E325K		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	325							protein binding			ovary(1)|central_nervous_system(1)	2						CACAGGTCTTCGGCACCTAGC	0.652												
DKFZp761E198	91056	broad.mit.edu	37	11	65545526	65545526	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:65545526C>T	uc001ofo.3	-	1	2297	c.2267G>A	c.(2266-2268)CGC>CAC	p.R756H		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	756							protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		CTCCAGGTGGCGGGACACCAA	0.637												
CNIH2	254263	broad.mit.edu	37	11	66050763	66050763	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:66050763C>T	uc001ohi.1	+	5	588	c.356C>T	c.(355-357)GCG>GTG	p.A119V	CNIH2_uc001ohh.2_Missense_Mutation_p.A119V|CNIH2_uc009yrb.1_RNA	NM_182553	NP_872359	Q6PI25	CNIH2_HUMAN	cornichon homolog 2	119	Cytoplasmic (Potential).				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding				0						ATGTATGATGCGGTCTCCATC	0.547											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TBX10	347853	broad.mit.edu	37	11	67402652	67402652	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:67402652C>T	uc001omp.2	-	2	178	c.90G>A	c.(88-90)CGG>CGA	p.R30R		NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	30					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GTGACCCCAGCCGGGGCTCCC	0.642												
SAPS3	55291	broad.mit.edu	37	11	68338536	68338536	+	Missense_Mutation	SNP	G	G	A	rs148673066		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:68338536G>A	uc001onw.2	+	12	1574	c.1307G>A	c.(1306-1308)CGA>CAA	p.R436Q	SAPS3_uc001onv.2_Missense_Mutation_p.R436Q|SAPS3_uc001ony.3_Missense_Mutation_p.R436Q|SAPS3_uc001onx.2_Missense_Mutation_p.R436Q|SAPS3_uc009ysh.2_Missense_Mutation_p.R385Q|SAPS3_uc001onu.2_Missense_Mutation_p.R385Q|SAPS3_uc010rqc.1_Missense_Mutation_p.R204Q|SAPS3_uc010rqd.1_Missense_Mutation_p.R148Q	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	436					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			TTAATAGAACGAATACTTGAA	0.284												
MRGPRD	116512	broad.mit.edu	37	11	68748320	68748320	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:68748320T>G	uc010rqf.1	-	1	136	c.136A>C	c.(136-138)AGC>CGC	p.S46R		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	46	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATCACCATGCTGTTGCCTGCC	0.582												
TPCN2	219931	broad.mit.edu	37	11	68835058	68835058	+	Missense_Mutation	SNP	G	G	A	rs142288453	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:68835058G>A	uc001oos.2	+	8	930	c.814G>A	c.(814-816)GCC>ACC	p.A272T	TPCN2_uc009ysk.1_Intron|TPCN2_uc001oor.2_Missense_Mutation_p.A187T|TPCN2_uc010rqg.1_Missense_Mutation_p.A272T	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	272					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCTGACCACGGCCAACAACCC	0.637												
CTTN	2017	broad.mit.edu	37	11	70266595	70266595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:70266595C>T	uc001opv.3	+	10	975	c.769C>T	c.(769-771)CAG>TAG	p.Q257*	CTTN_uc001opu.2_Nonsense_Mutation_p.Q257*|CTTN_uc001opw.3_Nonsense_Mutation_p.Q257*|CTTN_uc010rqm.1_5'UTR|CTTN_uc001opx.2_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	257	Cortactin 5.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGAGAAATTGCAGCTGCATGA	0.448												
FOLR1	2348	broad.mit.edu	37	11	71906954	71906954	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:71906954C>T	uc001orz.1	+	6	645	c.507C>T	c.(505-507)TGC>TGT	p.C169C	FOLR1_uc001osa.1_Silent_p.C169C|FOLR1_uc001osb.1_Silent_p.C169C|FOLR1_uc001osc.1_Silent_p.C169C|FOLR1_uc001osd.1_Silent_p.C169C	NM_016724	NP_057936	P15328	FOLR1_HUMAN	folate receptor 1 precursor	169					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			ovary(1)	1						TTAACAAGTGCGCAGTGGGAG	0.512												
RELT	84957	broad.mit.edu	37	11	73106534	73106534	+	Nonstop_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:73106534T>C	uc001otv.2	+	11	1456	c.1291T>C	c.(1291-1293)TGA>CGA	p.*431R	RELT_uc001otw.2_Nonstop_Mutation_p.*431R|RELT_uc001otx.2_RNA	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	431						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						cctggtcatctgaggggcggt	0.03												
NEU3	10825	broad.mit.edu	37	11	74717419	74717419	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:74717419C>T	uc001ovw.2	+	3	1424	c.1268C>T	c.(1267-1269)ACC>ATC	p.T423I	NEU3_uc001ovv.2_Missense_Mutation_p.T413I|NEU3_uc010rrl.1_Missense_Mutation_p.T314I	NM_006656	NP_006647	A8K327	A8K327_HUMAN	sialidase 3	423										ovary(2)	2						GAATGTGGGACCAAGCAAGAG	0.587												
PRKRIR	5612	broad.mit.edu	37	11	76062779	76062779	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:76062779C>T	uc001oxh.1	-	5	1415	c.1415G>A	c.(1414-1416)AGT>AAT	p.S472N	PRKRIR_uc010rrz.1_Missense_Mutation_p.S297N	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	472					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						TGACACTGCACTGCAGAGTAC	0.368												
LRRC32	2615	broad.mit.edu	37	11	76372210	76372210	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:76372210G>A	uc001oxq.3	-	3	670	c.427C>T	c.(427-429)CGG>TGG	p.R143W	LRRC32_uc001oxr.3_Missense_Mutation_p.R143W|LRRC32_uc010rsf.1_Missense_Mutation_p.R143W	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	143	Extracellular (Potential).|LRR 4.					integral to plasma membrane					0						CCCAGCAGCCGCTCCAGCAGG	0.687												
CCDC90B	60492	broad.mit.edu	37	11	82989836	82989836	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:82989836G>A	uc001pae.2	-	3	619	c.257C>T	c.(256-258)GCG>GTG	p.A86V	CCDC90B_uc001pac.2_5'UTR|CCDC90B_uc001pad.2_5'UTR|CCDC90B_uc001paf.2_Missense_Mutation_p.A77V	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B precursor	86						integral to membrane|mitochondrion|mitochondrion					0		Acute lymphoblastic leukemia(157;0.103)				AGCAGTTAACGCTGATACAAT	0.333												
HEPHL1	341208	broad.mit.edu	37	11	93796776	93796776	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:93796776C>T	uc001pep.2	+	3	675	c.518C>T	c.(517-519)GCA>GTA	p.A173V		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	173	Plastocyanin-like 1.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GAAGAATATGCACCTACTCCA	0.537												
KBTBD3	143879	broad.mit.edu	37	11	105929633	105929633	+	Silent	SNP	C	C	T	rs73554750	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:105929633C>T	uc001pja.2	-	3	832	c.192G>A	c.(190-192)CCG>CCA	p.P64P	KBTBD3_uc001pjb.2_Silent_p.P64P|KBTBD3_uc009yxm.2_Intron	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	BTB and kelch domain containing 3	60	BTB.									ovary(1)|central_nervous_system(1)	2		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AACGATGACACGGGATTATTT	0.303												
ATM	472	broad.mit.edu	37	11	108160475	108160475	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:108160475G>T	uc001pkb.1	+	29	4768	c.4383G>T	c.(4381-4383)TGG>TGT	p.W1461C	ATM_uc009yxr.1_Missense_Mutation_p.W1461C|ATM_uc001pkd.3_Missense_Mutation_p.W113C|ATM_uc001pke.1_Missense_Mutation_p.W113C|ATM_uc010rvw.1_Missense_Mutation_p.W113C|ATM_uc001pkf.2_Missense_Mutation_p.W113C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1461					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAGGAGCTTGGGCCTTTGTTC	0.299			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
ZC3H12C	85463	broad.mit.edu	37	11	110035729	110035729	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:110035729A>G	uc009yxw.2	+	6	1970	c.1919A>G	c.(1918-1920)TAC>TGC	p.Y640C	ZC3H12C_uc010rwc.1_Missense_Mutation_p.Y641C|ZC3H12C_uc010rwd.1_Missense_Mutation_p.Y641C|ZC3H12C_uc001pkr.3_Missense_Mutation_p.Y609C	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	640							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AGTGACTCCTACGTGGGTTAC	0.512												
ARHGAP20	57569	broad.mit.edu	37	11	110451319	110451319	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:110451319C>T	uc001pkz.1	-	16	2636	c.2351G>A	c.(2350-2352)GGT>GAT	p.G784D	ARHGAP20_uc001pky.1_Missense_Mutation_p.G761D|ARHGAP20_uc009yyb.1_Missense_Mutation_p.G748D|ARHGAP20_uc001pla.1_Missense_Mutation_p.G748D|ARHGAP20_uc001plb.2_Missense_Mutation_p.G327D	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	784					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTTCACTACCAGACAAGCT	0.413												
USP28	57646	broad.mit.edu	37	11	113699980	113699980	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:113699980G>A	uc001poh.2	-	10	1031	c.998C>T	c.(997-999)GCC>GTC	p.A333V	USP28_uc001pog.2_Missense_Mutation_p.A41V|USP28_uc010rwy.1_Missense_Mutation_p.A208V|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.A333V	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	333					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTCCACCATGGCCCCTTCCAA	0.478												
IL10RA	3587	broad.mit.edu	37	11	117869725	117869725	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:117869725A>C	uc001prv.2	+	7	1183	c.1106A>C	c.(1105-1107)GAC>GCC	p.D369A	IL10RA_uc010rxl.1_Missense_Mutation_p.D349A|IL10RA_uc010rxm.1_Missense_Mutation_p.D349A|IL10RA_uc010rxn.1_Missense_Mutation_p.D220A|IL10RA_uc001prw.2_Missense_Mutation_p.D220A	NM_001558	NP_001549	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha precursor	369	Cytoplasmic (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)		AATAGCACAGACAGCGGGATC	0.662												
MPZL3	196264	broad.mit.edu	37	11	118122995	118122995	+	Silent	SNP	T	T	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:118122995T>G	uc001psm.2	-	1	17	c.15A>C	c.(13-15)GGA>GGC	p.G5G	MPZL3_uc010rxy.1_Silent_p.G5G|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_RNA	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3 precursor	5					cell adhesion	integral to membrane					0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTCCAGCTGCTCCTCTCTGCT	0.622												
MLL	4297	broad.mit.edu	37	11	118343010	118343010	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:118343010C>T	uc001pta.2	+	3	1159	c.1136C>T	c.(1135-1137)GCA>GTA	p.A379V	MLL_uc001ptb.2_Missense_Mutation_p.A379V|MLL_uc001psz.1_Missense_Mutation_p.A412V|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	379					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TTACAGAGGGCAAAAAAGGGG	0.423			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
MFRP	83552	broad.mit.edu	37	11	119212679	119212679	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:119212679G>T	uc001pwj.2	-	12	1563	c.1403C>A	c.(1402-1404)CCT>CAT	p.P468H	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Intron	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CACCTGGACAGGCTCACAGGC	0.622												
GRIK4	2900	broad.mit.edu	37	11	120827494	120827494	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:120827494C>T	uc001pxn.2	+	16	1993	c.1706C>T	c.(1705-1707)ACG>ATG	p.T569M	GRIK4_uc009zav.1_Missense_Mutation_p.T569M|GRIK4_uc009zaw.1_Missense_Mutation_p.T569M|GRIK4_uc009zax.1_Missense_Mutation_p.T569M	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	569	Cytoplasmic (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CACAGGTTGACGCCCTACGAG	0.418												
TECTA	7007	broad.mit.edu	37	11	121016339	121016339	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:121016339G>A	uc010rzo.1	+	11	3619	c.3619G>A	c.(3619-3621)GTG>ATG	p.V1207M		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1207	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGGCTTCCACGTGGTGGTGGA	0.502												
C11orf63	79864	broad.mit.edu	37	11	122817342	122817342	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:122817342G>A	uc001pym.2	+	6	2068	c.1771G>A	c.(1771-1773)GTC>ATC	p.V591I		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	591										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CTTATCCAGCGTCACGCTTCC	0.502												
SRPR	6734	broad.mit.edu	37	11	126135176	126135176	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:126135176G>A	uc001qdh.2	-	10	1349	c.1298C>T	c.(1297-1299)ACT>ATT	p.T433I	SRPR_uc010sbm.1_Missense_Mutation_p.T405I	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	433					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GGCAAGATTAGTAGATTTCCC	0.507												
KIRREL3	84623	broad.mit.edu	37	11	126314880	126314880	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:126314880C>T	uc001qea.2	-	10	1607	c.1246G>A	c.(1246-1248)GTC>ATC	p.V416I	KIRREL3_uc001qeb.2_Missense_Mutation_p.V416I|KIRREL3_uc001qec.1_Missense_Mutation_p.V416I	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	416	Extracellular (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTACCATTGACGGTCAGGGTC	0.652												
ETS1	2113	broad.mit.edu	37	11	128391832	128391832	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:128391832C>T	uc010sbs.1	-	1	374	c.58G>A	c.(58-60)GAT>AAT	p.D20N	ETS1_uc001qej.2_Intron|ETS1_uc009zch.2_Missense_Mutation_p.D20N|ETS1_uc009zcg.2_Missense_Mutation_p.D20N	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	20					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		AGCTCCAGATCGACTTTTTCC	0.627												
ARHGAP32	9743	broad.mit.edu	37	11	128842462	128842462	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:128842462C>T	uc009zcp.2	-	21	3897	c.3897G>A	c.(3895-3897)ACG>ACA	p.T1299T	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.T258T|ARHGAP32_uc001qez.2_Silent_p.T950T	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1299					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TAGTTCTGTGCGTGCGCTGAA	0.552												
KCNA1	3736	broad.mit.edu	37	12	5021217	5021217	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:5021217G>A	uc001qnh.2	+	2	1778	c.673G>A	c.(673-675)GAA>AAA	p.E225K		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	225	Helical; Name=Segment S2; (Potential).				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTCATCGTGGAAACGCTGTG	0.512												
VWF	7450	broad.mit.edu	37	12	6120863	6120863	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:6120863C>T	uc001qnn.1	-	34	6012	c.5762G>A	c.(5761-5763)CGG>CAG	p.R1921Q	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1921					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CCTCAGCCCCCGGTCACAGTT	0.617												
CHD4	1108	broad.mit.edu	37	12	6703729	6703729	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:6703729A>G	uc001qpo.2	-	15	2373	c.2209T>C	c.(2209-2211)TTG>CTG	p.L737L	CHD4_uc001qpn.2_Silent_p.L730L|CHD4_uc001qpp.2_Silent_p.L734L	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	737					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GAGAAGCGCAACCAATTCAGG	0.517												
LPAR5	57121	broad.mit.edu	37	12	6729440	6729440	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:6729440C>T	uc009zer.2	-	2	1256	c.975G>A	c.(973-975)ACG>ACA	p.T325T	LPAR5_uc001qps.2_Silent_p.T325T|LPAR5_uc010sff.1_Silent_p.T325T	NM_001142961	NP_001136433	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	325	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2						GCGCCGCCCGCGTCCCGTTGG	0.716												
ENO2	2026	broad.mit.edu	37	12	7030885	7030885	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:7030885C>T	uc001qru.1	+	9	1229	c.1007C>T	c.(1006-1008)GCC>GTC	p.A336V	ENO2_uc009zfi.1_Missense_Mutation_p.A336V|ENO2_uc010sfq.1_Missense_Mutation_p.A293V|ENO2_uc001qrv.1_Missense_Mutation_p.A336V|ATN1_uc001qrw.1_5'Flank	NM_001975	NP_001966	P09104	ENOG_HUMAN	enolase 2	336					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity				0						GAAGAAAAGGCCTGCAACTGT	0.547												
PHB2	11331	broad.mit.edu	37	12	7075615	7075615	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:7075615G>A	uc001qsd.2	-	8	1048	c.838C>T	c.(838-840)CTG>TTG	p.L280L	PHB2_uc010sft.1_Silent_p.L242L|PHB2_uc001qse.1_RNA|PHB2_uc001qsf.1_RNA|PHB2_uc009zfn.1_Intron	NM_001144831	NP_001138303	Q99623	PHB2_HUMAN	prohibitin 2 isoform 1	280					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						TGTAGGTTCAGCACAAGGTTG	0.483												
FAM90A1	55138	broad.mit.edu	37	12	8374554	8374554	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:8374554G>A	uc001qui.2	-	7	1818	c.1259C>T	c.(1258-1260)CCG>CTG	p.P420L	FAM90A1_uc001quh.2_Missense_Mutation_p.P420L	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	420							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		GAAGGCTCCCGGCTTCTCAGG	0.602												
MFAP5	8076	broad.mit.edu	37	12	8803134	8803134	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:8803134G>A	uc001qut.1	-	8	512	c.299C>T	c.(298-300)CCG>CTG	p.P100L	MFAP5_uc001qus.2_Missense_Mutation_p.P90L|MFAP5_uc009zge.1_Missense_Mutation_p.P75L	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5 precursor	100						microfibril	extracellular matrix structural constituent			breast(1)	1	Lung SC(5;0.184)					TTGTTTAACCGGCCGATGCAC	0.433												
A2ML1	144568	broad.mit.edu	37	12	8988128	8988128	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:8988128A>C	uc001quz.3	+	6	607	c.509A>C	c.(508-510)CAG>CCG	p.Q170P		NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	14						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						AGGATTGCACAGTGGCTGGAA	0.522												
STYK1	55359	broad.mit.edu	37	12	10782235	10782235	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:10782235G>A	uc001qys.2	-	6	1011	c.490C>T	c.(490-492)CGA>TGA	p.R164*		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	164	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						AATTGGATTCGCCCTAAGAAA	0.512										HNSCC(73;0.22)		
GRIN2B	2904	broad.mit.edu	37	12	13716277	13716277	+	Missense_Mutation	SNP	G	G	A	rs45540034		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:13716277G>A	uc001rbt.2	-	13	4074	c.3895C>T	c.(3895-3897)CGC>TGC	p.R1299C		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1299	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCTGCCGGCGCAGTTTGTTC	0.612												
C12orf69	440087	broad.mit.edu	37	12	14959221	14959221	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:14959221C>T	uc001rck.1	-	2	467	c.394G>A	c.(394-396)GCT>ACT	p.A132T	WBP11_uc001rci.2_5'Flank|C12orf60_uc001rcj.3_Intron	NM_001013698	NP_001013720	A2RU48	CL069_HUMAN	hypothetical protein LOC440087	132						integral to membrane					0						AGTTTAACAGCGACTGCACTG	0.418												
TMTC1	83857	broad.mit.edu	37	12	29757135	29757135	+	Missense_Mutation	SNP	G	G	A	rs144467040		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:29757135G>A	uc001rjb.2	-	7	1376	c.902C>T	c.(901-903)GCG>GTG	p.A301V	TMTC1_uc001riz.2_Missense_Mutation_p.A58V|TMTC1_uc001rja.2_Missense_Mutation_p.A145V|TMTC1_uc001rjc.1_Missense_Mutation_p.A363V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	409	Helical; (Potential).					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GACTCTCTCCGCCACCACAAA	0.507												
DDX11	1663	broad.mit.edu	37	12	31245812	31245812	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:31245812C>T	uc001rjt.1	+	11	1526	c.1275C>T	c.(1273-1275)TAC>TAT	p.Y425Y	DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Silent_p.Y425Y|DDX11_uc001rjs.1_Silent_p.Y425Y|DDX11_uc001rju.1_Silent_p.Y103Y|DDX11_uc001rjv.1_Silent_p.Y425Y|DDX11_uc001rjw.1_Silent_p.Y399Y|DDX11_uc001rjx.1_Silent_p.Y103Y|DDX11_uc009zjn.1_RNA	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	425	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGCTGCAGTACGTGGAGCGAT	0.587										Multiple Myeloma(12;0.14)		
BICD1	636	broad.mit.edu	37	12	32446952	32446952	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:32446952A>G	uc001rku.2	+	3	532	c.451A>G	c.(451-453)AGA>GGA	p.R151G	BICD1_uc001rkv.2_Missense_Mutation_p.R151G|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	151	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGAGCTACAGAGAATACGGAT	0.383												
BICD1	636	broad.mit.edu	37	12	32490545	32490545	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:32490545G>A	uc001rku.2	+	7	2446	c.2365G>A	c.(2365-2367)GCC>ACC	p.A789T	BICD1_uc001rkv.2_Missense_Mutation_p.A789T|BICD1_uc010skd.1_RNA|BICD1_uc001rkw.1_Missense_Mutation_p.A71T	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	789	Potential.|Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCAAAAACTCGCCCTGACCCA	0.502												
FGD4	121512	broad.mit.edu	37	12	32777996	32777996	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:32777996G>T	uc001rkz.2	+	13	2106	c.1629G>T	c.(1627-1629)GAG>GAT	p.E543D	FGD4_uc001rlc.2_Missense_Mutation_p.E628D|FGD4_uc001rky.2_Missense_Mutation_p.E295D|FGD4_uc001rla.2_Missense_Mutation_p.E199D|FGD4_uc010ske.1_Missense_Mutation_p.E655D|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	543					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)					TTCACTCAGAGGTTTCTGTGA	0.358												
KIF21A	55605	broad.mit.edu	37	12	39756911	39756911	+	Silent	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:39756911G>T	uc001rly.2	-	7	1154	c.1008C>A	c.(1006-1008)CTC>CTA	p.L336L	KIF21A_uc001rlx.2_Silent_p.L336L|KIF21A_uc001rlz.2_Silent_p.L336L|KIF21A_uc010skl.1_Silent_p.L336L|KIF21A_uc001rma.1_Silent_p.L344L	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	336					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				TATTACCCCCGAGGGAATCCT	0.378												
PDZRN4	29951	broad.mit.edu	37	12	41966842	41966842	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:41966842G>A	uc010skn.1	+	10	1732	c.1664G>A	c.(1663-1665)CGT>CAT	p.R555H	PDZRN4_uc001rmq.3_Missense_Mutation_p.R496H|PDZRN4_uc009zjz.2_Missense_Mutation_p.R494H|PDZRN4_uc001rmr.2_Missense_Mutation_p.R381H	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	754							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ACTGTAGACCGTTCCCCTGAC	0.502												
PRICKLE1	144165	broad.mit.edu	37	12	42854270	42854270	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:42854270G>A	uc010skv.1	-	8	2124	c.1837C>T	c.(1837-1839)CCA>TCA	p.P613S	PRICKLE1_uc001rnl.2_Missense_Mutation_p.P613S|PRICKLE1_uc010skw.1_Missense_Mutation_p.P613S|PRICKLE1_uc001rnm.2_Missense_Mutation_p.P613S|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	613					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGATGTACTGGCTTCTCTTCA	0.458												
ANO6	196527	broad.mit.edu	37	12	45771877	45771877	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:45771877A>G	uc001roo.2	+	10	1481	c.1146A>G	c.(1144-1146)GCA>GCG	p.A382A	ANO6_uc010sld.1_Silent_p.A382A|ANO6_uc010sle.1_Silent_p.A382A|ANO6_uc010slf.1_Silent_p.A403A|ANO6_uc010slg.1_Silent_p.A364A	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	382	Helical; (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						TGGTCTTTGCAGTATTTATGG	0.323												
ANO6	196527	broad.mit.edu	37	12	45822989	45822989	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:45822989G>T	uc001roo.2	+	20	2963	c.2628G>T	c.(2626-2628)AAG>AAT	p.K876N	ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Missense_Mutation_p.K897N|ANO6_uc010slg.1_Missense_Mutation_p.K858N	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	876	Cytoplasmic (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						TAACCCAAAAGCTTCTTCATG	0.383												
ASB8	140461	broad.mit.edu	37	12	48547247	48547247	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:48547247G>A	uc001rrh.2	-	2	202	c.33C>T	c.(31-33)AGC>AGT	p.S11S	ASB8_uc010slr.1_Silent_p.S7S	NM_024095	NP_077000	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box-containing 8	11					intracellular signal transduction	cytoplasm|nucleus				kidney(1)	1						TGCTCTGAATGCTCTGCATAA	0.443												
CCNT1	904	broad.mit.edu	37	12	49086828	49086828	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:49086828G>A	uc001rse.1	-	9	2492	c.2169C>T	c.(2167-2169)CCC>CCT	p.P723P	LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Silent_p.P438P	NM_001240	NP_001231	O60563	CCNT1_HUMAN	cyclin T1	723	Pro-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			ovary(3)|lung(1)|breast(1)|skin(1)	6						ACTTAGGAAGGGGTGGAAGTG	0.388												
ADCY6	112	broad.mit.edu	37	12	49176653	49176653	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:49176653C>T	uc001rsh.3	-	1	1225	c.565G>A	c.(565-567)GCC>ACC	p.A189T	ADCY6_uc001rsj.3_Missense_Mutation_p.A189T|ADCY6_uc001rsi.3_Missense_Mutation_p.A189T	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	189	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						ACGAACAGGGCGGCGGCACAG	0.667												
MLL2	8085	broad.mit.edu	37	12	49444688	49444688	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:49444688C>T	uc001rta.3	-	10	2778	c.2778G>A	c.(2776-2778)TCG>TCA	p.S926S		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	926	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCAGCTGAGGCGACAAGGATG	0.547			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
AQP5	362	broad.mit.edu	37	12	50357276	50357276	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:50357276T>G	uc001rvo.2	+	2	887	c.365T>G	c.(364-366)CTC>CGC	p.L122R		NM_001651	NP_001642	P55064	AQP5_HUMAN	aquaporin 5	122	Extracellular (Potential).				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity				0						CCCTTGCAGCTCAACAACAAC	0.617												
ESPL1	9700	broad.mit.edu	37	12	53668729	53668729	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:53668729A>G	uc001sck.2	+	7	1726	c.1635A>G	c.(1633-1635)CCA>CCG	p.P545P	ESPL1_uc001scj.2_Silent_p.P220P	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	545					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						TGGCTGAGCCAGTCACTTTCT	0.478												
LRP1	4035	broad.mit.edu	37	12	57592321	57592321	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:57592321G>A	uc001snd.2	+	60	10010	c.9544G>A	c.(9544-9546)GTC>ATC	p.V3182I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3182	LDL-receptor class B 28.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCCGCAGCGTCATCGTGGA	0.597												
SHMT2	6472	broad.mit.edu	37	12	57626343	57626343	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:57626343C>T	uc001snf.1	+	6	712	c.702C>T	c.(700-702)TAC>TAT	p.Y234Y	SHMT2_uc001sng.1_Silent_p.Y130Y|SHMT2_uc001snh.1_Silent_p.Y73Y|SHMT2_uc009zpk.1_Silent_p.Y224Y|SHMT2_uc001sni.1_Silent_p.Y213Y|SHMT2_uc010srg.1_Silent_p.Y243Y|SHMT2_uc001snj.1_Silent_p.Y138Y|SHMT2_uc010srh.1_Silent_p.Y213Y|SHMT2_uc001snk.1_Silent_p.Y138Y|SHMT2_uc010sri.1_Silent_p.Y213Y|SHMT2_uc001snl.2_Silent_p.Y138Y|SHMT2_uc010srj.1_5'Flank	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	234						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TCATTGACTACGCCCGCATGA	0.642												
FRS2	10818	broad.mit.edu	37	12	69968091	69968091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:69968091C>T	uc001suy.2	+	10	1393	c.883C>T	c.(883-885)CGA>TGA	p.R295*	FRS2_uc001suz.2_Nonsense_Mutation_p.R295*|FRS2_uc009zrj.2_Nonsense_Mutation_p.R295*|FRS2_uc009zrk.2_Nonsense_Mutation_p.R295*	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	295					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			prostate(1)|kidney(1)	2	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CAGTGATGAACGAAGAGATGC	0.443												
TMTC2	160335	broad.mit.edu	37	12	83250837	83250837	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:83250837G>A	uc001szt.2	+	2	564	c.132G>A	c.(130-132)ACG>ACA	p.T44T	TMTC2_uc001szr.1_Silent_p.T44T|TMTC2_uc001szs.1_Silent_p.T44T|TMTC2_uc010suk.1_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	44						endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						CTCCATGGACGCACATTTTCT	0.423												
SLC6A15	55117	broad.mit.edu	37	12	85264301	85264301	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:85264301G>A	uc001szv.2	-	9	1944	c.1451C>T	c.(1450-1452)ACG>ATG	p.T484M	SLC6A15_uc010sul.1_Missense_Mutation_p.T377M|SLC6A15_uc001szw.1_Missense_Mutation_p.T192M	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	484					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						CACAATAGGCGTGACAATCCC	0.403												
CEP290	80184	broad.mit.edu	37	12	88478558	88478558	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:88478558A>G	uc001tar.2	-	35	4853	c.4509T>C	c.(4507-4509)AAT>AAC	p.N1503N	CEP290_uc001taq.2_Silent_p.N563N	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1503					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						GCCTCAGTTCATTGATTACTT	0.353												
ATP2B1	490	broad.mit.edu	37	12	90028814	90028814	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:90028814T>C	uc001tbh.2	-	3	802	c.621A>G	c.(619-621)GTA>GTG	p.V207V	ATP2B1_uc001tbg.2_Silent_p.V207V	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	207	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TAATGTCAGCTACAGGTATCT	0.378												
PLXNC1	10154	broad.mit.edu	37	12	94648663	94648663	+	Silent	SNP	C	C	T	rs115290199	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:94648663C>T	uc001tdc.2	+	16	3231	c.2982C>T	c.(2980-2982)GAC>GAT	p.D994D	PLXNC1_uc010sut.1_Silent_p.D41D	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	994	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						AGATACGTGACGGTAGGCTCC	0.433												
APAF1	317	broad.mit.edu	37	12	99102474	99102474	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:99102474C>T	uc001tfz.2	+	20	3410	c.2833C>T	c.(2833-2835)CGT>TGT	p.R945C	APAF1_uc001tfy.2_Missense_Mutation_p.R934C|APAF1_uc001tga.2_Missense_Mutation_p.R891C|APAF1_uc001tgb.2_Missense_Mutation_p.R902C|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.R311C	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	945					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	CCATATAAGACGTCTGCAAGT	0.318												
NUAK1	9891	broad.mit.edu	37	12	106461214	106461214	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:106461214G>A	uc001tlj.1	-	7	2732	c.1352C>T	c.(1351-1353)CCG>CTG	p.P451L		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	451							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						GAGTTTTCCCGGCACCTCTGC	0.557												
POLR3B	55703	broad.mit.edu	37	12	106786837	106786837	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:106786837T>C	uc001tlp.2	+	10	974	c.752T>C	c.(751-753)ATT>ACT	p.I251T	POLR3B_uc001tlq.2_Missense_Mutation_p.I193T	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	251					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						GACCAGGAAATTGTGCAGATG	0.453												
SELPLG	6404	broad.mit.edu	37	12	109016933	109016933	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:109016933A>G	uc001tni.2	-	2	1311	c.1151T>C	c.(1150-1152)CTG>CCG	p.L384P	SELPLG_uc001tnh.2_Missense_Mutation_p.L374P|SELPLG_uc010sxe.1_Missense_Mutation_p.L400P	NM_003006	NP_002997	Q14242	SELPL_HUMAN	selectin P ligand	384	Cytoplasmic (Potential).				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding				0						GGCCTTGGACAGGCCCCCATT	0.637												
SSH1	54434	broad.mit.edu	37	12	109192889	109192889	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:109192889G>A	uc001tnm.2	-	13	1323	c.1236C>T	c.(1234-1236)TTC>TTT	p.F412F	SSH1_uc001tnl.2_Silent_p.F100F|SSH1_uc010sxg.1_Silent_p.F423F|SSH1_uc001tnn.3_Silent_p.F412F	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	412	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						GAGGCCAGCCGAATTCCTTCA	0.542												
ACACB	32	broad.mit.edu	37	12	109704115	109704115	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:109704115G>A	uc001tob.2	+	53	7444	c.7325G>A	c.(7324-7326)CGG>CAG	p.R2442Q	ACACB_uc001toc.2_Missense_Mutation_p.R2442Q|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.R1108Q	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2442					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CCAGCTGAGCGGGCGCAGGTC	0.652												
MYL2	4633	broad.mit.edu	37	12	111348961	111348961	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:111348961C>T	uc001try.3	-	7	492	c.421G>A	c.(421-423)GCC>ACC	p.A141T	MYL2_uc001trx.3_Missense_Mutation_p.A122T	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	141	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						GGGGGGAAGGCGGCGAACATC	0.627												
NAA25	80018	broad.mit.edu	37	12	112485518	112485518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:112485518G>A	uc001ttm.2	-	17	1977	c.1957C>T	c.(1957-1959)CGA>TGA	p.R653*	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.R625*|NAA25_uc009zwa.1_Nonsense_Mutation_p.R653*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	653						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						CTGTTGTCTCGCAAATCTTCC	0.353												
NOS1	4842	broad.mit.edu	37	12	117664550	117664550	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:117664550G>A	uc001twm.1	-	24	4328	c.3642C>T	c.(3640-3642)GGC>GGT	p.G1214G		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1214	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGGAGCATACGCCGTGGTGAA	0.542												
MLXIP	22877	broad.mit.edu	37	12	122614587	122614587	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:122614587G>A	uc001ubq.2	+	6	838	c.838G>A	c.(838-840)GAA>AAA	p.E280K	MLXIP_uc001ubr.2_Missense_Mutation_p.E31K|MLXIP_uc001ubs.1_5'Flank	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	280	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GCTCATGTCGGAATTCAGCGA	0.582												
VPS33A	65082	broad.mit.edu	37	12	122723199	122723199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:122723199G>A	uc001ucd.2	-	10	1350	c.1237C>T	c.(1237-1239)CAA>TAA	p.Q413*	VPS33A_uc001ucc.2_RNA	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	413					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			skin(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CACACGGATTGGAGGCAAACT	0.338												
CLIP1	6249	broad.mit.edu	37	12	122845598	122845598	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:122845598C>T	uc001ucg.1	-	4	1019	c.913G>A	c.(913-915)GCC>ACC	p.A305T	CLIP1_uc001uch.1_Missense_Mutation_p.A305T|CLIP1_uc001uci.1_Missense_Mutation_p.A305T|CLIP1_uc001ucj.1_Missense_Mutation_p.A6T|CLIP1_uc010tae.1_Missense_Mutation_p.A305T	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	305	Ser-rich.				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)		TTCAGGCTGGCGGACGTGGTC	0.602												
NCOR2	9612	broad.mit.edu	37	12	124827627	124827627	+	Silent	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:124827627G>T	uc010tba.1	-	33	5001	c.4884C>A	c.(4882-4884)GGC>GGA	p.G1628G	NCOR2_uc010tay.1_Silent_p.G1627G|NCOR2_uc010taz.1_Silent_p.G1611G|NCOR2_uc010tbb.1_Silent_p.G1620G|NCOR2_uc010tbc.1_Silent_p.G1610G|NCOR2_uc010tax.1_5'Flank	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1628					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ACAGGTCCACGCCACTCACGC	0.672												
PIWIL1	9271	broad.mit.edu	37	12	130855769	130855769	+	Silent	SNP	T	T	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:130855769T>G	uc001uik.2	+	20	2460	c.2370T>G	c.(2368-2370)TCT>TCG	p.S790S	PIWIL1_uc001uij.1_Silent_p.S790S	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	790	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GTAGTGTTTCTCCCACACATT	0.448												
GALNT9	50614	broad.mit.edu	37	12	132688125	132688125	+	Silent	SNP	G	G	A	rs149887053	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:132688125G>A	uc001ukc.3	-	7	1304	c.1188C>T	c.(1186-1188)AAC>AAT	p.N396N	GALNT9_uc009zyr.2_Silent_p.N170N|GALNT9_uc001ukb.2_Silent_p.N253N|GALNT9_uc001uka.2_Silent_p.N30N	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	396	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CGCGCAGGGCGTTGCGCTTGG	0.642												
GOLGA3	2802	broad.mit.edu	37	12	133351739	133351739	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:133351739G>A	uc001ukz.1	-	22	4690	c.4131C>T	c.(4129-4131)GGC>GGT	p.G1377G	GOLGA3_uc001ula.1_Silent_p.G1377G	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1377	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCTTGGCCGCGCCGCGGCGTA	0.592												
TUBA3C	7278	broad.mit.edu	37	13	19751314	19751314	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:19751314G>A	uc009zzj.2	-	4	858	c.809C>T	c.(808-810)GCC>GTC	p.A270V		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	270					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCGTAGGTGGCCAGGGGGAA	0.612												
MTUS2	23281	broad.mit.edu	37	13	29600969	29600969	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:29600969G>A	uc001usl.3	+	1	2222	c.2164G>A	c.(2164-2166)GGA>AGA	p.G722R		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	712	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						CTTCAGTTCCGGATTGATGGT	0.483												
KIAA0564	23078	broad.mit.edu	37	13	42144798	42144798	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:42144798C>T	uc001uyj.2	-	44	5485	c.5415G>A	c.(5413-5415)ACG>ACA	p.T1805T		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1805	VWFA.					extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TCCCTTCTAACGTGTGGTCCC	0.423												
EPSTI1	94240	broad.mit.edu	37	13	43544769	43544769	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:43544769G>A	uc001uyw.1	-	2	302	c.226C>T	c.(226-228)CGG>TGG	p.R76W	EPSTI1_uc001uyx.1_Missense_Mutation_p.R76W	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 isoform 1	76	Potential.									ovary(1)	1		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TCATTTCTCCGGTTTATATTT	0.323												
PCDH17	27253	broad.mit.edu	37	13	58207391	58207391	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:58207391C>T	uc001vhq.1	+	1	1603	c.711C>T	c.(709-711)AAC>AAT	p.N237N	PCDH17_uc010aec.1_Silent_p.N237N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	237	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TTGACTCCAACGACAACAGCC	0.602												
TBC1D4	9882	broad.mit.edu	37	13	76055542	76055542	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:76055542T>C	uc001vjl.1	-	1	709	c.362A>G	c.(361-363)CAC>CGC	p.H121R	TBC1D4_uc010aer.2_Missense_Mutation_p.H121R|TBC1D4_uc010aes.2_Missense_Mutation_p.H121R	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	121	PID 1.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTGCGCCTTGTGCTCGAAGAT	0.667												
SLITRK5	26050	broad.mit.edu	37	13	88328684	88328684	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:88328684G>A	uc001vln.2	+	2	1260	c.1041G>A	c.(1039-1041)CGG>CGA	p.R347R	SLITRK5_uc010tic.1_Silent_p.R106R	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	347	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCACCTCTCGGCAGCCCTCTA	0.592												
ABCC4	10257	broad.mit.edu	37	13	95726498	95726498	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:95726498C>T	uc001vmd.3	-	23	3006	c.2887G>A	c.(2887-2889)GTT>ATT	p.V963I	ABCC4_uc010afk.2_Missense_Mutation_p.V916I	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	963	Helical; (Potential).|ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CCAAAGGCAACGATGATGACA	0.403												
FAM155A	728215	broad.mit.edu	37	13	108518597	108518597	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:108518597G>A	uc001vql.2	-	1	864	c.348C>T	c.(346-348)GCC>GCT	p.A116A		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	116						integral to membrane	binding			skin(1)	1						GTGCCTGGGCGGCGGGCGAGG	0.562												
PROZ	8858	broad.mit.edu	37	13	113818958	113818958	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:113818958G>A	uc001vta.1	+	5	512	c.505G>A	c.(505-507)GAC>AAC	p.D169N	PROZ_uc010agr.1_Missense_Mutation_p.D191N	NM_003891	NP_003882	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma	169					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TGTGCCCCACGGTGAGTGCTC	0.587												
OR4K2	390431	broad.mit.edu	37	14	20344817	20344817	+	Missense_Mutation	SNP	C	C	T	rs145217057		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:20344817C>T	uc001vwh.1	+	1	391	c.391C>T	c.(391-393)CAC>TAC	p.H131Y		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAGCCCCTGCACTATGCTTC	0.453												
ACIN1	22985	broad.mit.edu	37	14	23530554	23530554	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:23530554C>A	uc001wit.3	-	17	3879	c.3551G>T	c.(3550-3552)CGC>CTC	p.R1184L	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R426L|ACIN1_uc001wiq.3_Missense_Mutation_p.R426L|ACIN1_uc001wir.3_Missense_Mutation_p.R457L|ACIN1_uc001wis.3_Missense_Mutation_p.R865L|ACIN1_uc010akg.2_Missense_Mutation_p.R1171L	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1184	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTCCTTGCGGCGGCGGTCACG	0.567												
CIDEB	27141	broad.mit.edu	37	14	24775286	24775286	+	Missense_Mutation	SNP	C	C	T	rs147369401		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:24775286C>T	uc001won.2	-	4	518	c.394G>A	c.(394-396)GCC>ACC	p.A132T	CIDEB_uc001woo.2_Missense_Mutation_p.A132T|CIDEB_uc001wop.2_Missense_Mutation_p.A132T|LTB4R2_uc001woq.1_5'Flank	NM_014430	NP_055245	Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	132				A -> G (in Ref. 1; AAF23324).	apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol					0				GBM - Glioblastoma multiforme(265;0.0181)		GTGAATCGGGCGATGTCCTTG	0.527												
CTAGE5	4253	broad.mit.edu	37	14	39815175	39815175	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:39815175A>T	uc001wvg.3	+	21	2235	c.1899A>T	c.(1897-1899)AGA>AGT	p.R633S	CTAGE5_uc010tqe.1_Missense_Mutation_p.R595S|CTAGE5_uc001wuz.3_Missense_Mutation_p.R621S|CTAGE5_uc001wuy.3_Missense_Mutation_p.R553S|CTAGE5_uc001wvb.3_Missense_Mutation_p.R561S|CTAGE5_uc001wvc.3_Missense_Mutation_p.R535S|CTAGE5_uc001wva.3_Missense_Mutation_p.R604S|CTAGE5_uc001wvh.3_Missense_Mutation_p.R590S|CTAGE5_uc001wvf.3_Missense_Mutation_p.R558S|CTAGE5_uc001wvi.3_Missense_Mutation_p.R638S|CTAGE5_uc010amz.2_Missense_Mutation_p.R249S|CTAGE5_uc001wvj.3_Missense_Mutation_p.R604S	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	633	Pro-rich.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		ATTCTGGTAGACTGTCTGGAC	0.348												
C14orf106	55320	broad.mit.edu	37	14	45711523	45711523	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:45711523T>C	uc001wwf.2	-	4	1316	c.857A>G	c.(856-858)GAG>GGG	p.E286G	C14orf106_uc010anh.2_RNA	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	286					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						ACTGAGAGTCTCAGCATTAGT	0.368												
SOS2	6655	broad.mit.edu	37	14	50666416	50666416	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:50666416G>A	uc001wxs.3	-	4	601	c.503C>T	c.(502-504)GCG>GTG	p.A168V	SOS2_uc010tql.1_Missense_Mutation_p.A168V	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	168					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TACCTTATCCGCACACATTGA	0.299												
PTGDR	5729	broad.mit.edu	37	14	52735102	52735102	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:52735102G>A	uc001wzq.2	+	1	672	c.570G>A	c.(568-570)GAG>GAA	p.E190E		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	190	Extracellular (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	p.E190K(1)		ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGGTCCACGAGGAGGGCTCGC	0.637												
PTGER2	5732	broad.mit.edu	37	14	52781549	52781549	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:52781549C>T	uc001wzr.2	+	1	534	c.283C>T	c.(283-285)CGG>TGG	p.R95W		NM_000956	NP_000947	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	95	Extracellular (Potential).					integral to plasma membrane	prostaglandin E receptor activity			lung(1)|breast(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TTCGTACGCGCGGAACCAGAC	0.632												
DDHD1	80821	broad.mit.edu	37	14	53539354	53539354	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:53539354C>A	uc001xai.2	-	6	1694	c.1464G>T	c.(1462-1464)ATG>ATT	p.M488I	DDHD1_uc001xaj.2_Missense_Mutation_p.M495I|DDHD1_uc001xah.2_Missense_Mutation_p.M488I|DDHD1_uc001xag.2_Missense_Mutation_p.M70I	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	488					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					ACATTATGTCCATTGCACTGC	0.343												
JKAMP	51528	broad.mit.edu	37	14	59954419	59954419	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:59954419G>A	uc001xei.3	+	3	668	c.166G>A	c.(166-168)GCA>ACA	p.A56T	JKAMP_uc001xef.3_Missense_Mutation_p.A42T|JKAMP_uc001xeh.3_Missense_Mutation_p.A36T|JKAMP_uc001xeg.3_Missense_Mutation_p.A50T|JKAMP_uc010try.1_5'UTR|JKAMP_uc001xej.3_5'UTR	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	JNK1-associated membrane protein isoform 2	57	Lumenal (Potential).				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)	1						GAGAACGAATGCACAGAAATA	0.358												
SYNE2	23224	broad.mit.edu	37	14	64632037	64632037	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:64632037G>A	uc001xgm.2	+	90	16744	c.16514G>A	c.(16513-16515)CGG>CAG	p.R5505Q	SYNE2_uc001xgl.2_Missense_Mutation_p.R5505Q|SYNE2_uc010apy.2_Missense_Mutation_p.R1890Q|SYNE2_uc001xgn.2_Missense_Mutation_p.R467Q|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5505	Cytoplasmic (Potential).|Potential.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTGGAGTCCGGCTGGAATCT	0.338												
GALNTL1	57452	broad.mit.edu	37	14	69798192	69798192	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:69798192C>T	uc010aqu.1	+	7	795	c.702C>T	c.(700-702)CGC>CGT	p.R234R	GALNTL1_uc001xla.1_Silent_p.R234R|GALNTL1_uc001xlb.1_Silent_p.R234R	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	234	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		ACCACACCCGCGTGGTGAGTC	0.562												
PCNX	22990	broad.mit.edu	37	14	71514590	71514590	+	Silent	SNP	A	A	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:71514590A>T	uc001xmo.2	+	22	4673	c.4227A>T	c.(4225-4227)ACA>ACT	p.T1409T	PCNX_uc010are.1_Silent_p.T1298T|PCNX_uc010arf.1_Silent_p.T269T	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1409						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GCAGCCCTACATATCAGTATG	0.378												
C14orf169	79697	broad.mit.edu	37	14	73959112	73959112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:73959112C>T	uc001xok.1	+	3	1470	c.1391C>T	c.(1390-1392)GCC>GTC	p.A464V	HEATR4_uc010tua.1_Intron	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN	chromosome 14 open reading frame 169	464					negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)		TACATGGGGGCCCAGCATTCA	0.547												
LTBP2	4053	broad.mit.edu	37	14	74969585	74969585	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:74969585G>A	uc001xqa.2	-	34	5328	c.4941C>T	c.(4939-4941)GCC>GCT	p.A1647A		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1647					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTGGACCCCGGCCTCCCGCT	0.627												
LTBP2	4053	broad.mit.edu	37	14	74995322	74995322	+	Silent	SNP	G	G	A	rs150924217		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:74995322G>A	uc001xqa.2	-	12	2619	c.2232C>T	c.(2230-2232)GCC>GCT	p.A744A		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	744					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCTCCTCCTCGGCTTTCCTCA	0.672												
KIAA0317	9870	broad.mit.edu	37	14	75130503	75130503	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:75130503T>C	uc001xqb.2	-	20	2897	c.2392A>G	c.(2392-2394)ACA>GCA	p.T798A		NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	798	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)		GAGTCATATGTAGGGAGGCAC	0.532												
ISM2	145501	broad.mit.edu	37	14	77948722	77948722	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:77948722A>G	uc001xtz.2	-	4	990	c.916T>C	c.(916-918)TGG>CGG	p.W306R	ISM2_uc001xua.2_Intron|ISM2_uc001xty.2_Missense_Mutation_p.W218R|ISM2_uc010tvl.1_Missense_Mutation_p.W225R	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	306						extracellular region				skin(1)	1						CCCTGGTCCCAGTTGTCTGTA	0.393												
FLRT2	23768	broad.mit.edu	37	14	86089442	86089442	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:86089442C>T	uc001xvr.2	+	2	2351	c.1584C>T	c.(1582-1584)AGC>AGT	p.S528S	FLRT2_uc010atd.2_Silent_p.S528S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	528	Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAGCGTCCAGCCATGAGCAGA	0.582												
CCDC88C	440193	broad.mit.edu	37	14	91760652	91760652	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:91760652C>T	uc010aty.2	-	23	4076	c.3977G>A	c.(3976-3978)CGT>CAT	p.R1326H		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1326	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				CCCCTTGAGACGGGAGAGCAG	0.363												
SLC24A4	123041	broad.mit.edu	37	14	92790234	92790234	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:92790234G>A	uc001yak.2	+	1	33	c.9G>A	c.(7-9)CCG>CCA	p.P3P	SLC24A4_uc001yai.2_Intron|SLC24A4_uc010twm.1_Silent_p.P20P|SLC24A4_uc001yaj.2_Silent_p.P3P	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	20						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		AGATGCTGCCGCAGCAAGTCG	0.697												
SERPINA6	866	broad.mit.edu	37	14	94770841	94770841	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:94770841G>A	uc001ycv.2	-	5	1236	c.1132C>T	c.(1132-1134)CGT>TGT	p.R378C	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	378					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGGTTGAAACGCAAGATGATA	0.542												
SERPINA6	866	broad.mit.edu	37	14	94772522	94772522	+	Silent	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:94772522G>T	uc001ycv.2	-	4	1022	c.918C>A	c.(916-918)ATC>ATA	p.I306I	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	306					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	AGACTCCAGAGATGGTGACCT	0.567												
DICER1	23405	broad.mit.edu	37	14	95569709	95569709	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:95569709G>A	uc001ydw.2	-	22	4206	c.4024C>T	c.(4024-4026)CGC>TGC	p.R1342C	DICER1_uc010avh.1_Missense_Mutation_p.R240C|DICER1_uc001ydv.2_Missense_Mutation_p.R1332C|DICER1_uc001ydx.2_Missense_Mutation_p.R1342C|DICER1_uc001ydy.1_Missense_Mutation_p.R194C	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1342	RNase III 1.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TATGAAAGGCGGCCCTCATGC	0.403			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_			
KIF26A	26153	broad.mit.edu	37	14	104642480	104642480	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:104642480G>A	uc001yos.3	+	12	3355	c.3355G>A	c.(3355-3357)GTC>ATC	p.V1119I		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1119					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGAGGTCAGCGTCTGCACTGC	0.726												
AHNAK2	113146	broad.mit.edu	37	14	105407181	105407181	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:105407181C>T	uc010axc.1	-	7	14727	c.14607G>A	c.(14605-14607)AAG>AAA	p.K4869K	AHNAK2_uc001ypx.2_Silent_p.K4769K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4869						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAAACACAAACTTTGGTTTAT	0.478												
AHNAK2	113146	broad.mit.edu	37	14	105413931	105413931	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:105413931C>A	uc010axc.1	-	7	7977	c.7857G>T	c.(7855-7857)CAG>CAT	p.Q2619H	AHNAK2_uc001ypx.2_Missense_Mutation_p.Q2519H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2619						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCTCGGGGCCTGGACGTCCA	0.602												
MTA1	9112	broad.mit.edu	37	14	105936409	105936409	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:105936409C>T	uc001yqx.2	+	21	2192	c.2005C>T	c.(2005-2007)CGC>TGC	p.R669C	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.R434C|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	669					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CAGGAAGATCCGCAAGCTGCT	0.716												
MTA1	9112	broad.mit.edu	37	14	105936528	105936528	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:105936528C>T	uc001yqx.2	+	21	2311	c.2124C>T	c.(2122-2124)GAC>GAT	p.D708D	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Silent_p.D473D|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	708					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CCGTCAACGACGAGCCCATCG	0.488												
C14orf80	283643	broad.mit.edu	37	14	105958492	105958492	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:105958492C>T	uc001yrm.2	+	3	402	c.275C>T	c.(274-276)CCG>CTG	p.P92L	C14orf80_uc001yrj.2_Missense_Mutation_p.P53L|C14orf80_uc001yrk.2_Missense_Mutation_p.P51L|C14orf80_uc001yrn.2_Missense_Mutation_p.P92L|C14orf80_uc001yro.2_Missense_Mutation_p.P92L|C14orf80_uc010tys.1_5'UTR	NM_001134875	NP_001128347	Q86SX3	CN080_HUMAN	hypothetical protein LOC283643 isoform 1	92											0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		CAGGGCTACCCGAGGCTGGCA	0.642												
MTMR15	22909	broad.mit.edu	37	15	31202890	31202890	+	Silent	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:31202890C>A	uc001zff.2	+	4	1740	c.1449C>A	c.(1447-1449)ACC>ACA	p.T483T	MTMR15_uc001zfc.3_Silent_p.T483T|MTMR15_uc010azw.2_Silent_p.T483T|MTMR15_uc001zfd.3_Silent_p.T483T|MTMR15_uc001zfe.2_Silent_p.T88T	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	483					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)		TAGCCAAGACCTTCCACTTGG	0.433								Direct_reversal_of_damage|Editing_and_processing_nucleases				
FMN1	342184	broad.mit.edu	37	15	33194232	33194232	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:33194232A>G	uc001zhf.3	-	9	2718	c.2718T>C	c.(2716-2718)CAT>CAC	p.H906H		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	1129	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGGCTAACTCATGTAAAAATC	0.383												
RYR3	6263	broad.mit.edu	37	15	34030749	34030749	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:34030749G>A	uc001zhi.2	+	50	7684	c.7614G>A	c.(7612-7614)ACG>ACA	p.T2538T	RYR3_uc010bar.2_Silent_p.T2538T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2538	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCACCTAACGGAGAAGCTTT	0.478											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IVD	3712	broad.mit.edu	37	15	40708280	40708280	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:40708280A>G	uc001zls.3	+	10	1307	c.973A>G	c.(973-975)ATG>GTG	p.M325V	IVD_uc001zlq.2_Missense_Mutation_p.M295V|IVD_uc001zlr.2_Missense_Mutation_p.M28V	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	322					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		TGCCCAGTTGATGCAGGGGAA	0.532												
CASC5	57082	broad.mit.edu	37	15	40912959	40912959	+	Nonsense_Mutation	SNP	T	T	A	rs7169142		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:40912959T>A	uc010bbs.1	+	11	736	c.575T>A	c.(574-576)TTA>TAA	p.L192*	CASC5_uc010ucq.1_Nonsense_Mutation_p.L16*|CASC5_uc001zme.2_Nonsense_Mutation_p.L166*|CASC5_uc010bbt.1_Nonsense_Mutation_p.L166*	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	192	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAGGCCTTTTAGATAATCCC	0.373												
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42138489	42138489	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:42138489G>T	uc010bco.2	+	17	1790	c.1689G>T	c.(1687-1689)TGG>TGT	p.W563C	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.W794C|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.W794C|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.W264C|JMJD7-PLA2G4B_uc001zor.1_3'UTR	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	563	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						TTCTGACGTGGCGTCCACTGG	0.522												
EHD4	30844	broad.mit.edu	37	15	42211660	42211660	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:42211660G>A	uc001zot.2	-	4	735	c.672C>T	c.(670-672)GCC>GCT	p.A224A		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	224					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			ovary(2)	2		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCACTTGGTCGGCCTTGTTCA	0.582												
ZFP106	64397	broad.mit.edu	37	15	42743852	42743852	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:42743852A>G	uc001zpw.2	-	2	884	c.549T>C	c.(547-549)GGT>GGC	p.G183G	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_5'UTR|ZFP106_uc001zpy.1_Silent_p.G206G	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	183						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AAAGCCAACCACCTCCAGAAT	0.488												
MAP1A	4130	broad.mit.edu	37	15	43820988	43820988	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:43820988T>C	uc001zrt.2	+	4	7784	c.7317T>C	c.(7315-7317)ACT>ACC	p.T2439T		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2439						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GATGTGCCACTGAGCCTCGGC	0.652												
TMOD3	29766	broad.mit.edu	37	15	52161500	52161500	+	Silent	SNP	A	A	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:52161500A>T	uc002abm.2	+	3	432	c.213A>T	c.(211-213)TCA>TCT	p.S71S		NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	71						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1				all cancers(107;0.00194)		ATCTCCTTTCATATCTGGAGA	0.453												
ONECUT1	3175	broad.mit.edu	37	15	53049924	53049924	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:53049924C>T	uc002aci.1	-	2	1354	c.1226G>A	c.(1225-1227)CGT>CAT	p.R409H		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	409	Homeobox.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		TTTGGATGGACGCTTATTTTC	0.483												
ONECUT1	3175	broad.mit.edu	37	15	53049957	53049957	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:53049957C>T	uc002aci.1	-	2	1321	c.1193G>A	c.(1192-1194)CGA>CAA	p.R398Q		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	398	Homeobox.				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		ATGTAGAGTTCGACGCTGGAC	0.463												
PRTG	283659	broad.mit.edu	37	15	55912281	55912281	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:55912281G>A	uc002adg.2	-	20	3430	c.3382C>T	c.(3382-3384)CGG>TGG	p.R1128W		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	1128					multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGAGAAAACCGCCCAGAATCC	0.493												
FOXB1	27023	broad.mit.edu	37	15	60297516	60297516	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:60297516G>A	uc002agj.1	+	2	833	c.354G>A	c.(352-354)GCG>GCA	p.A118A	FOXB1_uc010bgh.1_Intron	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	118					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|central_nervous_system(1)	2						ACCACCTGGCGCCCAGCAAGC	0.697												
ANXA2	302	broad.mit.edu	37	15	60641281	60641281	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:60641281T>A	uc002agn.2	-	13	1113	c.953A>T	c.(952-954)TAT>TTT	p.Y318F	ANXA2_uc002agk.2_Missense_Mutation_p.Y318F|ANXA2_uc002agl.2_Missense_Mutation_p.Y318F|ANXA2_uc002agm.2_Missense_Mutation_p.Y336F|ANXA2_uc010uhd.1_RNA	NM_001136015	NP_001129487	P07355	ANXA2_HUMAN	annexin A2 isoform 2	318	Annexin 4.				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	TACCTGGATATAATAGTACAG	0.532												
DPP8	54878	broad.mit.edu	37	15	65793059	65793059	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:65793059C>T	uc002aov.2	-	4	2057	c.479G>A	c.(478-480)CGC>CAC	p.R160H	DPP8_uc002aow.2_Missense_Mutation_p.R160H|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.R144H|DPP8_uc002aoy.2_Missense_Mutation_p.R160H|DPP8_uc002aoz.2_Missense_Mutation_p.R144H|DPP8_uc010bhj.2_Missense_Mutation_p.R160H|DPP8_uc002apa.2_Missense_Mutation_p.R57H	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	160					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						TGTTCCAATGCGTTTTCTTTC	0.393												
NOX5	79400	broad.mit.edu	37	15	69347808	69347808	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:69347808C>T	uc002ars.1	+	15	2154	c.2134C>T	c.(2134-2136)CGC>TGC	p.R712C	NOX5_uc002arp.1_Missense_Mutation_p.R694C|NOX5_uc002arq.1_Missense_Mutation_p.R666C|NOX5_uc010bid.1_Missense_Mutation_p.R677C|NOX5_uc002arr.1_Missense_Mutation_p.R684C|NOX5_uc010bie.1_Missense_Mutation_p.R512C|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	712	Extracellular (Potential).				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						GCTGCAGACGCGCACCCAGCC	0.607												
LOXL1	4016	broad.mit.edu	37	15	74219771	74219771	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:74219771C>G	uc002awc.1	+	1	983	c.647C>G	c.(646-648)GCG>GGG	p.A216G	uc002awa.1_Intron|uc002awb.1_Intron	NM_005576	NP_005567	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1 preproprotein	216					protein deamination	extracellular space	copper ion binding				0						ggcgcgggggcggcggccgtg	0.473												
SEMA7A	8482	broad.mit.edu	37	15	74702973	74702973	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:74702973C>A	uc002axv.2	-	14	2033	c.1993G>T	c.(1993-1995)GTC>TTC	p.V665F	SEMA7A_uc010ulk.1_Missense_Mutation_p.V500F|SEMA7A_uc010ull.1_Missense_Mutation_p.V651F	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	665					axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2						CCCTAGTGGACCAGCAAGCCA	0.677												
KIAA1199	57214	broad.mit.edu	37	15	81229194	81229194	+	Silent	SNP	C	C	T	rs79713495	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:81229194C>T	uc002bfw.1	+	23	3449	c.3189C>T	c.(3187-3189)GCC>GCT	p.A1063A	KIAA1199_uc010unn.1_Silent_p.A1063A	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1063										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						CGGCCCCCGCCGAACTCGCCA	0.582												
ADAMTSL3	57188	broad.mit.edu	37	15	84651707	84651707	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:84651707C>T	uc002bjz.3	+	21	3551	c.3327C>T	c.(3325-3327)ACC>ACT	p.T1109T	ADAMTSL3_uc010bmt.1_Silent_p.T1109T|ADAMTSL3_uc010bmu.1_Silent_p.T1109T	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1109						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCATGGAAACCGGAGAGGTCA	0.498												
POLG	5428	broad.mit.edu	37	15	89864210	89864210	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:89864210C>T	uc002bns.3	-	18	3050	c.2768G>A	c.(2767-2769)GGC>GAC	p.G923D	POLG_uc002bnr.3_Missense_Mutation_p.G923D	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	923			G -> D (in PEOA1).		base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCTCTTCCTGCCCTGCAGTGT	0.527								DNA_polymerases_(catalytic_subunits)				
FES	2242	broad.mit.edu	37	15	91432867	91432867	+	Splice_Site	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:91432867G>A	uc002bpv.2	+	7	1022	c.926_splice	c.e7+1	p.T309_splice	FES_uc010uqj.1_Splice_Site_p.T251_splice|FES_uc010uqk.1_Splice_Site_p.T291_splice|FES_uc002bpw.2_Splice_Site|FES_uc010bny.2_Splice_Site_p.T251_splice|FES_uc002bpx.2_Splice_Site_p.T309_splice|FES_uc002bpy.2_Splice_Site_p.T251_splice	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1						axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCAGCACACGTGGGTGGTGG	0.622												
ARHGDIG	398	broad.mit.edu	37	16	332056	332056	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:332056G>A	uc002cgm.1	+	3	360	c.285G>A	c.(283-285)AGG>AGA	p.R95R	PDIA2_uc002cgn.1_5'UTR|PDIA2_uc010bqt.1_5'Flank|PDIA2_uc002cgo.1_5'Flank	NM_001176	NP_001167	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	95					negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			central_nervous_system(1)	1		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				AGGTGACCAGGCTGACACTCC	0.642												
WFIKKN1	117166	broad.mit.edu	37	16	682785	682785	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:682785C>T	uc002cht.1	+	2	617	c.375C>T	c.(373-375)AGC>AGT	p.S125S	WFIKKN1_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	125	Kazal-like.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				AGGAGCCCAGCTTCACCTGCG	0.682												
CACNA1H	8912	broad.mit.edu	37	16	1257285	1257285	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:1257285A>G	uc002cks.2	+	14	3166	c.2918A>G	c.(2917-2919)CAG>CGG	p.Q973R	CACNA1H_uc002ckt.2_Missense_Mutation_p.Q973R|CACNA1H_uc002cku.2_5'Flank|CACNA1H_uc010brj.2_5'Flank|CACNA1H_uc002ckv.2_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	973	II.|Extracellular (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ATCCTGACCCAGGAGGACTGG	0.642												
IFT140	9742	broad.mit.edu	37	16	1616233	1616233	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:1616233G>A	uc002cmb.2	-	16	2192	c.1830C>T	c.(1828-1830)ACC>ACT	p.T610T	IFT140_uc002clz.2_Silent_p.T261T	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	610										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				AGTCAAAGACGGTCACTGTGT	0.448												
IGFALS	3483	broad.mit.edu	37	16	1841073	1841073	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:1841073A>G	uc002cmy.2	-	2	1427	c.1346T>C	c.(1345-1347)CTG>CCG	p.L449P	IGFALS_uc010uvn.1_Missense_Mutation_p.L487P|IGFALS_uc010uvo.1_Missense_Mutation_p.L83P	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	449	LRR 16.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						GCGGTGGGGCAGGTGCGTGAG	0.692												
NTHL1	4913	broad.mit.edu	37	16	2090230	2090230	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:2090230G>A	uc002col.1	-	5	738	c.719C>T	c.(718-720)ACG>ATG	p.T240M	NTHL1_uc002com.1_Missense_Mutation_p.T241M	NM_002528	NP_002519	P78549	NTHL1_HUMAN	nth endonuclease III-like 1	240					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						GTGCACATGCGTGTCCACTGC	0.667								BER_DNA_glycosylases				
TSC2	7249	broad.mit.edu	37	16	2124276	2124276	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:2124276T>C	uc002con.2	+	22	2537	c.2431T>C	c.(2431-2433)TGC>CGC	p.C811R	TSC2_uc010bsd.2_Missense_Mutation_p.C811R|TSC2_uc002coo.2_Missense_Mutation_p.C811R|TSC2_uc010uvv.1_Missense_Mutation_p.C774R|TSC2_uc010uvw.1_Missense_Mutation_p.C762R|TSC2_uc002cop.2_Missense_Mutation_p.C611R	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	811					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				CTTGTCCATCTGCAGCGTGGA	0.622			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
PKD1	5310	broad.mit.edu	37	16	2159842	2159842	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:2159842G>T	uc002cos.1	-	15	5535	c.5326C>A	c.(5326-5328)CTG>ATG	p.L1776M	PKD1_uc002cot.1_Missense_Mutation_p.L1776M	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1776	PKD 13.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						ACCAAGTGCAGGCCGGGTGTG	0.632												
PKD1	5310	broad.mit.edu	37	16	2162823	2162823	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:2162823C>T	uc002cos.1	-	13	3336	c.3127G>A	c.(3127-3129)GTG>ATG	p.V1043M	PKD1_uc002cot.1_Missense_Mutation_p.V1043M	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1043	PKD 5.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						TCCACCAGCACGCCCGCCGTC	0.672												
E4F1	1877	broad.mit.edu	37	16	2285285	2285285	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:2285285C>T	uc002cpm.2	+	14	2115	c.2067C>T	c.(2065-2067)ATC>ATT	p.I689I	E4F1_uc010bsi.2_3'UTR|E4F1_uc010bsj.2_Silent_p.I512I|DNASE1L2_uc002cpn.2_5'Flank|DNASE1L2_uc002cpo.2_5'Flank|DNASE1L2_uc002cpp.2_5'Flank|DNASE1L2_uc002cpq.2_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	p120E4F	689					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						ACCAGATCATCGTGCAGAACG	0.662												
ZNF205	7755	broad.mit.edu	37	16	3170202	3170202	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:3170202G>A	uc002cub.2	+	7	1676	c.1541G>A	c.(1540-1542)AGC>AAC	p.S514N	ZNF205_uc002cua.2_Missense_Mutation_p.S514N	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	514	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						AAGAGCTTCAGCCGGCGCTCC	0.617												
TRAP1	10131	broad.mit.edu	37	16	3740886	3740886	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:3740886G>A	uc002cvt.3	-	2	278	c.189C>T	c.(187-189)ACC>ACT	p.T63T	TRAP1_uc010uxf.1_Intron	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	63					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				TGTCCTCGGCGGTCTGCGTGC	0.597											OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CREBBP	1387	broad.mit.edu	37	16	3823777	3823777	+	Missense_Mutation	SNP	G	G	A	rs150767375		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:3823777G>A	uc002cvv.2	-	13	2642	c.2438C>T	c.(2437-2439)CCG>CTG	p.P813L	CREBBP_uc002cvw.2_Missense_Mutation_p.P775L	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	813					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGGGCTGGCGGCTGCCCCAT	0.552			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
MKL2	57496	broad.mit.edu	37	16	14341277	14341277	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:14341277G>A	uc010uza.1	+	12	2315	c.2160G>A	c.(2158-2160)ACG>ACA	p.T720T	MKL2_uc002dcg.2_Intron|MKL2_uc002dcj.2_5'UTR	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	709	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						TACTGACCACGCAGACTGCTC	0.587												
NOMO1	23420	broad.mit.edu	37	16	14932348	14932348	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:14932348G>T	uc002dcv.2	+	2	316	c.250G>T	c.(250-252)GAT>TAT	p.D84Y		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	84	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						CCCTTTGTATGATAAGGTAAG	0.443												
C16orf88	400506	broad.mit.edu	37	16	19725713	19725713	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:19725713T>C	uc002dgq.2	-	2	660	c.645A>G	c.(643-645)AAA>AAG	p.K215K	IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	hypothetical protein LOC400506	215	Lys-rich.					nucleolus					0						GGATTTTTTTTTTCTTCTTCA	0.537												
ACSM2B	348158	broad.mit.edu	37	16	20548586	20548586	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:20548586C>T	uc002dhj.3	-	15	1938	c.1728G>A	c.(1726-1728)GCG>GCA	p.A576A	ACSM2B_uc002dhk.3_Silent_p.A576A	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	576					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						CGCCTCACTGCGCACGGGCTT	0.458												
CRYM	1428	broad.mit.edu	37	16	21278978	21278978	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:21278978C>T	uc002dik.2	-	5	655	c.570G>A	c.(568-570)TCG>TCA	p.S190S	CRYM_uc010bwq.1_RNA|CRYM_uc002dil.2_Silent_p.S148S|CRYM_uc002dim.2_Silent_p.S190S	NM_001888	NP_001879	Q14894	CRYM_HUMAN	crystallin, mu isoform 1	190					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity				0				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	CCTCCTGGACCGAAGAACAGA	0.512												
GGA2	23062	broad.mit.edu	37	16	23505687	23505687	+	Silent	SNP	C	C	T	rs150275766	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:23505687C>T	uc002dlq.2	-	3	265	c.189G>A	c.(187-189)GCG>GCA	p.A63A	GGA2_uc010bxo.1_RNA	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	63	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)		GTAGCCAGGGCGCATGTGTGG	0.502												
EARS2	124454	broad.mit.edu	37	16	23544081	23544081	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:23544081G>T	uc002dlt.3	-	5	996	c.964C>A	c.(964-966)CAA>AAA	p.Q322K	EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA|EARS2_uc002dlu.2_Missense_Mutation_p.Q322K	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2 precursor	322					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding				0				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CTGCCCATTTGGTTCTCTGCA	0.453												
ARHGAP17	55114	broad.mit.edu	37	16	24950837	24950837	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:24950837C>T	uc002dnb.2	-	17	1665	c.1572G>A	c.(1570-1572)CAG>CAA	p.Q524Q	ARHGAP17_uc002dmy.2_5'Flank|ARHGAP17_uc002dmz.2_Silent_p.Q48Q|ARHGAP17_uc002dna.2_Silent_p.Q251Q|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	524	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		GAAGTGGCGGCTGGAAAGCGG	0.612												
GTF3C1	2975	broad.mit.edu	37	16	27497443	27497443	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:27497443G>A	uc002dov.1	-	24	3773	c.3733C>T	c.(3733-3735)CGC>TGC	p.R1245C	GTF3C1_uc002dou.2_Missense_Mutation_p.R1245C	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1245						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TCATGGTAGCGCAGCCTTTTG	0.562												
ZNF48	197407	broad.mit.edu	37	16	30410362	30410362	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:30410362G>A	uc002dya.1	+	2	1850	c.1791G>A	c.(1789-1791)ACG>ACA	p.T597T	ZNF48_uc002dxz.1_Silent_p.T474T	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGGTCCTGACGCCCTTTGGGA	0.622												
C16orf93	90835	broad.mit.edu	37	16	30768881	30768881	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:30768881G>A	uc002dzm.2	-	9	1243	c.912C>T	c.(910-912)AGC>AGT	p.S304S	C16orf93_uc002dzn.2_Silent_p.S369S|C16orf93_uc002dzo.2_Silent_p.S267S	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	hypothetical protein LOC90835	304	Potential.										0						GCCTTTCCTCGCTGGCCTTGA	0.592												
ZNF629	23361	broad.mit.edu	37	16	30794106	30794106	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:30794106C>T	uc002dzs.1	-	3	1751	c.1543G>A	c.(1543-1545)GTG>ATG	p.V515M		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	515	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			TCGGAGCACACGAACAGGTTC	0.642												
SETD1A	9739	broad.mit.edu	37	16	30982826	30982826	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:30982826G>A	uc002ead.1	+	13	3830	c.3144G>A	c.(3142-3144)TCG>TCA	p.S1048S		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1048	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						cctcctcctcgtcctcatcct	0.418												
ZNF423	23090	broad.mit.edu	37	16	49764857	49764857	+	Silent	SNP	G	G	A	rs139517505		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:49764857G>A	uc002efs.2	-	4	400	c.102C>T	c.(100-102)TGC>TGT	p.C34C		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	34					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TTTTCTGATCGCACTCTGGCT	0.493												
CYLD	1540	broad.mit.edu	37	16	50813710	50813710	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:50813710A>G	uc002egp.1	+	9	1688	c.1273A>G	c.(1273-1275)AAG>GAG	p.K425E	CYLD_uc002ego.2_Missense_Mutation_p.K422E|CYLD_uc010cbs.1_Missense_Mutation_p.K422E|CYLD_uc002egq.1_Missense_Mutation_p.K422E|CYLD_uc002egr.1_Missense_Mutation_p.K422E|CYLD_uc002egs.1_Missense_Mutation_p.K422E	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	ubiquitin carboxyl-terminal hydrolase CYLD	425	Interaction with TRAF2.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)				CAGTCTCACCAAGATGCCCAA	0.498			Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial			
CHD9	80205	broad.mit.edu	37	16	53276823	53276823	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:53276823T>A	uc002ehb.2	+	12	3113	c.2949T>A	c.(2947-2949)TGT>TGA	p.C983*	CHD9_uc002egy.2_Nonsense_Mutation_p.C983*|CHD9_uc002eha.1_Nonsense_Mutation_p.C983*|CHD9_uc002ehc.2_Nonsense_Mutation_p.C983*|CHD9_uc002ehf.2_Nonsense_Mutation_p.C97*|CHD9_uc002ehd.2_Nonsense_Mutation_p.C509*|CHD9_uc002ehe.1_Nonsense_Mutation_p.C97*	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	983	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TTGGAGGCTGTGGAGAGCTTA	0.368												
NUDT21	11051	broad.mit.edu	37	16	56485037	56485037	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:56485037C>T	uc002eja.2	-	1	225	c.78G>A	c.(76-78)CAG>CAA	p.Q26Q	OGFOD1_uc002ejb.2_5'Flank|OGFOD1_uc002ejc.2_5'Flank	NM_007006	NP_008937	O43809	CPSF5_HUMAN	cleavage and polyadenylation specific factor 5	26	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity				0						GCTTCGTCTGCTGGATGTACT	0.637												
NUP93	9688	broad.mit.edu	37	16	56864565	56864565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:56864565G>A	uc002eka.2	+	10	1174	c.1053G>A	c.(1051-1053)TGG>TGA	p.W351*	NUP93_uc002ekb.2_Nonsense_Mutation_p.W228*|NUP93_uc010vhi.1_Nonsense_Mutation_p.W228*	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	351					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						TTAAAACCTGGTTCCAGGAGT	0.532												
SLC12A3	6559	broad.mit.edu	37	16	56906652	56906652	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:56906652C>T	uc010ccm.2	+	8	1078	c.1049C>T	c.(1048-1050)TCG>TTG	p.S350L	SLC12A3_uc002ekd.3_Missense_Mutation_p.S350L|SLC12A3_uc010ccn.2_Missense_Mutation_p.S349L	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	350	Helical; (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCTTCCCCTCGGCCACAGGC	0.572												
CCL22	6367	broad.mit.edu	37	16	57394460	57394460	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:57394460G>T	uc002elh.2	+	2	196	c.185G>T	c.(184-186)AGG>ATG	p.R62M		NM_002990	NP_002981	O00626	CCL22_HUMAN	small inducible cytokine A22 precursor	62					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to virus|signal transduction	extracellular space	chemokine activity				0						TCCTGCCCGAGGCCTGGCGTG	0.647												
KATNB1	10300	broad.mit.edu	37	16	57789377	57789377	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:57789377C>T	uc002eml.1	+	16	1911	c.1537C>T	c.(1537-1539)CGG>TGG	p.R513W		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	513	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				GGACACTGTGCGGGCTGTGTG	0.657												
TEPP	374739	broad.mit.edu	37	16	58019155	58019155	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:58019155T>C	uc002emw.3	+	5	708	c.671T>C	c.(670-672)GTG>GCG	p.V224A	TEPP_uc002emv.3_Missense_Mutation_p.V224A	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN	testis/prostate/placenta-expressed protein	224						extracellular region				kidney(1)|central_nervous_system(1)|skin(1)	3						AAGCCCGACGTGACCCAGACC	0.716												
FBXL8	55336	broad.mit.edu	37	16	67197644	67197644	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:67197644C>T	uc002erj.1	+	3	1166	c.1046C>T	c.(1045-1047)GCG>GTG	p.A349V	FBXL8_uc002erk.1_Missense_Mutation_p.A349V|HSF4_uc002erl.1_5'UTR|HSF4_uc002erm.1_5'UTR|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank	NM_018378	NP_060848	Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	349							protein binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		GCCTTCCGCGCGCACTGCCCG	0.706												
ACD	65057	broad.mit.edu	37	16	67691945	67691945	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:67691945G>A	uc002etq.3	-	10	1745	c.1408C>T	c.(1408-1410)CCG>TCG	p.P470S	ACD_uc002etp.3_Missense_Mutation_p.P467S|ACD_uc002etr.3_Missense_Mutation_p.P467S|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	470					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGAAAAGGCGGCCGATTCTTG	0.612												
C16orf48	84080	broad.mit.edu	37	16	67699037	67699037	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:67699037C>T	uc002etw.1	-	3	598	c.315G>A	c.(313-315)CTG>CTA	p.L105L	C16orf48_uc002etv.1_5'Flank|C16orf48_uc010cem.1_Silent_p.L105L|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	hypothetical protein LOC84080	105						microtubule cytoskeleton	protein binding				0		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGATCCGCCTCAGGTTCTCCT	0.597												
C16orf86	388284	broad.mit.edu	37	16	67701280	67701280	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:67701280G>A	uc002ety.2	+	2	341	c.184G>A	c.(184-186)GCA>ACA	p.A62T	C16orf48_uc002etv.1_5'Flank|C16orf48_uc002etw.1_5'Flank|C16orf48_uc010cem.1_5'Flank|C16orf86_uc002etx.1_5'UTR|C16orf86_uc002etz.2_RNA	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN	hypothetical protein LOC388284	62											0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCCAGCAGGCGCAGCTTCGGA	0.682												
ESRP2	80004	broad.mit.edu	37	16	68265946	68265946	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:68265946C>T	uc010cfa.1	-	10	1276	c.1088G>A	c.(1087-1089)CGG>CAG	p.R363Q	ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Missense_Mutation_p.R353Q	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	363	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						GGGCAGTCCCCGCAGCCGCAG	0.612												
SNTB2	6645	broad.mit.edu	37	16	69334794	69334794	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:69334794G>A	uc002ewu.2	+	7	1610	c.1590G>A	c.(1588-1590)TCG>TCA	p.S530S	SNTB2_uc010cfk.2_5'Flank	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	basic beta 2 syntrophin	530	Calmodulin-binding (By similarity).|SU.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CGTTTTTATCGGCCAAAGTCA	0.423												
PHLPP2	23035	broad.mit.edu	37	16	71689196	71689196	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:71689196C>T	uc002fax.2	-	16	2538	c.2532G>A	c.(2530-2532)CAG>CAA	p.Q844Q	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.Q777Q	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	844	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						TAGTTGACTGCTGTACCTCTT	0.478												
AP1G1	164	broad.mit.edu	37	16	71779115	71779115	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:71779115G>A	uc010cgg.2	-	19	2245	c.1931C>T	c.(1930-1932)GCG>GTG	p.A644V	AP1G1_uc002fba.2_Missense_Mutation_p.A647V|AP1G1_uc002fbb.2_Missense_Mutation_p.A667V|AP1G1_uc002faz.2_Missense_Mutation_p.A61V	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	644					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|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)				GCTTGTAGGCGCAGTTGGAAT	0.408												
ATMIN	23300	broad.mit.edu	37	16	81078429	81078429	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:81078429G>A	uc002ffz.1	+	4	2344	c.2326G>A	c.(2326-2328)GGG>AGG	p.G776R	ATMIN_uc002fga.2_Missense_Mutation_p.G618R|ATMIN_uc010vnn.1_Missense_Mutation_p.G547R|ATMIN_uc002fgb.1_Missense_Mutation_p.G618R	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	776					response to DNA damage stimulus	nucleus	zinc ion binding				0						TGAAACCCTGGGGAGCTTGTT	0.463												
CDH13	1012	broad.mit.edu	37	16	83378583	83378583	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:83378583C>T	uc002fgx.2	+	6	873	c.753C>T	c.(751-753)ATC>ATT	p.I251I	CDH13_uc010vns.1_Silent_p.I298I|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Silent_p.I212I	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	251	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GCCCCTACATCGGCCACGTCA	0.507												
KLHL36	79786	broad.mit.edu	37	16	84684525	84684525	+	Missense_Mutation	SNP	G	G	A	rs79842977	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:84684525G>A	uc002fig.2	+	2	193	c.52G>A	c.(52-54)GAA>AAA	p.E18K	KLHL36_uc010chl.2_Missense_Mutation_p.E17K	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	18										skin(2)	2						CAAGATCAGCGAATCATCAAA	0.438												
FOXF1	2294	broad.mit.edu	37	16	86544715	86544715	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:86544715G>A	uc002fjl.2	+	1	583	c.540G>A	c.(538-540)TCG>TCA	p.S180S	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	180					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0						GCGGCCTCTCGTGCCCGCCCA	0.687												
SMG6	23293	broad.mit.edu	37	17	2202634	2202634	+	Silent	SNP	C	C	T	rs149206280	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:2202634C>T	uc002fub.1	-	2	1468	c.1413G>A	c.(1411-1413)ACG>ACA	p.T471T	SMG6_uc002fud.1_Silent_p.T440T	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	471	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						GTAGCTGGGGCGTCTGAGTCT	0.517												
ATP2A3	489	broad.mit.edu	37	17	3850715	3850715	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:3850715C>T	uc002fxb.1	-	8	1216	c.1065G>A	c.(1063-1065)ACG>ACA	p.T355T	ATP2A3_uc002fwx.1_Silent_p.T355T|ATP2A3_uc002fwy.1_Silent_p.T355T|ATP2A3_uc002fwz.1_Silent_p.T355T|ATP2A3_uc002fxa.1_Silent_p.T355T|ATP2A3_uc002fxc.1_Silent_p.T355T|ATP2A3_uc002fxd.1_Silent_p.T355T	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	355	Cytoplasmic (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TGGTGGTGAGCGTGCCCGTCT	0.647												
MYBBP1A	10514	broad.mit.edu	37	17	4446270	4446270	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:4446270G>A	uc002fyb.3	-	20	2892	c.2830C>T	c.(2830-2832)CAT>TAT	p.H944Y	MYBBP1A_uc002fxz.3_Missense_Mutation_p.H944Y|MYBBP1A_uc002fya.3_5'Flank|MYBBP1A_uc010vsa.1_5'UTR	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	944					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2						TGTGTCTCATGCACGCAGCCC	0.662												
PELP1	27043	broad.mit.edu	37	17	4576294	4576294	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:4576294C>T	uc002fyi.3	-	16	2218	c.1992G>A	c.(1990-1992)CCG>CCA	p.P664P	PELP1_uc010vsf.1_Silent_p.P517P	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	664	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						GAGGATGGAACGGTGGGGCCC	0.721												
ZMYND15	84225	broad.mit.edu	37	17	4647919	4647919	+	Splice_Site	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:4647919G>T	uc002fyt.2	+	10	1606	c.1567_splice	c.e10-1	p.D523_splice	ZMYND15_uc002fyv.2_Splice_Site_p.D562_splice|ZMYND15_uc002fyu.2_Splice_Site_p.D562_splice	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2								zinc ion binding				0						GGGCCCCTCAGGACAGCCTGG	0.642												
CAMTA2	23125	broad.mit.edu	37	17	4875560	4875560	+	Silent	SNP	G	G	A	rs147321617		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:4875560G>A	uc002gah.1	-	16	2883	c.2775C>T	c.(2773-2775)GAC>GAT	p.D925D	CAMTA2_uc010cku.1_Silent_p.D948D|CAMTA2_uc002gag.1_Silent_p.D924D|CAMTA2_uc002gai.1_Silent_p.D927D|CAMTA2_uc010ckv.1_Silent_p.D572D	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	925					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						GGCTGTCAGCGTCCTCTGGAG	0.577												
NUP88	4927	broad.mit.edu	37	17	5314064	5314064	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:5314064T>C	uc002gbo.1	-	4	665	c.639A>G	c.(637-639)ATA>ATG	p.I213M	NUP88_uc010vsx.1_Missense_Mutation_p.I213M|NUP88_uc010cle.1_Missense_Mutation_p.I213M|NUP88_uc010vsy.1_Missense_Mutation_p.I213M	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	213					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						CTTCTGAAAGTATTATCACGT	0.348												
C17orf81	23587	broad.mit.edu	37	17	7158035	7158035	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7158035G>A	uc002gfg.1	+	5	477	c.370G>A	c.(370-372)GAT>AAT	p.D124N	DULLARD_uc002gfe.2_5'Flank|DULLARD_uc002gff.2_5'Flank|C17orf81_uc002gfj.2_Missense_Mutation_p.D124N|C17orf81_uc010cmb.2_Missense_Mutation_p.D124N|C17orf81_uc002gfh.1_Missense_Mutation_p.D124N|C17orf81_uc002gfi.1_Missense_Mutation_p.D124N|C17orf81_uc002gfk.1_Missense_Mutation_p.D124N|C17orf81_uc002gfl.1_Missense_Mutation_p.D124N	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	S-phase 2 protein isoform 4	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding				0						CATTGCTCTCGATTCACTCAG	0.582												
SLC2A4	6517	broad.mit.edu	37	17	7186563	7186563	+	Splice_Site	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7186563G>T	uc002gfp.2	+	2	234	c.34_splice	c.e2-1	p.D12_splice	SLC2A4_uc002gfo.2_Splice_Site_p.D12_splice|SLC2A4_uc010cmd.2_Splice_Site	NM_001042	NP_001033	P14672	GTR4_HUMAN	glucose transporter 4						carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding				0						TGCCTGTTCAGGATGGGGAAC	0.572												
NLGN2	57555	broad.mit.edu	37	17	7319189	7319189	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7319189C>T	uc002ggt.1	+	6	1470	c.1397C>T	c.(1396-1398)GCC>GTC	p.A466V		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	466	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)				CCAGCTGTGGCCACTGCCAAG	0.612												
CHRNB1	1140	broad.mit.edu	37	17	7351982	7351982	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7351982G>A	uc002ghb.2	+	7	736	c.695G>A	c.(694-696)CGC>CAC	p.R232H	CHRNB1_uc010vty.1_Missense_Mutation_p.R160H|CHRNB1_uc010vtz.1_Missense_Mutation_p.R66H	NM_000747	NP_000738	P11230	ACHB_HUMAN	nicotinic acetylcholine receptor beta 1 subunit	232	Extracellular (Potential).				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			ovary(2)	2		Prostate(122;0.157)				GAAGGACAGCGCCAGGAAGTC	0.562												
LSMD1	84316	broad.mit.edu	37	17	7760760	7760760	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7760760T>C	uc002giz.2	-	1	121	c.22A>G	c.(22-24)ATG>GTG	p.M8V	LSMD1_uc002gja.2_5'UTR|CYB5D1_uc010cnn.1_5'Flank|CYB5D1_uc002gjb.3_5'Flank			Q9BRA0	LSMD1_HUMAN	RecName: Full=LSM domain-containing protein 1; AltName: Full=Phosphonoformate immuno-associated protein 2;	8						cytoplasm|nucleus				ovary(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				CGTAGCAGCATGGTCGGTCCA	0.612												
CNTROB	116840	broad.mit.edu	37	17	7852792	7852792	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7852792G>A	uc002gjq.2	+	20	3595	c.2676G>A	c.(2674-2676)CCG>CCA	p.P892P	CNTROB_uc002gjp.2_Silent_p.P914P|CNTROB_uc002gjr.2_Silent_p.P795P	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	892	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				ACCCTGCCCCGAGTAGCATGA	0.547												
ARHGEF15	22899	broad.mit.edu	37	17	8215445	8215445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:8215445G>A	uc002glc.2	+	2	209	c.88G>A	c.(88-90)GCT>ACT	p.A30T	ARHGEF15_uc002glb.1_Missense_Mutation_p.A30T|ARHGEF15_uc002gld.2_Missense_Mutation_p.A30T|ARHGEF15_uc010vuw.1_Missense_Mutation_p.A30T	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	30	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TCGTTCCAGGGCTGCCCAGTC	0.622												
PIK3R5	23533	broad.mit.edu	37	17	8790929	8790929	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:8790929C>T	uc002glt.2	-	11	1755	c.1688G>A	c.(1687-1689)CGA>CAA	p.R563Q	PIK3R5_uc010vuz.1_Missense_Mutation_p.R563Q|PIK3R5_uc002glu.3_Missense_Mutation_p.R177Q	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	563					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						CCCATGACTTCGCTTCACAGG	0.607												
MYH13	8735	broad.mit.edu	37	17	10258072	10258072	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:10258072G>A	uc002gmk.1	-	11	1020	c.930C>T	c.(928-930)TTC>TTT	p.F310F		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	310	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						AGGGGAAGTCGAAGGGGTTGG	0.463												
MYH8	4626	broad.mit.edu	37	17	10296236	10296236	+	Missense_Mutation	SNP	G	G	A	rs144962215		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:10296236G>A	uc002gmm.2	-	37	5470	c.5375C>T	c.(5374-5376)ACG>ATG	p.T1792M	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1792	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						GTCCTTCACCGTCTGCTCCAG	0.557									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling			
MYH1	4619	broad.mit.edu	37	17	10404747	10404747	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:10404747G>A	uc002gmo.2	-	27	3512	c.3418C>T	c.(3418-3420)CGC>TGC	p.R1140C	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1140	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						AGATCAGAGCGCTGCTTCTCT	0.587												
MYH2	4620	broad.mit.edu	37	17	10441021	10441021	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:10441021G>A	uc010coi.2	-	15	1676	c.1548C>T	c.(1546-1548)TTC>TTT	p.F516F	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.F516F|MYH2_uc010coj.2_Silent_p.F516F	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	516	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GGTCCATCCCGAAGTCGATGA	0.463												
DNAH9	1770	broad.mit.edu	37	17	11775053	11775053	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:11775053C>T	uc002gne.2	+	52	10260	c.10192C>T	c.(10192-10194)CGG>TGG	p.R3398W	DNAH9_uc010coo.2_Missense_Mutation_p.R2692W	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3398					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)		AAAGAAATACCGGCAGAGCCT	0.383												
TEKT3	64518	broad.mit.edu	37	17	15212047	15212047	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:15212047T>C	uc002gon.2	-	8	1377	c.1190A>G	c.(1189-1191)CAG>CGG	p.Q397R		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	397					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CAGTCTGGTCTGAGCCACCTT	0.547												
TOM1L2	146691	broad.mit.edu	37	17	17788064	17788064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:17788064G>A	uc002grz.3	-	5	542	c.385C>T	c.(385-387)CGA>TGA	p.R129*	TOM1L2_uc002gry.3_Nonsense_Mutation_p.R79*|TOM1L2_uc010vwy.1_Nonsense_Mutation_p.R129*|TOM1L2_uc010cpr.2_Intron|TOM1L2_uc010vwz.1_Intron|TOM1L2_uc010vxa.1_Intron|TOM1L2_uc010vxb.1_Nonsense_Mutation_p.R79*	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	129	VHS.				intracellular protein transport	intracellular					0	all_neural(463;0.228)					GGACTGCTTCGAAAGGCATCA	0.512												
MYO15A	51168	broad.mit.edu	37	17	18058634	18058634	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:18058634G>A	uc010vxh.1	+	46	8685	c.8347G>A	c.(8347-8349)GTG>ATG	p.V2783M	MYO15A_uc010vxi.1_Missense_Mutation_p.V47M|MYO15A_uc010vxj.1_Translation_Start_Site|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2783	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CCAGGGCAGCGTGGGCACTGG	0.647												
CYTSB	92521	broad.mit.edu	37	17	20109123	20109123	+	Silent	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:20109123C>A	uc002gwq.2	+	4	1906	c.1761C>A	c.(1759-1761)GCC>GCA	p.A587A	CYTSB_uc010cqx.2_Silent_p.A587A|CYTSB_uc002gwr.2_Silent_p.A587A|CYTSB_uc002gws.2_Silent_p.A587A|CYTSB_uc002gwv.2_Silent_p.A506A|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Silent_p.A363A|CYTSB_uc002gwt.2_Silent_p.A506A|CYTSB_uc002gwu.2_Silent_p.A506A	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	587	Potential.					nucleus					0						TGAAAGTAGCCCGAGCAGAGA	0.473												
LGALS9B	284194	broad.mit.edu	37	17	20354904	20354904	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:20354904G>A	uc002gxa.1	-	10	879	c.814C>T	c.(814-816)CGT>TGT	p.R272C	LGALS9B_uc002gwz.1_Missense_Mutation_p.R271C|LGALS9B_uc010vzh.1_Missense_Mutation_p.R184C	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	galectin-9 like	272	Galectin 2.						sugar binding			skin(1)	1						TCATCAAAACGGGGGTTCATG	0.572												
DHRS7B	25979	broad.mit.edu	37	17	21087756	21087756	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:21087756G>A	uc002gyo.2	+	5	626	c.599G>A	c.(598-600)AGC>AAC	p.S200N		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	200	Peroxisomal (Potential).					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			pancreas(1)	1						GGCAAGATGAGCATTCCTTTT	0.448												
SEZ6	124925	broad.mit.edu	37	17	27287983	27287983	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:27287983C>T	uc002hdp.2	-	6	1443	c.1249G>A	c.(1249-1251)GGC>AGC	p.G417S	SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.G417S|SEZ6_uc002hdq.1_Missense_Mutation_p.G292S	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	417	Extracellular (Potential).|CUB 1.			AACG -> GECP (in Ref. 1; AAM22213/ AAK71497).|G -> P (in Ref. 1; AAM22213/AAK71497).		integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ATCACTCCGCCGCAAGCAGCT	0.607												
ABHD15	116236	broad.mit.edu	37	17	27889934	27889934	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:27889934G>T	uc002hed.1	-	2	1116	c.1052C>A	c.(1051-1053)CCT>CAT	p.P351H		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15 precursor	351						extracellular region	carboxylesterase activity				0						ACACAGCACAGGCACGGCTGC	0.592												
SSH2	85464	broad.mit.edu	37	17	27994231	27994231	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:27994231G>A	uc002heo.1	-	9	739	c.739C>T	c.(739-741)CGT>TGT	p.R247C	SSH2_uc010wbh.1_Missense_Mutation_p.R274C|SSH2_uc002hep.1_Missense_Mutation_p.R247C	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	247					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						GTTCGTTCACGTTCAGTAGGT	0.343												
GAS2L2	246176	broad.mit.edu	37	17	34077256	34077256	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:34077256C>T	uc002hjv.1	-	2	495	c.467G>A	c.(466-468)CGC>CAC	p.R156H		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	156	CH.				cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACGCCCGGCGGCCCAGCTC	0.677												
ACACA	31	broad.mit.edu	37	17	35478397	35478397	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:35478397C>T	uc002hnm.2	-	50	6234	c.6043G>A	c.(6043-6045)GGC>AGC	p.G2015S	ACACA_uc002hnk.2_Missense_Mutation_p.G1937S|ACACA_uc002hnl.2_Missense_Mutation_p.G1957S|ACACA_uc002hnn.2_Missense_Mutation_p.G2015S|ACACA_uc002hno.2_Missense_Mutation_p.G2052S|ACACA_uc010cuy.2_Missense_Mutation_p.G660S|ACACA_uc010wdb.1_Missense_Mutation_p.G53S|ACACA_uc010wdc.1_Missense_Mutation_p.G141S	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	2015	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAAACCTGGCCAGCCTGCTGG	0.458												
ACACA	31	broad.mit.edu	37	17	35614709	35614709	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:35614709G>A	uc002hnm.2	-	14	1822	c.1631C>T	c.(1630-1632)GCT>GTT	p.A544V	ACACA_uc002hnk.2_Missense_Mutation_p.A466V|ACACA_uc002hnl.2_Missense_Mutation_p.A486V|ACACA_uc002hnn.2_Missense_Mutation_p.A544V|ACACA_uc002hno.2_Missense_Mutation_p.A581V|ACACA_uc010cuz.2_Missense_Mutation_p.A544V	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	544	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCCTGCAGCAGCAACACTGAA	0.418												
PNMT	5409	broad.mit.edu	37	17	37826401	37826401	+	Missense_Mutation	SNP	C	C	T	rs111272760		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:37826401C>T	uc002hsi.1	+	3	830	c.608C>T	c.(607-609)ACG>ATG	p.T203M		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	203					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACATCACCACGCTGCTGAGG	0.672												
MED24	9862	broad.mit.edu	37	17	38183270	38183270	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:38183270C>T	uc002htt.2	-	17	1861	c.1548G>A	c.(1546-1548)TCG>TCA	p.S516S	MED24_uc010wes.1_Silent_p.S376S|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Silent_p.S541S|MED24_uc002htu.2_Silent_p.S503S|MED24_uc010cwn.2_Silent_p.S503S|MED24_uc010weu.1_Silent_p.S426S|MED24_uc010wev.1_Silent_p.S466S|MED24_uc010wew.1_Silent_p.S457S|MED24_uc010wex.1_Silent_p.S221S|SNORD124_uc010wey.1_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	516					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					CTCCTGTGCGCGACTCGGACA	0.672											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KRT16	3868	broad.mit.edu	37	17	39767342	39767342	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:39767342A>G	uc002hxg.3	-	4	1051	c.912T>C	c.(910-912)GCT>GCC	p.A304A	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	304	Rod.|Coil 2.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				ACCAGGTCTCAGCGTCTCTGC	0.602												
HDAC5	10014	broad.mit.edu	37	17	42165936	42165936	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:42165936G>A	uc002ifd.1	-	12	1629	c.1418C>T	c.(1417-1419)ACG>ATG	p.T473M	HDAC5_uc002ife.1_Missense_Mutation_p.T473M|HDAC5_uc002iff.1_Missense_Mutation_p.T474M|HDAC5_uc010czp.1_Missense_Mutation_p.T473M|HDAC5_uc002ifh.2_Missense_Mutation_p.T473M	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	473					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		ACGTTCACCCGTCACTAGTGG	0.657												
GPATCH8	23131	broad.mit.edu	37	17	42513884	42513884	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:42513884T>C	uc002igw.1	-	4	287	c.223A>G	c.(223-225)AAG>GAG	p.K75E	GPATCH8_uc002igv.1_5'UTR|GPATCH8_uc010wiz.1_5'UTR	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	75	G-patch.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACATCATACTTGACAACGATT	0.373												
FZD2	2535	broad.mit.edu	37	17	42635443	42635443	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:42635443T>C	uc002igx.1	+	1	519	c.387T>C	c.(385-387)GGT>GGC	p.G129G		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	129	FZ.|Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACAAGTTCGGTTTTCAGTGGC	0.692												
PLCD3	113026	broad.mit.edu	37	17	43196222	43196222	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:43196222G>A	uc002iib.2	-	5	987	c.873C>T	c.(871-873)CGC>CGT	p.R291R		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	291					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	GCTGCTGGGCGCGGGCCAGTG	0.423												
ACBD4	79777	broad.mit.edu	37	17	43221001	43221001	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:43221001G>T	uc010wjj.1	+	12	1488	c.1019G>T	c.(1018-1020)AGG>ATG	p.R340M	ACBD4_uc002iie.2_Missense_Mutation_p.R340M|ACBD4_uc002iif.2_3'UTR|ACBD4_uc002iic.2_3'UTR|ACBD4_uc010dae.2_Missense_Mutation_p.R262M	NM_001135704	NP_001129176	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	Error:Variant_position_missing_in_Q8NC06_after_alignment							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2						AGCCTTCCTAGGGTTTAGAAG	0.547												
FMNL1	752	broad.mit.edu	37	17	43321564	43321564	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:43321564G>A	uc002iin.2	+	19	2670	c.2470G>A	c.(2470-2472)GCC>ACC	p.A824T	FMNL1_uc002iiq.2_Missense_Mutation_p.A402T|FMNL1_uc010dag.2_RNA	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	824	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						CATCATTGCAGCCTCAATGTC	0.582												
DLX3	1747	broad.mit.edu	37	17	48072218	48072218	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:48072218C>T	uc002ipy.2	-	1	371	c.145G>A	c.(145-147)GAT>AAT	p.D49N		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	49						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GAGTAGTAATCGTGCTGGGGA	0.607												
LPO	4025	broad.mit.edu	37	17	56329565	56329565	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:56329565C>T	uc002ivt.2	+	8	1119	c.803C>T	c.(802-804)GCG>GTG	p.A268V	LPO_uc010wns.1_Missense_Mutation_p.A209V|LPO_uc010dcp.2_Missense_Mutation_p.A185V|LPO_uc010dcq.2_Intron|LPO_uc010dcr.2_5'UTR	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	268					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						GACCCCAAGGCGGGGACTCAA	0.607												
MTMR4	9110	broad.mit.edu	37	17	56585898	56585898	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:56585898G>A	uc002iwj.2	-	7	592	c.482C>T	c.(481-483)GCG>GTG	p.A161V		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	161	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCAAGCTCCGCCTCCTGTCG	0.542												
DHX40	79665	broad.mit.edu	37	17	57679954	57679954	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:57679954C>T	uc002ixn.1	+	15	2025	c.1878C>T	c.(1876-1878)GGC>GGT	p.G626G	DHX40_uc010woe.1_Silent_p.G549G|DHX40_uc010wof.1_Silent_p.G141G	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	626							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTGTGCGGGCTATTTCAAAA	0.328												
BCAS3	54828	broad.mit.edu	37	17	58786631	58786631	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:58786631C>T	uc002iyv.3	+	5	375	c.266C>T	c.(265-267)CCG>CTG	p.P89L	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.P89L|BCAS3_uc002iyw.3_Missense_Mutation_p.P85L	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	89	WD 1.					nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GGGAATGAACCGCCTTTGTTG	0.368												
ACE	1636	broad.mit.edu	37	17	61573866	61573866	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:61573866G>A	uc002jau.1	+	23	3514	c.3492G>A	c.(3490-3492)GGG>GGA	p.G1164G	ACE_uc002jav.1_Silent_p.G590G|ACE_uc010ddv.1_Silent_p.G391G|ACE_uc010wpj.1_Intron|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Intron	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	1164	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGGAGGCCGGGCAGCGCCTGG	0.627												
NOL11	25926	broad.mit.edu	37	17	65720271	65720271	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:65720271C>T	uc002jgd.1	+	6	629	c.626C>T	c.(625-627)GCA>GTA	p.A209V	NOL11_uc010wql.1_Missense_Mutation_p.A27V|NOL11_uc010deu.1_5'UTR	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	209						nucleolus					0	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGTTTTACTGCATCTGTAGAT	0.303												
BPTF	2186	broad.mit.edu	37	17	65942195	65942195	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:65942195G>T	uc002jgf.2	+	21	7432	c.7371G>T	c.(7369-7371)CAG>CAT	p.Q2457H	BPTF_uc002jge.2_Intron|BPTF_uc002jgg.2_Intron|BPTF_uc002jgh.2_5'Flank	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2583					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTCAGATACAGGCTCAGCAAA	0.493												
C17orf77	146723	broad.mit.edu	37	17	72588709	72588709	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:72588709C>T	uc002jla.1	+	3	886	c.524C>T	c.(523-525)ACG>ATG	p.T175M	CD300LD_uc002jkz.2_5'Flank	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	hypothetical protein LOC146723	175						extracellular region					0						GAGGAGAGGACGGACAAGGCC	0.612												
GGA3	23163	broad.mit.edu	37	17	73235131	73235131	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:73235131T>G	uc002jni.1	-	15	1823	c.1814A>C	c.(1813-1815)AAC>ACC	p.N605T	GGA3_uc002jnj.1_Missense_Mutation_p.N572T|GGA3_uc010wrw.1_Missense_Mutation_p.N483T|GGA3_uc002jnk.1_Missense_Mutation_p.N533T|GGA3_uc010wrx.1_Missense_Mutation_p.N483T|GGA3_uc010wry.1_Missense_Mutation_p.N533T	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	605	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GCGGAAGCCGTTTTTATCGTA	0.592											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GGA3	23163	broad.mit.edu	37	17	73237561	73237561	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:73237561A>G	uc002jni.1	-	10	875	c.866T>C	c.(865-867)GTC>GCC	p.V289A	GGA3_uc002jnj.1_Missense_Mutation_p.V256A|GGA3_uc010wrw.1_Missense_Mutation_p.V167A|GGA3_uc002jnk.1_Missense_Mutation_p.V217A|GGA3_uc010wrx.1_Missense_Mutation_p.V167A|GGA3_uc010wry.1_Missense_Mutation_p.V217A	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	289	GAT.|Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			AGAGTTGATGACCCGGGAGAG	0.522												
TSEN54	283989	broad.mit.edu	37	17	73518266	73518266	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:73518266C>T	uc002jof.1	+	8	1137	c.1104C>T	c.(1102-1104)GCC>GCT	p.A368A		NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	tRNA splicing endonuclease 54 homolog	368					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGTCAACGCCGATCCCGAGG	0.682												
ITGB4	3691	broad.mit.edu	37	17	73748326	73748326	+	Missense_Mutation	SNP	C	C	T	rs34092482		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:73748326C>T	uc002jpg.2	+	31	4052	c.3865C>T	c.(3865-3867)CGG>TGG	p.R1289W	ITGB4_uc002jph.2_Missense_Mutation_p.R1289W|ITGB4_uc002jpi.3_Missense_Mutation_p.R1289W|ITGB4_uc002jpj.2_Missense_Mutation_p.R1289W|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1289	Fibronectin type-III 2.|Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAGAACCTTCGGGAGTCCCA	0.617												
FBF1	85302	broad.mit.edu	37	17	73922938	73922938	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:73922938C>A	uc002jqc.2	-	9	728	c.454G>T	c.(454-456)GGA>TGA	p.G152*	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Nonsense_Mutation_p.G142*|FBF1_uc002jqd.1_Nonsense_Mutation_p.G152*	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	152											0						GAGAGAAGTCCTCTCAATGGG	0.522												
GALR2	8811	broad.mit.edu	37	17	74071298	74071298	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:74071298A>G	uc002jqm.1	+	1	415	c.334A>G	c.(334-336)AGC>GGC	p.S112G	SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	112	Helical; Name=3; (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						CATGCACGCCAGCAGCTTCAC	0.677												
RHBDF2	79651	broad.mit.edu	37	17	74475291	74475291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:74475291C>T	uc002jrq.1	-	5	721	c.428G>A	c.(427-429)AGC>AAC	p.S143N	RHBDF2_uc002jrp.1_Missense_Mutation_p.S114N|RHBDF2_uc002jrr.1_5'UTR|RHBDF2_uc010wtf.1_Missense_Mutation_p.S114N|RHBDF2_uc002jrs.1_Missense_Mutation_p.S114N	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	rhomboid, veinlet-like 6 isoform 1	143	Cytoplasmic (Potential).				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity				0						GTGGTGCAGGCTGCGGCGCTG	0.692												
TMC8	147138	broad.mit.edu	37	17	76137013	76137013	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:76137013A>T	uc002jup.2	+	16	2383	c.2001A>T	c.(1999-2001)CAA>CAT	p.Q667H	TMC8_uc002juq.2_Missense_Mutation_p.Q444H	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	667	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CTGCCTCCCAAGCTTCGCGCC	0.731									Epidermodysplasia_Verruciformis_Familial_Clustering_of			
LGALS3BP	3959	broad.mit.edu	37	17	76970808	76970808	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:76970808C>T	uc002jwh.2	-	4	517	c.338G>A	c.(337-339)TGC>TAC	p.C113Y	LGALS3BP_uc002jwi.2_Intron|LGALS3BP_uc010dhr.2_Intron	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	galectin 3 binding protein	113	SRCR.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			central_nervous_system(3)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTCGTGCCTGCAGTTGCTCTT	0.672												
RNF213	57674	broad.mit.edu	37	17	78345759	78345759	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:78345759T>C	uc002jyh.1	+	22	6953	c.6730T>C	c.(6730-6732)TAC>CAC	p.Y2244H	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.Y626H	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)			AACTGAACTGTACATGCTCTT	0.333												
SMCHD1	23347	broad.mit.edu	37	18	2700849	2700849	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:2700849C>T	uc002klm.3	+	12	1769	c.1580C>T	c.(1579-1581)ACG>ATG	p.T527M	SMCHD1_uc002klk.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	527					chromosome organization		ATP binding				0						AATAAATTGACGTTTATGGAT	0.328												
DLGAP1	9229	broad.mit.edu	37	18	3879724	3879724	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:3879724G>A	uc002kmf.2	-	1	412	c.345C>T	c.(343-345)CGC>CGT	p.R115R	DLGAP1_uc010wyz.1_Silent_p.R115R|DLGAP1_uc002kmk.2_Silent_p.R115R|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	115					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GATAGCCATCGCGGCTGAGTG	0.687												
SEH1L	81929	broad.mit.edu	37	18	12951893	12951893	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:12951893G>A	uc002krr.2	+	2	289	c.151G>A	c.(151-153)GCT>ACT	p.A51T	SEH1L_uc002krq.2_Missense_Mutation_p.A51T	NM_031216	NP_112493	Q96EE3	SEH1_HUMAN	sec13-like protein isoform 2	51					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex					0						GCATTGTACTGCTAGCTGGAA	0.249												
ZNF521	25925	broad.mit.edu	37	18	22806905	22806905	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:22806905T>C	uc002kvk.2	-	4	1224	c.977A>G	c.(976-978)TAC>TGC	p.Y326C	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.Y326C|ZNF521_uc002kvl.2_Missense_Mutation_p.Y106C	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	326	C2H2-type 8.				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)					CATGTGGCTGTACAGTTCCTC	0.537			T	PAX5	ALL							
GALNT1	2589	broad.mit.edu	37	18	33243730	33243730	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:33243730C>T	uc010dmu.2	+	3	331	c.278C>T	c.(277-279)GCA>GTA	p.A93V	GALNT1_uc002kyz.3_Missense_Mutation_p.A33V|GALNT1_uc002kza.2_Missense_Mutation_p.A93V|GALNT1_uc002kzb.2_Missense_Mutation_p.A93V	NM_020474	NP_065207	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	93	Lumenal (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						GAGATGATTGCACTCAACAGA	0.343												
SLC14A2	8170	broad.mit.edu	37	18	43253755	43253755	+	Nonsense_Mutation	SNP	C	C	T	rs151319242		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:43253755C>T	uc010dnj.2	+	19	2806	c.2485C>T	c.(2485-2487)CAG>TAG	p.Q829*	SLC14A2_uc002lbe.2_Nonsense_Mutation_p.Q829*	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	829						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						CATCACCTGGCAGACGCACCT	0.478												
C18orf25	147339	broad.mit.edu	37	18	43795786	43795786	+	Translation_Start_Site	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:43795786C>A	uc002lbw.2	+	2	319	c.-60C>A	c.(-62--58)TCCTG>TCATG		C18orf25_uc002lbx.2_Translation_Start_Site	NM_145055	NP_659492	Q96B23	CR025_HUMAN	ARKadia-like 1 isoform a											central_nervous_system(2)	2						GGTTGCTTTCCTGTTGCATCT	0.383												
DCC	1630	broad.mit.edu	37	18	50936877	50936877	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:50936877G>A	uc002lfe.1	+	20	3578	c.2991G>A	c.(2989-2991)ATG>ATA	p.M997I	DCC_uc010xdr.1_Missense_Mutation_p.M825I|DCC_uc010dpf.1_Missense_Mutation_p.M632I	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	997	Extracellular (Potential).|Fibronectin type-III 6.				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)		ACTGGATTATGGAAACAATCA	0.363												
SERPINB4	6318	broad.mit.edu	37	18	61306894	61306894	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:61306894T>C	uc002ljf.2	-	6	672	c.586A>G	c.(586-588)AAA>GAA	p.K196E	SERPINB4_uc002lje.2_Missense_Mutation_p.K196E|SERPINB4_uc002ljg.2_Intron	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	196					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						TTTTCCTCTTTAGTGTTTTCT	0.308												
CDH7	1005	broad.mit.edu	37	18	63547708	63547708	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:63547708A>G	uc002ljz.2	+	12	2261	c.1936A>G	c.(1936-1938)ATC>GTC	p.I646V	CDH7_uc002lkb.2_Missense_Mutation_p.I646V	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	646	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				AGAAAGAGACATCAGAGAAAA	0.453												
CDH19	28513	broad.mit.edu	37	18	64235727	64235727	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:64235727G>A	uc002lkc.1	-	3	554	c.416C>T	c.(415-417)TCG>TTG	p.S139L	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.S139L|CDH19_uc002lkd.2_Missense_Mutation_p.S139L	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	139	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				ATTGATATCCGAAACTTTGAT	0.418												
NETO1	81832	broad.mit.edu	37	18	70450955	70450955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:70450955G>A	uc002lkw.2	-	7	1110	c.826C>T	c.(826-828)CGA>TGA	p.R276*	NETO1_uc002lkx.1_Nonsense_Mutation_p.R275*|NETO1_uc002lky.1_Nonsense_Mutation_p.R276*	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	276	CUB 2.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CGGCTGTTTCGACTGCCCTCA	0.468												
MBP	4155	broad.mit.edu	37	18	74729219	74729219	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:74729219C>T	uc010xfd.1	-	4	409	c.145G>A	c.(145-147)GCA>ACA	p.A49T	MBP_uc002lml.2_5'Flank|MBP_uc002lmn.2_5'Flank|MBP_uc002lmp.2_5'Flank|MBP_uc010xfe.1_5'UTR|MBP_uc002lmr.2_Missense_Mutation_p.A49T	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Golli-mbp isoform 1	49					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			haematopoietic_and_lymphoid_tissue(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		TTCGCATCTGCCTCTCCTGCA	0.562												
MIER2	54531	broad.mit.edu	37	19	327209	327209	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:327209C>T	uc002lok.1	-	5	426	c.417G>A	c.(415-417)ACG>ACA	p.T139T		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CAGATGATTGCGTCTCTTCCT	0.463												
GNA11	2767	broad.mit.edu	37	19	3119273	3119273	+	Missense_Mutation	SNP	G	G	A	rs144829732		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:3119273G>A	uc002lxd.2	+	6	1047	c.805G>A	c.(805-807)GTC>ATC	p.V269I	uc010xhe.1_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	269					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			eye(70)|skin(16)	86		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GAACTCCTCCGTCATCCTCTT	0.597			Mis		uveal melanoma							
TJP3	27134	broad.mit.edu	37	19	3748014	3748014	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:3748014G>A	uc010xhv.1	+	18	2644	c.2644G>A	c.(2644-2646)GTG>ATG	p.V882M	TJP3_uc010xhs.1_Missense_Mutation_p.V849M|TJP3_uc010xht.1_Missense_Mutation_p.V813M|TJP3_uc010xhu.1_Missense_Mutation_p.V858M|TJP3_uc010xhw.1_Missense_Mutation_p.V868M	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	863						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGGAGCCCGTGCAGGCAGA	0.692												
MAP2K2	5605	broad.mit.edu	37	19	4117450	4117450	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:4117450C>T	uc002lzk.2	-	2	524	c.270G>A	c.(268-270)CAG>CAA	p.Q90Q		NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	90	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGTCTGTGCTGGACTTTGG	0.632									Cardiofaciocutaneous_syndrome			
MPND	84954	broad.mit.edu	37	19	4357406	4357406	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:4357406G>A	uc002mae.2	+	9	1220	c.1153G>A	c.(1153-1155)GCC>ACC	p.A385T	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.A335T|MPND_uc002maf.2_Missense_Mutation_p.A385T|MPND_uc002mah.2_Missense_Mutation_p.A273T|MPND_uc002mai.2_Missense_Mutation_p.A244T	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	385							peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTGCCTCGCCCTGCTCTG	0.692												
C3	718	broad.mit.edu	37	19	6680187	6680187	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:6680187A>G	uc002mfm.2	-	36	4500	c.4438T>C	c.(4438-4440)TAC>CAC	p.Y1480H	C3_uc002mfl.2_Missense_Mutation_p.Y216H	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1480					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)		TAATAGGCGTAGACCTTGACT	0.512												
LRRC8E	80131	broad.mit.edu	37	19	7964276	7964276	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:7964276C>T	uc002mir.2	+	3	970	c.869C>T	c.(868-870)ACG>ATG	p.T290M		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	290						integral to membrane				lung(1)|pancreas(1)	2						AGGGTGGAGACGTCAGAGGTC	0.547												
ACTL9	284382	broad.mit.edu	37	19	8808894	8808894	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:8808894A>T	uc002mkl.2	-	1	279	c.158T>A	c.(157-159)GTT>GAT	p.V53D		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	53						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						CATGTCAATAACCACCACGCC	0.647												
MUC16	94025	broad.mit.edu	37	19	9060506	9060506	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:9060506A>G	uc002mkp.2	-	3	27144	c.26940T>C	c.(26938-26940)TCT>TCC	p.S8980S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8982	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTATGGTTGTAGAAACAATGT	0.498												
YIPF2	78992	broad.mit.edu	37	19	11038348	11038348	+	Silent	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:11038348G>T	uc002mqb.2	-	4	361	c.237C>A	c.(235-237)ACC>ACA	p.T79T	YIPF2_uc002mqc.2_Silent_p.T79T|C19orf52_uc002mqd.1_5'Flank	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	79	Cytoplasmic (Potential).					integral to membrane|transport vesicle					0						AGTAGCTGAAGGTCCAGAATC	0.527												
SMARCA4	6597	broad.mit.edu	37	19	11138595	11138595	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:11138595G>A	uc002mqf.3	+	24	3635	c.3351G>A	c.(3349-3351)GCG>GCA	p.A1117A	SMARCA4_uc010dxp.2_Silent_p.A1117A|SMARCA4_uc010dxo.2_Silent_p.A1117A|SMARCA4_uc002mqg.1_Silent_p.A1117A|SMARCA4_uc010dxq.2_Silent_p.A1117A|SMARCA4_uc010dxr.2_Silent_p.A1117A|SMARCA4_uc002mqj.3_Silent_p.A1117A|SMARCA4_uc010dxs.2_Silent_p.A1117A|SMARCA4_uc010dxt.1_Silent_p.A337A|SMARCA4_uc002mqh.3_Silent_p.A240A|SMARCA4_uc002mqi.1_Silent_p.A320A	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1117	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATTACTTTGCGTATCGCGGCT	0.473			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
KANK2	25959	broad.mit.edu	37	19	11280823	11280823	+	Silent	SNP	G	G	A	rs146928170		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:11280823G>A	uc010dxv.2	-	13	2871	c.2313C>T	c.(2311-2313)GAC>GAT	p.D771D	KANK2_uc002mqm.2_Silent_p.D779D|KANK2_uc002mqo.3_Silent_p.D771D|KANK2_uc002mqp.1_Silent_p.D580D	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	771	ANK 4.										0						CCGTGGAGCCGTCATCATCTT	0.647												
MAN2B1	4125	broad.mit.edu	37	19	12774530	12774530	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:12774530C>T	uc002mub.2	-	5	826	c.750G>A	c.(748-750)GCG>GCA	p.A250A	MAN2B1_uc010dyv.1_Silent_p.A250A	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	250					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						TGAAGAGGTCCGCGGTCGGGG	0.443												
MAST1	22983	broad.mit.edu	37	19	12985409	12985409	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:12985409T>C	uc002mvm.2	+	26	4566	c.4438T>C	c.(4438-4440)TGG>CGG	p.W1480R		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1480					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CCGGGAGCGCTGGGTGTTGGA	0.731												
PRKACA	5566	broad.mit.edu	37	19	14211688	14211688	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:14211688G>A	uc002myc.2	-	5	569	c.369C>T	c.(367-369)TAC>TAT	p.Y123Y	PRKACA_uc002myb.2_Silent_p.Y115Y|PRKACA_uc010xnm.1_Silent_p.Y65Y|PRKACA_uc002myd.2_Silent_p.Y65Y	NM_002730	NP_002721	P17612	KAPCA_HUMAN	cAMP-dependent protein kinase catalytic subunit	123	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			lung(1)	1						CGCCGGGCACGTACTCCATGA	0.602												
PKN1	5585	broad.mit.edu	37	19	14574680	14574680	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:14574680C>T	uc002myp.2	+	11	1704	c.1536C>T	c.(1534-1536)GTC>GTT	p.V512V	PKN1_uc002myq.2_Silent_p.V518V	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	512					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						ACATCGATGTCGCCACGTGGG	0.682												
EMR2	30817	broad.mit.edu	37	19	14854579	14854579	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:14854579G>A	uc002mzp.1	-	19	2657	c.2201C>T	c.(2200-2202)GCG>GTG	p.A734V	EMR2_uc010dzs.1_Missense_Mutation_p.A193V|EMR2_uc010xnw.1_Missense_Mutation_p.A676V|EMR2_uc002mzo.1_Missense_Mutation_p.A723V|EMR2_uc002mzq.1_Missense_Mutation_p.A674V|EMR2_uc002mzr.1_Missense_Mutation_p.A685V|EMR2_uc002mzs.1_Missense_Mutation_p.A592V|EMR2_uc002mzt.1_Missense_Mutation_p.A630V|EMR2_uc002mzu.1_Missense_Mutation_p.A641V|EMR2_uc010xnx.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	734	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						CTGAGCTGTCGCTTTAAATGC	0.547												
SLC1A6	6511	broad.mit.edu	37	19	15079275	15079275	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:15079275G>A	uc002naa.1	-	3	396	c.388C>T	c.(388-390)CGG>TGG	p.R130W	SLC1A6_uc010dzu.1_Missense_Mutation_p.R130W|SLC1A6_uc010xod.1_Intron|SLC1A6_uc002nab.2_Missense_Mutation_p.R130W|SLC1A6_uc002nac.2_Missense_Mutation_p.R130W|SLC1A6_uc002nad.1_Missense_Mutation_p.R130W	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	130					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	ACAGCTGCCCGCATCCCCATC	0.607												
BRD4	23476	broad.mit.edu	37	19	15383721	15383721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:15383721G>A	uc002nar.2	-	2	412	c.190C>T	c.(190-192)CAA>TAA	p.Q64*	BRD4_uc002nas.2_Nonsense_Mutation_p.Q64*|BRD4_uc002nat.3_Nonsense_Mutation_p.Q64*|BRD4_uc002nau.3_Nonsense_Mutation_p.Q64*	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	64					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGCAGGTATTGCAGTTGGTTG	0.602			T	NUT|C15orf55	lethal midline carcinoma of young people							
CYP4F3	4051	broad.mit.edu	37	19	15752261	15752261	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:15752261G>A	uc002nbj.2	+	2	86	c.36G>A	c.(34-36)TGG>TGA	p.W12*	CYP4F3_uc010xok.1_Nonsense_Mutation_p.W12*|CYP4F3_uc010xol.1_Nonsense_Mutation_p.W12*|CYP4F3_uc010xom.1_5'UTR|CYP4F3_uc002nbk.2_Nonsense_Mutation_p.W12*	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	12	Helical; (Potential).				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						TGGGCCTTTGGCCAATGGCAG	0.652												
SIN3B	23309	broad.mit.edu	37	19	16976446	16976446	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:16976446G>A	uc002ney.1	+	12	1719	c.1705G>A	c.(1705-1707)GTT>ATT	p.V569I	SIN3B_uc002nez.1_Missense_Mutation_p.V537I|SIN3B_uc010xpi.1_Missense_Mutation_p.V127I	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	569	Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						CGCTGTCCCCGTTGTCCTGAA	0.448												
USHBP1	83878	broad.mit.edu	37	19	17361173	17361173	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:17361173C>T	uc002nfs.1	-	13	2086	c.1973G>A	c.(1972-1974)CGC>CAC	p.R658H	USHBP1_uc002nfr.1_Missense_Mutation_p.R284H|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.R594H	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	658	Potential.						PDZ domain binding			ovary(1)	1						CAACTTCCGGCGTTGCTCTTC	0.672												
PIK3R2	5296	broad.mit.edu	37	19	18277076	18277076	+	Missense_Mutation	SNP	G	G	A	rs143821279		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:18277076G>A	uc002nia.1	+	12	2035	c.1523G>A	c.(1522-1524)CGC>CAC	p.R508H	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	508					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						TACCTGGAGCGCTTCCGGCGT	0.502												
KIAA1683	80726	broad.mit.edu	37	19	18376403	18376403	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:18376403C>T	uc002nin.2	-	3	2163	c.1947G>A	c.(1945-1947)GTG>GTA	p.V649V	KIAA1683_uc010ebn.2_Silent_p.V649V|KIAA1683_uc010xqe.1_Silent_p.V603V	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	649						mitochondrion				ovary(2)	2						TGTCTACAGGCACATACACGT	0.587												
KIAA0892	23383	broad.mit.edu	37	19	19431805	19431805	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:19431805T>C	uc002nmk.3	+	1	176	c.137T>C	c.(136-138)CTG>CCG	p.L46P	SF4_uc002nmh.2_5'Flank|SF4_uc002nmi.2_5'Flank|SF4_uc002nmj.2_5'Flank|SF4_uc010xqr.1_5'Flank|SF4_uc010xqs.1_5'Flank	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	hypothetical protein LOC23383 precursor	46	Sufficient for interaction with NIPBL.				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding				0						AAAATCCGCCTGTGCGTGCAC	0.557												
RHPN2	85415	broad.mit.edu	37	19	33493301	33493301	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:33493301C>G	uc002nuf.2	-	9	1023	c.957G>C	c.(955-957)GAG>GAC	p.E319D	RHPN2_uc010xro.1_Missense_Mutation_p.E168D|RHPN2_uc002nue.2_Missense_Mutation_p.E49D	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	319	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					GTTGGTAGACCTCTCCCACCT	0.587												
LRP3	4037	broad.mit.edu	37	19	33697253	33697253	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:33697253G>A	uc010edh.2	+	5	1670	c.1577G>A	c.(1576-1578)CGC>CAC	p.R526H	LRP3_uc010xrp.1_Missense_Mutation_p.R400H|LRP3_uc002nuk.3_Missense_Mutation_p.R400H	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	526	Cytoplasmic (Potential).				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					TACTCACTGCGCACGCAGGAA	0.657												
KCTD15	79047	broad.mit.edu	37	19	34297878	34297878	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:34297878G>A	uc002nuy.3	+	5	621	c.353G>A	c.(352-354)CGG>CAG	p.R118Q	KCTD15_uc002nuv.2_Missense_Mutation_p.R118Q|KCTD15_uc002nuw.3_Missense_Mutation_p.R118Q|KCTD15_uc010xrt.1_Missense_Mutation_p.R118Q|KCTD15_uc002nux.3_Missense_Mutation_p.R118Q	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	118	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					AGCTTCCTGCGGACGTCCAAG	0.542												
KCTD15	79047	broad.mit.edu	37	19	34302307	34302307	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:34302307C>T	uc002nuy.3	+	6	811	c.543C>T	c.(541-543)ATC>ATT	p.I181I	KCTD15_uc002nuv.2_Silent_p.I181I|KCTD15_uc002nuw.3_Silent_p.I181I|KCTD15_uc010xrt.1_Silent_p.I181I|KCTD15_uc002nux.3_Silent_p.I181I	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	181						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					GCGAGCGGATCGCACTCAGCG	0.701												
FAM187B	148109	broad.mit.edu	37	19	35719411	35719411	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:35719411C>G	uc002nyk.1	-	1	218	c.173G>C	c.(172-174)GGC>GCC	p.G58A		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	58	Extracellular (Potential).					integral to membrane				ovary(2)	2						GCCCTTCTTGCCTTGTGTGAA	0.517												
LRFN3	79414	broad.mit.edu	37	19	36435744	36435744	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:36435744C>T	uc002oco.2	+	3	2162	c.1710C>T	c.(1708-1710)CCC>CCT	p.P570P		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	570	Cytoplasmic (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCAGCCCCCCGGCAAGGCCA	0.468												
ZNF793	390927	broad.mit.edu	37	19	38028433	38028433	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:38028433C>T	uc010efm.2	+	8	1315	c.873C>T	c.(871-873)GCC>GCT	p.A291A	ZNF793_uc010xts.1_Silent_p.A291A|ZNF793_uc010efo.2_Intron	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	zinc finger protein 793	291	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGGGAAAGCCTTTACCCAGA	0.458												
PLD3	23646	broad.mit.edu	37	19	40877625	40877625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:40877625C>T	uc002onm.3	+	9	1122	c.724C>T	c.(724-726)CGA>TGA	p.R242*	PLD3_uc002onj.3_Nonsense_Mutation_p.R242*|PLD3_uc002onk.3_Nonsense_Mutation_p.R242*|PLD3_uc002onl.3_Nonsense_Mutation_p.R242*|PLD3_uc002onn.2_Nonsense_Mutation_p.R242*	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	242	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CTGCCTGGCTCGAGACCTGAC	0.587												
NUMBL	9253	broad.mit.edu	37	19	41188832	41188832	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:41188832G>A	uc002oon.2	-	4	459	c.291C>T	c.(289-291)CAC>CAT	p.H97H	NUMBL_uc010xvq.1_Silent_p.H56H|NUMBL_uc002ooo.2_Silent_p.H97H|NUMBL_uc010xvr.1_Silent_p.H56H	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	97	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CTTCACACACGTGCATTCCCC	0.597												
CYP2A7	1549	broad.mit.edu	37	19	41386388	41386388	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:41386388C>T	uc002opm.2	-	3	1031	c.489G>A	c.(487-489)ACG>ACA	p.T163T	CYP2A7_uc002opo.2_Silent_p.T163T|CYP2A7_uc002opn.2_Silent_p.T112T	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	163				T -> S (in Ref. 1; AAA52138).		endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACTCACCGTGCGTGCTCCGGA	0.662												
PSG9	5678	broad.mit.edu	37	19	43772054	43772054	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:43772054G>A	uc002owd.3	-	2	411	c.312C>T	c.(310-312)AAC>AAT	p.N104N	PSG9_uc002owe.3_Silent_p.N104N|PSG9_uc010xwm.1_Silent_p.N104N|PSG9_uc002owf.3_Silent_p.N104N|PSG9_uc002owg.2_Silent_p.N104N|PSG9_uc002owh.2_Silent_p.N104N	NM_002784	NP_002775	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	104	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				GCAGGGATGCGTTGGAATATA	0.403												
APOE	348	broad.mit.edu	37	19	45411139	45411139	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:45411139C>T	uc002pab.2	+	3	249	c.166C>T	c.(166-168)CGC>TGC	p.R56C		NM_000041	NP_000032	P02649	APOE_HUMAN	apolipoprotein E precursor	56					anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGATTACCTGCGCTGGGTGCA	0.652												
SFRS16	11129	broad.mit.edu	37	19	45543570	45543570	+	Splice_Site	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:45543570G>A	uc002pak.2	+	2	197	c.99_splice	c.e2+1	p.I33_splice	SFRS16_uc002pal.2_Splice_Site|SFRS16_uc010xxh.1_Splice_Site_p.I33_splice|SFRS16_uc002pam.2_Splice_Site_p.I33_splice|SFRS16_uc002pan.1_Splice_Site	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16						mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGAAAAGATCGTGAGTAACTG	0.542												
GIPR	2696	broad.mit.edu	37	19	46180981	46180981	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:46180981A>G	uc002pcu.1	+	10	967	c.868A>G	c.(868-870)AAC>GAC	p.N290D	GIPR_uc002pct.1_Missense_Mutation_p.N290D|GIPR_uc010xxp.1_Missense_Mutation_p.N254D|GIPR_uc010xxq.1_Intron	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	290	Extracellular (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CTGGGAGCGCAACGAAGTCAA	0.577												
PNMAL2	57469	broad.mit.edu	37	19	46998569	46998569	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:46998569G>A	uc002pes.2	-	1	601	c.154C>T	c.(154-156)CGA>TGA	p.R52*	uc002peu.1_3'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	52										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ttcatgtgtcgcaacctgaac	0												
GRLF1	2909	broad.mit.edu	37	19	47425354	47425354	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:47425354G>A	uc010ekv.2	+	1	3422	c.3422G>A	c.(3421-3423)AGC>AAC	p.S1141N		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	1141					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		ATGGACACCAGCTCTCTAGAG	0.562												
ZC3H4	23211	broad.mit.edu	37	19	47572412	47572412	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:47572412C>G	uc002pga.3	-	14	2373	c.2335G>C	c.(2335-2337)GAG>CAG	p.E779Q	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	779	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCCTCCTCCTGCTGCTTC	0.701												
GLTSCR1	29998	broad.mit.edu	37	19	48184029	48184029	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:48184029C>T	uc002phh.3	+	6	1796	c.1602C>T	c.(1600-1602)TCC>TCT	p.S534S	GLTSCR1_uc002phi.3_Silent_p.S292S	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	534							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCCCCACTCCGGGGCCCACA	0.711												
KCNA7	3743	broad.mit.edu	37	19	49575417	49575417	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:49575417C>T	uc002pmg.2	-	1	782	c.426G>A	c.(424-426)GCG>GCA	p.A142A		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related	142						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)	1		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CGAGCACGCGCGCGGCCTGAG	0.711												
SYT3	84258	broad.mit.edu	37	19	51129177	51129177	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:51129177G>A	uc002pst.2	-	5	2013	c.1379C>T	c.(1378-1380)GCG>GTG	p.A460V	SYT3_uc002psv.2_Missense_Mutation_p.A460V|SYT3_uc010ycd.1_Missense_Mutation_p.A460V	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	460	C2 2.|Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GAGGTCCATCGCTTTGAGGTT	0.373												
ACPT	93650	broad.mit.edu	37	19	51297840	51297840	+	Splice_Site	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:51297840T>C	uc002pta.1	+	9	986	c.986_splice	c.e9+2	p.G329_splice		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor							integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGATGGAGGGTGAGAATGGTT	0.617												
ZNF665	79788	broad.mit.edu	37	19	53667933	53667933	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:53667933C>T	uc010eqm.1	-	4	1910	c.1810G>A	c.(1810-1812)GGC>AGC	p.G604S		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	539	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0196)		AAGACCTTGCCACATTCATTA	0.388												
LENG9	94059	broad.mit.edu	37	19	54973657	54973657	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:54973657A>G	uc010yez.1	-	1	1238	c.1119T>C	c.(1117-1119)GCT>GCC	p.A373A		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	373					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCTCCTCCCCAGCGCCTGCCA	0.652												
ZNF606	80095	broad.mit.edu	37	19	58490991	58490991	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:58490991T>C	uc002qqw.2	-	7	1675	c.1057A>G	c.(1057-1059)ATC>GTC	p.I353V	ZNF606_uc010yhp.1_Missense_Mutation_p.I263V	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AAATAAAAGATATTCTCATAT	0.333												
PXDN	7837	broad.mit.edu	37	2	1652415	1652415	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:1652415G>A	uc002qxa.2	-	17	3201	c.3137C>T	c.(3136-3138)ACG>ATG	p.T1046M		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1046					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTCTCCCAGCGTCCTCATGCC	0.602												
GRHL1	29841	broad.mit.edu	37	2	10136026	10136026	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:10136026C>A	uc002raa.2	+	13	1690	c.1519C>A	c.(1519-1521)CCG>ACG	p.P507T	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.P318T|GRHL1_uc010yjb.1_Missense_Mutation_p.P356T	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	507					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GAAAAGGGGGCCGTACGGCAC	0.473												
GREB1	9687	broad.mit.edu	37	2	11780503	11780503	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:11780503C>T	uc002rbk.1	+	33	6073	c.5773C>T	c.(5773-5775)CGG>TGG	p.R1925W	GREB1_uc002rbp.1_Missense_Mutation_p.R923W	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1925						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTGGCAGTTCCGGCTGCGCGA	0.617												
MFSD2B	388931	broad.mit.edu	37	2	24247090	24247090	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:24247090C>A	uc002reo.1	+	13	1453	c.1439C>A	c.(1438-1440)TCC>TAC	p.S480Y		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	480					transport	integral to membrane				ovary(2)	2						ATGGTCGGCTCCACTCCAAAG	0.647												
ITSN2	50618	broad.mit.edu	37	2	24524945	24524945	+	Missense_Mutation	SNP	C	C	T	rs146161429	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:24524945C>T	uc002rfe.2	-	10	1142	c.884G>A	c.(883-885)GGA>GAA	p.G295E	ITSN2_uc002rff.2_Missense_Mutation_p.G295E|ITSN2_uc002rfg.2_Missense_Mutation_p.G295E|ITSN2_uc010eyd.2_Missense_Mutation_p.G320E	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	295	EH 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTAGCTGTCCATCACCATC	0.378												
ADCY3	109	broad.mit.edu	37	2	25042948	25042948	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:25042948G>A	uc002rfs.3	-	21	3487	c.3288C>T	c.(3286-3288)TAC>TAT	p.Y1096Y	ADCY3_uc002rfr.3_Silent_p.Y683Y|ADCY3_uc010ykm.1_Silent_p.Y1097Y	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	1096	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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCGGAAGCCGTACTCTCGGA	0.612												
ADCY3	109	broad.mit.edu	37	2	25061489	25061489	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:25061489C>T	uc002rfs.3	-	7	1557	c.1358G>A	c.(1357-1359)CGC>CAC	p.R453H	ADCY3_uc002rfr.3_Missense_Mutation_p.R86H|ADCY3_uc010ykm.1_Missense_Mutation_p.R453H	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	453	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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GATGTGCACGCGCCTGGATTG	0.642												
DNAJC27	51277	broad.mit.edu	37	2	25194767	25194767	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:25194767C>T	uc002rft.1	-	1	58	c.7G>A	c.(7-9)GCC>ACC	p.A3T	DNAJC27_uc010ykn.1_5'Flank|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Missense_Mutation_p.A3T|uc002rfv.2_5'Flank	NM_016544	NP_057628	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	3					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			skin(1)	1						GGCATGTTGGCCTCCATGGCC	0.662												
CAD	790	broad.mit.edu	37	2	27458503	27458503	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:27458503G>A	uc002rji.2	+	25	4231	c.4069G>A	c.(4069-4071)GTC>ATC	p.V1357I	CAD_uc010eyw.2_Missense_Mutation_p.V1294I	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1357	CPSase B.|CPSase (Carbamoyl-phosphate synthase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGAGCATGGCGTCAAGGTGCA	0.512												
PPM1G	5496	broad.mit.edu	37	2	27608664	27608664	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:27608664C>T	uc002rkl.2	-	5	466	c.359G>A	c.(358-360)CGA>CAA	p.R120Q	PPM1G_uc002rkm.2_5'UTR	NM_002707	NP_002698	O15355	PPM1G_HUMAN	protein phosphatase 1G	120					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					CTCAGTGGGTCGCCCTGCAAT	0.408												
CLIP4	79745	broad.mit.edu	37	2	29404624	29404624	+	Silent	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:29404624C>A	uc002rmv.2	+	16	2222	c.1983C>A	c.(1981-1983)GCC>GCA	p.A661A	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	661	CAP-Gly 3.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TCCGAAGCGCCAAGGGAAAAA	0.527												
EHD3	30845	broad.mit.edu	37	2	31489099	31489099	+	Silent	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:31489099G>T	uc002rnu.2	+	6	1745	c.1137G>T	c.(1135-1137)CTG>CTT	p.L379L	EHD3_uc010ymt.1_3'UTR	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	379					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					GCAAGCTGCTGGAGGTAGTGG	0.582												
XDH	7498	broad.mit.edu	37	2	31593290	31593290	+	Silent	SNP	G	G	A	rs142197675	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:31593290G>A	uc002rnv.1	-	18	1990	c.1911C>T	c.(1909-1911)TCC>TCT	p.S637S		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	637					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CATCATCAGCGGAAATGAAAC	0.418												
LTBP1	4052	broad.mit.edu	37	2	33572473	33572473	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:33572473A>G	uc002ros.2	+	26	3899	c.3899A>G	c.(3898-3900)GAA>GGA	p.E1300G	LTBP1_uc002rot.2_Missense_Mutation_p.E974G|LTBP1_uc002rou.2_Missense_Mutation_p.E973G|LTBP1_uc002rov.2_Missense_Mutation_p.E920G|LTBP1_uc010ymz.1_Missense_Mutation_p.E931G|LTBP1_uc010yna.1_Missense_Mutation_p.E878G|LTBP1_uc010ynb.1_Missense_Mutation_p.E197G	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1299	EGF-like 14; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTGTGTGGTGAAGCCTTCTGT	0.527												
SLC8A1	6546	broad.mit.edu	37	2	40656427	40656427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:40656427C>A	uc002rrx.2	-	1	1018	c.994G>T	c.(994-996)GAA>TAA	p.E332*	SLC8A1_uc002rry.2_Nonsense_Mutation_p.E332*|SLC8A1_uc002rrz.2_Nonsense_Mutation_p.E332*|SLC8A1_uc002rsa.2_Nonsense_Mutation_p.E332*|SLC8A1_uc002rsd.3_Nonsense_Mutation_p.E332*|SLC8A1_uc002rsb.1_Nonsense_Mutation_p.E332*|SLC8A1_uc010fan.1_Nonsense_Mutation_p.E332*|SLC8A1_uc002rsc.1_Nonsense_Mutation_p.E332*	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	332	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCTTAAGTTCCTTCAGAATC	0.398												
EFEMP1	2202	broad.mit.edu	37	2	56098186	56098186	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:56098186C>T	uc002rzh.2	-	9	1403	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H	EFEMP1_uc002rzi.2_Missense_Mutation_p.R358H|EFEMP1_uc002rzj.2_Missense_Mutation_p.R358H|EFEMP1_uc010ypc.1_Missense_Mutation_p.R220H	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	EGF-containing fibulin-like extracellular matrix	358	Mediates interaction with TIMP3.|EGF-like 6; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			ovary(4)|pancreas(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGATAACAACGGAAGCCGCC	0.393												
USP34	9736	broad.mit.edu	37	2	61433932	61433932	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:61433932C>T	uc002sbe.2	-	71	9031	c.9009G>A	c.(9007-9009)TCG>TCA	p.S3003S	USP34_uc002sbd.2_5'Flank	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3003					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ACTTCAAAACCGAAAGAAATA	0.373												
XPO1	7514	broad.mit.edu	37	2	61709583	61709583	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:61709583A>G	uc002sbj.2	-	23	3632	c.2904T>C	c.(2902-2904)GTT>GTC	p.V968V	XPO1_uc010fcl.2_Silent_p.V964V|XPO1_uc010ypn.1_Silent_p.V964V|XPO1_uc002sbk.2_Silent_p.V529V|XPO1_uc002sbg.2_Silent_p.V165V|XPO1_uc002sbh.2_Silent_p.V615V	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	968					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTTGGTTGTTAACTGGATTTC	0.328												
ARHGAP25	9938	broad.mit.edu	37	2	69049474	69049474	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:69049474A>G	uc002seu.2	+	10	1564	c.1200A>G	c.(1198-1200)ACA>ACG	p.T400T	ARHGAP25_uc010fdg.2_Silent_p.T401T|ARHGAP25_uc010yql.1_Silent_p.T361T|ARHGAP25_uc002sew.2_Silent_p.T393T|ARHGAP25_uc002sex.2_Silent_p.T394T|ARHGAP25_uc002sey.2_Silent_p.T127T	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	400					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						TTTTCTAGACAAGCGACTCTG	0.512												
AAK1	22848	broad.mit.edu	37	2	69732777	69732777	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:69732777T>C	uc002sfp.2	-	16	2698	c.2193A>G	c.(2191-2193)TCA>TCG	p.S731S	AAK1_uc010fdk.2_Silent_p.S731S|AAK1_uc010yqm.1_Silent_p.S732S	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	731						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0						AACTCTCAGCTGAGCCTCCAA	0.483												
ZNF638	27332	broad.mit.edu	37	2	71576635	71576635	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:71576635G>A	uc002shx.2	+	2	870	c.551G>A	c.(550-552)CGC>CAC	p.R184H	ZNF638_uc010fec.2_Missense_Mutation_p.R290H|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.R184H|ZNF638_uc002shy.2_Missense_Mutation_p.R184H|ZNF638_uc002shz.2_Missense_Mutation_p.R184H|ZNF638_uc002sia.2_Missense_Mutation_p.R184H|ZNF638_uc002sib.1_Missense_Mutation_p.R184H	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	184					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						AAAATGGGGCGCCGATTACCT	0.373												
FAM176A	84141	broad.mit.edu	37	2	75720679	75720679	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:75720679G>A	uc002sni.2	-	4	620	c.142C>T	c.(142-144)CTG>TTG	p.L48L	FAM176A_uc002snj.1_Silent_p.L35L|FAM176A_uc002snk.1_Silent_p.L48L	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN	family with sequence similarity 176, member A	48	Necessary for the localization and biological activity.|Helical; (Potential).				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane					0						GCCAGGGTCAGCACCAGCCCG	0.552												
LRRTM4	80059	broad.mit.edu	37	2	77746720	77746720	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:77746720A>C	uc002snr.2	-	3	690	c.275T>G	c.(274-276)CTT>CGT	p.L92R	LRRTM4_uc002snq.2_Missense_Mutation_p.L92R|LRRTM4_uc002sns.2_Missense_Mutation_p.L92R|LRRTM4_uc002snt.2_Missense_Mutation_p.L93R	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	92	LRR 2.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		ATTATGGTCAAGATAAAGCCA	0.388												
CTNNA2	1496	broad.mit.edu	37	2	80101447	80101447	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:80101447T>C	uc010ysh.1	+	5	836	c.831T>C	c.(829-831)GCT>GCC	p.A277A	CTNNA2_uc010yse.1_Silent_p.A277A|CTNNA2_uc010ysf.1_Silent_p.A277A|CTNNA2_uc010ysg.1_Silent_p.A277A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	277					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GCGAGCTGGCTGCGGCTCTTA	0.547												
USP39	10713	broad.mit.edu	37	2	85846392	85846392	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:85846392G>A	uc002sqe.2	+	2	354	c.318G>A	c.(316-318)CCG>CCA	p.P106P	USP39_uc002sqb.2_5'UTR|USP39_uc010ysu.1_Silent_p.P28P|USP39_uc010ysv.1_Silent_p.P28P|USP39_uc010fgn.1_Silent_p.P106P|USP39_uc002sqf.2_Silent_p.P106P|USP39_uc002sqg.2_Silent_p.P106P|USP39_uc010fgo.2_Silent_p.P106P	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	ubiquitin specific protease 39	106					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1						GCCACTGCCCGTACCTGGACA	0.473												
FER1L5	90342	broad.mit.edu	37	2	97370099	97370099	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:97370099G>A	uc010fia.2	+	51	6057	c.6057G>A	c.(6055-6057)CCG>CCA	p.P2019P	FER1L5_uc002sws.3_Silent_p.P728P|FER1L5_uc002swt.3_Silent_p.P728P|FER1L5_uc010yus.1_Silent_p.P727P	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	2019						integral to membrane				ovary(1)	1						ATTCAGCTCCGGTGAGTGGCA	0.483												
NCK2	8440	broad.mit.edu	37	2	106509597	106509597	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:106509597G>A	uc002tdg.2	+	5	1550	c.1108G>A	c.(1108-1110)GGG>AGG	p.G370R	NCK2_uc002tdh.2_3'UTR|NCK2_uc002tdi.2_Missense_Mutation_p.G370R	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	370	SH2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2						CAGCGAGCACGGGGAGAAGCT	0.672												
FOXD4L1	200350	broad.mit.edu	37	2	114257389	114257389	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:114257389G>A	uc002tjw.3	+	1	729	c.556G>A	c.(556-558)GCC>ACC	p.A186T		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	186	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						CCTGGACCCCGCCTCCCAGGA	0.652												
DPP10	57628	broad.mit.edu	37	2	116572537	116572537	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:116572537A>C	uc002tla.1	+	20	2326	c.1869A>C	c.(1867-1869)GAA>GAC	p.E623D	DPP10_uc002tlb.1_Missense_Mutation_p.E573D|DPP10_uc002tlc.1_Missense_Mutation_p.E619D|DPP10_uc002tle.2_Missense_Mutation_p.E627D|DPP10_uc002tlf.1_Missense_Mutation_p.E616D	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	623	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						GTTCAGTAGAAGTAAAGGACC	0.358												
SMPD4	55627	broad.mit.edu	37	2	130930247	130930247	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:130930247G>A	uc002tqq.1	-	7	1095	c.575C>T	c.(574-576)CCG>CTG	p.P192L	SMPD4_uc002tqp.1_5'UTR|SMPD4_uc010yzy.1_Intron|SMPD4_uc010yzz.1_Intron|SMPD4_uc002tqr.1_Missense_Mutation_p.P192L|SMPD4_uc002tqs.1_Missense_Mutation_p.P60L|SMPD4_uc002tqt.1_Missense_Mutation_p.P70L|SMPD4_uc010zaa.1_Missense_Mutation_p.P79L|SMPD4_uc010zab.1_Missense_Mutation_p.P119L|SMPD4_uc010zac.1_Intron|SMPD4_uc010zad.1_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	153					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	atactcGAACGGATCTGAGAG	0.473												
NCKAP5	344148	broad.mit.edu	37	2	133541594	133541594	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:133541594C>T	uc002ttp.2	-	14	3164	c.2790G>A	c.(2788-2790)CCG>CCA	p.P930P	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	930	Poly-Pro.						protein binding				0						CTGGAGGGGGCGGAGGGGAAG	0.622												
BAZ2B	29994	broad.mit.edu	37	2	160181327	160181327	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:160181327A>G	uc002uao.2	-	36	6700	c.6348T>C	c.(6346-6348)AGT>AGC	p.S2116S	BAZ2B_uc002uap.2_Silent_p.S2080S	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2116	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CTTACTGTCCACTACTTAGTT	0.199												
FAP	2191	broad.mit.edu	37	2	163099429	163099429	+	Missense_Mutation	SNP	C	C	T	rs145562225		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:163099429C>T	uc002ucd.2	-	2	288	c.80G>A	c.(79-81)CGC>CAC	p.R27H	FAP_uc010zct.1_Missense_Mutation_p.R27H|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.R27H	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	27	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3						TCTTGAAGGGCGTAAGACAAT	0.388												
XIRP2	129446	broad.mit.edu	37	2	168105457	168105457	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:168105457A>G	uc002udx.2	+	8	7573	c.7555A>G	c.(7555-7557)ATA>GTA	p.I2519V	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I2344V|XIRP2_uc010fpq.2_Missense_Mutation_p.I2297V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2344					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TGCGCCTCTTATAAAATCTCA	0.348												
LRP2	4036	broad.mit.edu	37	2	169996081	169996081	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:169996081C>T	uc002ues.2	-	73	13452	c.13239G>A	c.(13237-13239)GCG>GCA	p.A4413A		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4413	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTTTGAAAACGCCATTTCAC	0.398												
FASTKD1	79675	broad.mit.edu	37	2	170416906	170416906	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:170416906T>C	uc002uev.3	-	5	1350	c.962A>G	c.(961-963)GAA>GGA	p.E321G	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.E307G|FASTKD1_uc002uey.2_Missense_Mutation_p.E284G	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	321					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						CTGTTTCTTTTCTTCAGGTCC	0.383												
GORASP2	26003	broad.mit.edu	37	2	171822458	171822458	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:171822458G>A	uc002ugk.2	+	10	1317	c.1177G>A	c.(1177-1179)GCA>ACA	p.A393T	GORASP2_uc002ugj.2_Missense_Mutation_p.A325T|GORASP2_uc010zdl.1_Missense_Mutation_p.A405T|GORASP2_uc010zdm.1_Missense_Mutation_p.A349T|GORASP2_uc002ugl.2_Missense_Mutation_p.A325T|GORASP2_uc002ugm.2_Missense_Mutation_p.A175T	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	393						Golgi membrane				breast(1)|central_nervous_system(1)	2						CACCAGCAACGCACCCTCCGA	0.627												
CDCA7	83879	broad.mit.edu	37	2	174229545	174229545	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:174229545G>A	uc002uid.1	+	5	616	c.485G>A	c.(484-486)CGT>CAT	p.R162H	CDCA7_uc002uic.1_Missense_Mutation_p.R241H|CDCA7_uc010zej.1_Missense_Mutation_p.R197H|CDCA7_uc010zek.1_Missense_Mutation_p.R120H	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	162	Arg-rich.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CCGCGAAGGCGTACATTCCCG	0.498												
OSBPL6	114880	broad.mit.edu	37	2	179259111	179259111	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:179259111G>A	uc002ulx.2	+	24	3023	c.2645G>A	c.(2644-2646)CGG>CAG	p.R882Q	OSBPL6_uc002uly.2_Missense_Mutation_p.R907Q|OSBPL6_uc010zfe.1_Missense_Mutation_p.R851Q|OSBPL6_uc002ulz.2_Missense_Mutation_p.R846Q|OSBPL6_uc002uma.2_Missense_Mutation_p.R886Q	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	882					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CAGAGATCTCGGAGACGATAT	0.358												
TTN	7273	broad.mit.edu	37	2	179397429	179397429	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:179397429C>T	uc010zfg.1	-	307	96433	c.96209G>A	c.(96208-96210)CGT>CAT	p.R32070H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R25765H|TTN_uc010zfi.1_Missense_Mutation_p.R25698H|TTN_uc010zfj.1_Missense_Mutation_p.R25573H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32997							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)			AGAAGGTGTACGCCGGCGGGC	0.458												
TTN	7273	broad.mit.edu	37	2	179414715	179414715	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:179414715T>C	uc010zfg.1	-	286	84370	c.84146A>G	c.(84145-84147)CAA>CGA	p.Q28049R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q21744R|TTN_uc010zfi.1_Missense_Mutation_p.Q21677R|TTN_uc010zfj.1_Missense_Mutation_p.Q21552R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28976							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)			AAAAGTACCTTGTACTTTCAC	0.353												
TTN	7273	broad.mit.edu	37	2	179590652	179590652	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:179590652C>T	uc010zfg.1	-	67	16889	c.16665G>A	c.(16663-16665)CGG>CGA	p.R5555R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.R2216R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6482							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)			TTCTGAGTTGCCGCTTGTCTT	0.423												
ITGA4	3676	broad.mit.edu	37	2	182374394	182374394	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:182374394C>T	uc002unu.2	+	16	2468	c.1705C>T	c.(1705-1707)CGG>TGG	p.R569W	ITGA4_uc010frj.1_Missense_Mutation_p.R51W	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	569	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GAAAGATGTGCGGGACATCCT	0.398												
NCKAP1	10787	broad.mit.edu	37	2	183860434	183860434	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:183860434C>T	uc002upc.2	-	7	1138	c.736G>A	c.(736-738)GAC>AAC	p.D246N	NCKAP1_uc002upb.2_Missense_Mutation_p.D252N	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	246					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CATACAGTGTCGGACTGTGCT	0.368												
COL5A2	1290	broad.mit.edu	37	2	189927977	189927977	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:189927977C>T	uc002uqk.2	-	27	2065	c.1790G>A	c.(1789-1791)GGC>GAC	p.G597D	COL5A2_uc010frx.2_Missense_Mutation_p.G173D	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	597					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACCTGGACGGCCATCTTCCCC	0.507												
ANKRD44	91526	broad.mit.edu	37	2	197986194	197986194	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:197986194G>A	uc002uuc.2	-	8	935	c.768C>T	c.(766-768)AAC>AAT	p.N256N	ANKRD44_uc002utz.3_Translation_Start_Site|ANKRD44_uc002uua.1_Silent_p.N231N|ANKRD44_uc002uub.2_Silent_p.N256N|ANKRD44_uc010zgw.1_Silent_p.N184N	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	256	ANK 8.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAATCAACTCGTTAACCACAG	0.463												
RFTN2	130132	broad.mit.edu	37	2	198540105	198540105	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:198540105C>T	uc002uuo.3	-	1	480	c.78G>A	c.(76-78)CCG>CCA	p.P26P		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	26						plasma membrane					0						TTTCCACTTGCGGTCTCTTCA	0.373												
KCTD18	130535	broad.mit.edu	37	2	201371662	201371662	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:201371662C>T	uc002uvs.2	-	2	595	c.78G>A	c.(76-78)CGG>CGA	p.R26R	KCTD18_uc002uvt.2_Silent_p.R26R|KCTD18_uc002uvu.1_Silent_p.R26R	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain	26	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1						AGGACTCCCGCCGGGCTGTGT	0.502												
BMPR2	659	broad.mit.edu	37	2	203383560	203383560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:203383560C>T	uc002uzf.3	+	6	1785	c.637C>T	c.(637-639)CGA>TGA	p.R213*	BMPR2_uc010ftr.2_Nonsense_Mutation_p.R213*	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	213	ATP.|Protein kinase.|Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						TGGCCGAGGTCGATATGGAGC	0.343												
FAM117B	150864	broad.mit.edu	37	2	203622015	203622015	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:203622015A>C	uc010zhx.1	+	6	1194	c.1184A>C	c.(1183-1185)CAG>CCG	p.Q395P		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	395										ovary(1)	1						ATTGACACACAGACGCCTGGT	0.542												
CTLA4	1493	broad.mit.edu	37	2	204735367	204735367	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:204735367T>A	uc002vak.1	+	2	325	c.168T>A	c.(166-168)TTT>TTA	p.F56L	CTLA4_uc002val.1_Missense_Mutation_p.F56L|CTLA4_uc010fty.1_Missense_Mutation_p.F56L|CTLA4_uc010ftz.1_Intron	NM_005214	NP_005205	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	56	Ig-like V-type.|Extracellular (Potential).				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm					0					Abatacept(DB01281)	TCGCCAGCTTTGTGTGTGAGT	0.577												
PARD3B	117583	broad.mit.edu	37	2	206305302	206305302	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:206305302C>T	uc002var.1	+	20	3157	c.2950C>T	c.(2950-2952)CGG>TGG	p.R984W	PARD3B_uc002vao.1_Intron|PARD3B_uc002vap.1_Missense_Mutation_p.R922W|PARD3B_uc002vaq.1_Missense_Mutation_p.R915W	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	984					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGGTTACCCTCGGGATGGCCA	0.507												
MAP2	4133	broad.mit.edu	37	2	210560533	210560533	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:210560533G>A	uc002vde.1	+	7	3887	c.3639G>A	c.(3637-3639)ACG>ACA	p.T1213T	MAP2_uc002vdc.1_Silent_p.T1213T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.T1209T	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1213					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TATCCATCACGCCTTCTGATG	0.453												
MAP2	4133	broad.mit.edu	37	2	210574923	210574923	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:210574923T>A	uc002vde.1	+	12	5266	c.5018T>A	c.(5017-5019)GTC>GAC	p.V1673D	MAP2_uc002vdd.1_Missense_Mutation_p.V374D|MAP2_uc002vdf.1_Missense_Mutation_p.V317D|MAP2_uc002vdg.1_Missense_Mutation_p.V317D|MAP2_uc002vdh.1_Missense_Mutation_p.V374D|MAP2_uc002vdi.1_Missense_Mutation_p.V1669D	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1673	Tau/MAP 1.				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGAAGAATGTCAAATCCAAA	0.438												
RPE	6120	broad.mit.edu	37	2	210882238	210882238	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:210882238G>T	uc002vdn.2	+	5	524	c.519G>T	c.(517-519)GAG>GAT	p.E173D	RPE_uc002vdm.2_Missense_Mutation_p.E173D|RPE_uc002vdo.2_Missense_Mutation_p.E123D|RPE_uc010zjf.1_Intron|RPE_uc002vdp.2_Missense_Mutation_p.E120D|RPE_uc010fup.2_Missense_Mutation_p.E105D|RPE_uc002vdq.2_Missense_Mutation_p.E123D|RPE_uc002vdr.2_Missense_Mutation_p.E88D	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase isoform 1	173					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity				0				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		TGGATATAGAGGTCGATGGTG	0.403												
SPEG	10290	broad.mit.edu	37	2	220353375	220353375	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:220353375G>A	uc010fwg.2	+	33	8014	c.8014G>A	c.(8014-8016)GTG>ATG	p.V2672M		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2672	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTCCTGTACCGTGGCTGTGGC	0.672												
INHA	3623	broad.mit.edu	37	2	220439842	220439842	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:220439842G>A	uc002vmk.1	+	2	839	c.695G>A	c.(694-696)CGC>CAC	p.R232H		NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	232		Cleavage.		RR->EA: Loss of cleavage.	cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGAGCCCGACGCTCAACTCCC	0.672												
SLC4A3	6508	broad.mit.edu	37	2	220494917	220494917	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:220494917G>A	uc002vmp.3	+	6	923	c.654G>A	c.(652-654)GAG>GAA	p.E218E	SLC4A3_uc002vmn.2_Silent_p.E245E|SLC4A3_uc002vmo.3_Silent_p.E245E|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	218	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGCTGGGGAGAAAAGCCGGC	0.692												
CUL3	8452	broad.mit.edu	37	2	225376167	225376167	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:225376167C>T	uc002vny.2	-	6	1171	c.787G>A	c.(787-789)GTG>ATG	p.V263M	CUL3_uc010zls.1_Missense_Mutation_p.V197M|CUL3_uc010fwy.1_Missense_Mutation_p.V269M	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	263					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTTTCAACCACCTTTACAATT	0.358												
SP110	3431	broad.mit.edu	37	2	231042288	231042288	+	Missense_Mutation	SNP	C	C	T	rs140285393	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:231042288C>T	uc002vqh.3	-	14	1796	c.1556G>A	c.(1555-1557)CGT>CAT	p.R519H	SP110_uc002vqg.3_Missense_Mutation_p.R519H|SP110_uc002vqi.3_Missense_Mutation_p.R519H|SP110_uc010fxk.2_Missense_Mutation_p.R517H|SP110_uc010fxj.2_Missense_Mutation_p.R162H	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	519	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCCTTCACAACGTATATTCCG	0.423												
GIGYF2	26058	broad.mit.edu	37	2	233715062	233715062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:233715062C>T	uc002vti.3	+	30	4112	c.3775C>T	c.(3775-3777)CAG>TAG	p.Q1259*	GIGYF2_uc002vtj.3_Nonsense_Mutation_p.Q1280*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.Q1259*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.Q1253*|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc002vtq.3_Nonsense_Mutation_p.Q592*	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	1259					cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGAGGCTGTGCAGAGTGGCAA	0.468												
ANKMY1	51281	broad.mit.edu	37	2	241463633	241463633	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:241463633C>T	uc002vyz.1	-	7	1463	c.1234G>A	c.(1234-1236)GGC>AGC	p.G412S	ANKMY1_uc002vza.1_Missense_Mutation_p.G271S|ANKMY1_uc010fzd.1_Missense_Mutation_p.G501S|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.G271S|ANKMY1_uc002vzd.1_Missense_Mutation_p.G271S|ANKMY1_uc010fze.1_Missense_Mutation_p.G81S|ANKMY1_uc002vze.2_Missense_Mutation_p.G173S	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	412							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TGGAAGTGGCCGCCCTCGTGG	0.637												
PASK	23178	broad.mit.edu	37	2	242066674	242066674	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:242066674T>C	uc002wao.1	-	10	1748	c.1656A>G	c.(1654-1656)CCA>CCG	p.P552P	PASK_uc010zol.1_Silent_p.P366P|PASK_uc010zom.1_Silent_p.P517P|PASK_uc010fzl.1_Silent_p.P552P|PASK_uc010zon.1_Silent_p.P333P|PASK_uc002wap.2_Silent_p.P95P|PASK_uc002waq.2_Silent_p.P552P	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	552					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGCTGGGACTGGAGCTTCAG	0.577												
GAL3ST2	64090	broad.mit.edu	37	2	242741267	242741267	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:242741267G>A	uc002wcj.1	+	3	322	c.191G>A	c.(190-192)AGC>AAC	p.S64N		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	64	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		AAGACGGCCAGCAGCACGGTG	0.667												
C20orf54	113278	broad.mit.edu	37	20	744159	744159	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:744159G>A	uc002wed.3	-	3	1395	c.1056C>T	c.(1054-1056)TCC>TCT	p.S352S	C20orf54_uc002wee.2_Silent_p.S352S	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	hypothetical protein LOC113278 precursor	352	Helical; (Potential).				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity			ovary(2)	2						GCAGGAACATGGAGACCAACG	0.567												
SNPH	9751	broad.mit.edu	37	20	1285978	1285978	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:1285978G>A	uc002wes.2	+	6	1001	c.765G>A	c.(763-765)ACG>ACA	p.T255T	SNPH_uc002wet.2_Silent_p.T299T	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	255					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						TGAGCCGGACGGACGCGCTGG	0.682												
ADAM33	80332	broad.mit.edu	37	20	3653445	3653445	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:3653445C>T	uc002wit.2	-	12	1321	c.1234G>A	c.(1234-1236)GGA>AGA	p.G412R	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.G412R|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Missense_Mutation_p.G412R|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_3'UTR|ADAM33_uc010zqh.1_3'UTR	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	412	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						ACCGGGAGTCCGGGGTCCGGG	0.741												
MCM8	84515	broad.mit.edu	37	20	5974312	5974312	+	Missense_Mutation	SNP	C	C	T	rs147649536		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:5974312C>T	uc002wmi.2	+	18	2778	c.2401C>T	c.(2401-2403)CGG>TGG	p.R801W	MCM8_uc002wmj.2_Missense_Mutation_p.R785W|MCM8_uc002wmk.2_Missense_Mutation_p.R841W|MCM8_uc002wml.2_Missense_Mutation_p.R801W|MCM8_uc010gbp.2_Missense_Mutation_p.R754W|MCM8_uc002wmm.2_Missense_Mutation_p.R339W	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	801					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						TCATCAACTTCGGCAGATTGC	0.318												
CRLS1	54675	broad.mit.edu	37	20	6012658	6012658	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:6012658C>T	uc002wmn.3	+	5	815	c.661C>T	c.(661-663)CGA>TGA	p.R221*	CRLS1_uc010gbq.2_RNA|CRLS1_uc010gbr.2_Nonsense_Mutation_p.R122*	NM_019095	NP_061968	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1 isoform 1	221					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups				0						CCTCTGCCAGCGAACACTTGC	0.303												
RRBP1	6238	broad.mit.edu	37	20	17641004	17641004	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:17641004G>A	uc010zrq.1	-	3	503	c.149C>T	c.(148-150)GCG>GTG	p.A50V	RRBP1_uc002wpu.2_5'Flank|RRBP1_uc002wpv.1_Missense_Mutation_p.A50V|RRBP1_uc002wpw.1_Missense_Mutation_p.A50V|RRBP1_uc010gcl.1_Intron|RRBP1_uc010zrr.1_Missense_Mutation_p.A50V			Q9P2E9	RRBP1_HUMAN	SubName: Full=RRBP1 protein; Flags: Fragment;	50	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						GTGAGTTTTCGCCATCTCCTT	0.333												
CD93	22918	broad.mit.edu	37	20	23066077	23066077	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:23066077G>A	uc002wsv.2	-	1	901	c.753C>T	c.(751-753)GGC>GGT	p.G251G		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	251	Extracellular (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCCCGAGCTGCCCCAGTCGA	0.592												
GZF1	64412	broad.mit.edu	37	20	23350271	23350271	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:23350271A>G	uc010gdb.2	+	6	1852	c.1678A>G	c.(1678-1680)AAC>GAC	p.N560D	GZF1_uc002wsy.2_Missense_Mutation_p.N560D|GZF1_uc010zsq.1_Missense_Mutation_p.N84D|GZF1_uc010zsr.1_Missense_Mutation_p.N69D|GZF1_uc002wsz.2_Missense_Mutation_p.N560D	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	560	C2H2-type 9.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CACCCAGCTCAACGCCCTCCA	0.632												
NINL	22981	broad.mit.edu	37	20	25507059	25507059	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:25507059G>A	uc002wux.1	-	2	239	c.165C>T	c.(163-165)AAC>AAT	p.N55N	NINL_uc010gdn.1_Silent_p.N55N|NINL_uc010gdo.1_Translation_Start_Site|NINL_uc010ztf.1_Silent_p.N71N	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	55	EF-hand 2.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CGAAATGGTCGTTTCCGAGAA	0.532												
HM13	81502	broad.mit.edu	37	20	30132838	30132838	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:30132838G>T	uc002wwe.2	+	4	568	c.454G>T	c.(454-456)GAG>TAG	p.E152*	HM13_uc002wwc.2_Nonsense_Mutation_p.E152*|HM13_uc002wwd.2_Nonsense_Mutation_p.E152*|HM13_uc002wwf.2_5'Flank|HM13_uc010gdu.2_5'Flank|PSIMCT-1_uc010gdt.2_5'Flank	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	minor histocompatibility antigen 13 isoform 1	152	Cytoplasmic (Potential).				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)	1	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AAACAAGGAAGGTCAGTGCTA	0.453												
CBFA2T2	9139	broad.mit.edu	37	20	32232206	32232206	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:32232206C>T	uc002wzg.1	+	12	2106	c.1569C>T	c.(1567-1569)ATC>ATT	p.I523I	CBFA2T2_uc010zug.1_Silent_p.I297I|CBFA2T2_uc002wze.1_Silent_p.I514I|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.I494I|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Silent_p.I71I	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	523	MYND-type.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						GCTGCAATATCGCGCGATACT	0.612												
RALY	22913	broad.mit.edu	37	20	32663747	32663747	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:32663747C>T	uc002xab.2	+	6	743	c.445C>T	c.(445-447)CGG>TGG	p.R149W	RALY_uc002xac.2_Missense_Mutation_p.R133W|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.R149W	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	149						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1						GAAGCGACCCCGGGTCACAGT	0.627												
RALGAPB	57148	broad.mit.edu	37	20	37203485	37203485	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:37203485C>T	uc002xiw.2	+	30	4617	c.4360C>T	c.(4360-4362)CCC>TCC	p.P1454S	RALGAPB_uc002xix.2_Missense_Mutation_p.P1451S|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.P1233S	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1454					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						CTCCTACAGTCCCCCCCATGT	0.428												
PTPRT	11122	broad.mit.edu	37	20	40980779	40980779	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:40980779G>A	uc002xkg.2	-	10	1891	c.1707C>T	c.(1705-1707)AGC>AGT	p.S569S	PTPRT_uc010ggj.2_Silent_p.S569S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	569	Extracellular (Potential).|Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTTTGCTGTGCTGGCCTTGA	0.522												
C20orf111	51526	broad.mit.edu	37	20	42825844	42825844	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:42825844C>T	uc002xlk.2	-	4	864	c.727G>A	c.(727-729)GCC>ACC	p.A243T		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	oxidative stress responsive 1	243											0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AGAGTTCTGGCGTGCAGCGAC	0.522												
RBPJL	11317	broad.mit.edu	37	20	43938299	43938299	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:43938299A>C	uc002xns.2	+	3	296	c.224A>C	c.(223-225)AAG>ACG	p.K75T	MATN4_uc002xnn.2_5'Flank|MATN4_uc002xno.2_5'Flank|MATN4_uc002xnp.2_5'Flank|MATN4_uc002xnr.1_5'Flank|RBPJL_uc002xnt.2_Missense_Mutation_p.K75T	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	75					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CTGCATGCCAAGGTGGCCCAG	0.602												
ZNF334	55713	broad.mit.edu	37	20	45130815	45130815	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:45130815C>T	uc002xsc.2	-	5	1347	c.1163G>A	c.(1162-1164)TGT>TAT	p.C388Y	ZNF334_uc002xsa.2_Missense_Mutation_p.C411Y|ZNF334_uc002xsb.2_Missense_Mutation_p.C350Y|ZNF334_uc002xsd.2_Missense_Mutation_p.C350Y|ZNF334_uc010ghl.2_Missense_Mutation_p.C387Y	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	388	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				GGCTGACTGACAGAAGAAGGT	0.418												
ZNF334	55713	broad.mit.edu	37	20	45131154	45131154	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:45131154C>T	uc002xsc.2	-	5	1008	c.824G>A	c.(823-825)CGT>CAT	p.R275H	ZNF334_uc002xsa.2_Missense_Mutation_p.R298H|ZNF334_uc002xsb.2_Missense_Mutation_p.R237H|ZNF334_uc002xsd.2_Missense_Mutation_p.R237H|ZNF334_uc010ghl.2_Missense_Mutation_p.R274H	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	275	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				TGTCTTCACACGAAAAGTTTT	0.413												
MC3R	4159	broad.mit.edu	37	20	54824345	54824345	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:54824345C>T	uc002xxb.2	+	1	558	c.446C>T	c.(445-447)GCG>GTG	p.A149V		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	186	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			ATCTTTTACGCGCTCCGCTAC	0.582												
LAMA5	3911	broad.mit.edu	37	20	60890152	60890152	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:60890152C>A	uc002ycq.2	-	59	8046	c.7979G>T	c.(7978-7980)TGG>TTG	p.W2660L		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2660	Potential.|Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGCCCTGCCACCGCTCCAC	0.677												
DIDO1	11083	broad.mit.edu	37	20	61513091	61513091	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:61513091C>T	uc002ydr.1	-	16	4481	c.4217G>A	c.(4216-4218)CGG>CAG	p.R1406Q	DIDO1_uc002yds.1_Missense_Mutation_p.R1406Q	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1406					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTCGTGGCGCCGCCCTCGCTC	0.607												
PRIC285	85441	broad.mit.edu	37	20	62196357	62196357	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:62196357C>T	uc002yfm.2	-	9	4710	c.3818G>A	c.(3817-3819)CGG>CAG	p.R1273Q	PRIC285_uc002yfl.1_Missense_Mutation_p.R704Q	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1273					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GAAGCCTTGCCGCCACAGGAC	0.677												
C20orf135	140701	broad.mit.edu	37	20	62493649	62493649	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:62493649G>A	uc002ygx.1	+	1	1084	c.756G>A	c.(754-756)ACG>ACA	p.T252T	TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	252							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					GCGGCTTCACGGCCACCTGGG	0.672												
PCMTD2	55251	broad.mit.edu	37	20	62904787	62904787	+	Missense_Mutation	SNP	A	A	G	rs149434467	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:62904787A>G	uc002yil.3	+	6	1120	c.920A>G	c.(919-921)GAT>GGT	p.D307G	PCMTD2_uc002yim.3_Missense_Mutation_p.D280G	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	307						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AACCCCTCAGATGACAACAGC	0.522												
TMPRSS15	5651	broad.mit.edu	37	21	19666643	19666643	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:19666643G>A	uc002ykw.2	-	21	2461	c.2430C>T	c.(2428-2430)TGC>TGT	p.C810C		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	810	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						GAGATGCGCCGCAGAGCAGTC	0.567												
TMPRSS15	5651	broad.mit.edu	37	21	19737468	19737468	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:19737468C>T	uc002ykw.2	-	7	793	c.762G>A	c.(760-762)CAG>CAA	p.Q254Q		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	254	Extracellular (Potential).|CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						GTATGATCCACTGGCAGACAA	0.363												
NCAM2	4685	broad.mit.edu	37	21	22881276	22881276	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:22881276C>T	uc002yld.1	+	16	2431	c.2182C>T	c.(2182-2184)CAA>TAA	p.Q728*	NCAM2_uc011acb.1_Nonsense_Mutation_p.Q586*	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	728	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTTTATTCGGCAATGTGGGTT	0.468												
APP	351	broad.mit.edu	37	21	27327992	27327992	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:27327992G>A	uc002ylz.2	-	12	1736	c.1536C>T	c.(1534-1536)TTC>TTT	p.F512F	APP_uc011acg.1_Silent_p.F20F|APP_uc010glk.2_Silent_p.F488F|APP_uc002yma.2_Silent_p.F493F|APP_uc011ach.1_Silent_p.F456F|APP_uc002ymb.2_Silent_p.F437F|APP_uc010glj.2_Silent_p.F381F|APP_uc011aci.1_Silent_p.F402F	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	512	Heparin-binding.|Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				GCACATGCTCGAAATGCTTTA	0.493												
RWDD2B	10069	broad.mit.edu	37	21	30380391	30380391	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:30380391G>A	uc002yms.2	-	4	503	c.416C>T	c.(415-417)GCA>GTA	p.A139V	RWDD2B_uc002ymt.2_Missense_Mutation_p.A110V|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.A59V	NM_016940	NP_058636	P57060	RWD2B_HUMAN	RWD domain containing 2B	139	RWD.										0						TTGCAGGAATGCAGTCAGATC	0.393												
SON	6651	broad.mit.edu	37	21	34923165	34923165	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:34923165C>T	uc002yse.1	+	3	1677	c.1628C>T	c.(1627-1629)ACG>ATG	p.T543M	SON_uc002ysb.1_Missense_Mutation_p.T543M|SON_uc002ysc.2_Missense_Mutation_p.T543M|SON_uc002ysd.2_Translation_Start_Site|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	543					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						CCTGAGGCAACGATGGTGCTG	0.632												
DOPEY2	9980	broad.mit.edu	37	21	37617398	37617398	+	Silent	SNP	C	C	T	rs145948712		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:37617398C>T	uc002yvg.2	+	19	3199	c.3120C>T	c.(3118-3120)TGC>TGT	p.C1040C	DOPEY2_uc011aeb.1_Silent_p.C989C|DOPEY2_uc002yvh.2_5'UTR	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1040					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						GAGAGGCATGCGCAGTGCCCG	0.512												
HLCS	3141	broad.mit.edu	37	21	38269298	38269298	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:38269298G>T	uc010gnb.2	-	6	2514	c.1313C>A	c.(1312-1314)CCT>CAT	p.P438H	HLCS_uc002yvs.2_Missense_Mutation_p.P438H	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	438					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GGTCACCACAGGTATACAAGA	0.423												
DSCAM	1826	broad.mit.edu	37	21	41385265	41385265	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:41385265T>C	uc002yyq.1	-	33	6187	c.5735A>G	c.(5734-5736)AAC>AGC	p.N1912S	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1912	Cytoplasmic (Potential).			HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACCACCTCGGTTTAACAAAAA	0.517												
U2AF1	7307	broad.mit.edu	37	21	44515560	44515560	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:44515560G>A	uc002zda.1	-	5	420	c.336C>T	c.(334-336)AAC>AAT	p.N112N	U2AF1_uc002zcy.1_Silent_p.N39N|U2AF1_uc002zcz.1_Silent_p.N39N|U2AF1_uc002zdb.1_Silent_p.N112N|U2AF1_uc010gpi.1_Silent_p.N112N	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxillary factor 1 isoform	112	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding				0						TGACGTACACGTTCCCCACCA	0.587												
PWP2	5822	broad.mit.edu	37	21	45546795	45546795	+	Missense_Mutation	SNP	C	C	T	rs138442552		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:45546795C>T	uc002zeb.2	+	17	2179	c.2089C>T	c.(2089-2091)CGG>TGG	p.R697W		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	697						cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CATGAGTTCTCGGCACTTCAA	0.567												
ITGB2	3689	broad.mit.edu	37	21	46308785	46308785	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:46308785C>T	uc002zgd.2	-	13	1947	c.1903G>A	c.(1903-1905)GAA>AAA	p.E635K	ITGB2_uc002zge.2_Missense_Mutation_p.E635K|ITGB2_uc002zgf.3_Missense_Mutation_p.E635K|ITGB2_uc011afl.1_Missense_Mutation_p.E557K|ITGB2_uc010gpw.2_Missense_Mutation_p.E578K|ITGB2_uc002zgg.2_Missense_Mutation_p.E635K	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	635	Extracellular (Potential).				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGCCCTTTTCGAACTTCAGG	0.672												
GAB4	128954	broad.mit.edu	37	22	17488876	17488876	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:17488876G>A	uc002zlw.2	-	1	237	c.129C>T	c.(127-129)AGC>AGT	p.S43S	GAB4_uc010gqs.1_Silent_p.S43S	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	43	PH.									large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCAGCCAGCCGCTGTACAGCA	0.677												
IL17RA	23765	broad.mit.edu	37	22	17590340	17590340	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:17590340T>C	uc002zly.2	+	13	2364	c.2231T>C	c.(2230-2232)GTG>GCG	p.V744A	IL17RA_uc010gqt.2_Missense_Mutation_p.V692A	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	744	Cytoplasmic (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCAGAGGACGTGAGGGAGCAC	0.652												
PPIL2	23759	broad.mit.edu	37	22	22024875	22024875	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:22024875C>T	uc010gtj.1	+	3	219	c.103C>T	c.(103-105)CGT>TGT	p.R35C	PPIL2_uc002zvh.3_Missense_Mutation_p.R35C|PPIL2_uc002zvi.3_Missense_Mutation_p.R35C|PPIL2_uc002zvg.3_Missense_Mutation_p.R35C|PPIL2_uc011aij.1_Missense_Mutation_p.R35C	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	peptidylprolyl isomerase-like 2 isoform a	35					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			ovary(2)	2	Colorectal(54;0.105)					AACAAATTTTCGTCGTTTACC	0.368												
PRAME	23532	broad.mit.edu	37	22	22892556	22892556	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:22892556A>G	uc002zwf.2	-	4	701	c.545T>C	c.(544-546)TTC>TCC	p.F182S	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.F166S|PRAME_uc010gtr.2_Missense_Mutation_p.F182S|PRAME_uc002zwg.2_Missense_Mutation_p.F182S|PRAME_uc002zwh.2_Missense_Mutation_p.F182S|PRAME_uc002zwi.2_Missense_Mutation_p.F182S|PRAME_uc002zwj.2_Missense_Mutation_p.F182S|PRAME_uc002zwk.2_Missense_Mutation_p.F182S	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	182					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TTCCTTGAGGAACAGGTCTAC	0.473												
GGT1	2678	broad.mit.edu	37	22	25010758	25010758	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:25010758C>T	uc003aan.1	+	6	667	c.180C>T	c.(178-180)GAC>GAT	p.D60D	GGT1_uc003aas.1_Silent_p.D60D|GGT1_uc003aat.1_Silent_p.D60D|GGT1_uc003aau.1_Silent_p.D60D|GGT1_uc003aav.1_Silent_p.D60D|GGT1_uc003aaw.1_Silent_p.D60D|GGT1_uc003aax.1_Silent_p.D60D	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	60	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)	CACTGCGGGACGGTGGCTCTG	0.622												
MN1	4330	broad.mit.edu	37	22	28195359	28195359	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:28195359G>A	uc003adj.2	-	1	2128	c.1173C>T	c.(1171-1173)GGC>GGT	p.G391G		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	391							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						CCTGCAGGCCGCCGCTGGGCG	0.612			T	ETV6	AML|meningioma							
PES1	23481	broad.mit.edu	37	22	30977552	30977552	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:30977552C>T	uc003aij.1	-	7	784	c.710G>A	c.(709-711)CGC>CAC	p.R237H	PES1_uc003aik.1_Missense_Mutation_p.R237H|PES1_uc003ail.1_Missense_Mutation_p.R220H|PES1_uc003aim.1_Missense_Mutation_p.R237H|PES1_uc003ain.1_Missense_Mutation_p.R98H|PES1_uc003aio.1_Missense_Mutation_p.R98H	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	237	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						CTGGTAAAGGCGGAAGTTGAC	0.597												
INPP5J	27124	broad.mit.edu	37	22	31522407	31522407	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:31522407C>T	uc003aju.3	+	3	1409	c.1317C>T	c.(1315-1317)GAC>GAT	p.D439D	INPP5J_uc010gwf.2_Silent_p.D439D|INPP5J_uc003ajv.3_Silent_p.D72D|INPP5J_uc003ajs.3_Silent_p.D72D|INPP5J_uc011alk.1_Silent_p.D372D|INPP5J_uc010gwg.2_Silent_p.D4D|INPP5J_uc003ajw.2_Translation_Start_Site|INPP5J_uc003ajt.3_Silent_p.D71D|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	phosphatidylinositol (4,5) bisphosphate	439	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			skin(1)	1						TGCCCCCAGACGATGTCACAT	0.632												
DEPDC5	9681	broad.mit.edu	37	22	32210985	32210985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:32210985C>T	uc003als.2	+	21	1595	c.1453C>T	c.(1453-1455)CGA>TGA	p.R485*	DEPDC5_uc011als.1_Nonsense_Mutation_p.R485*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.R485*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.R485*|DEPDC5_uc003alr.1_Nonsense_Mutation_p.R485*|DEPDC5_uc011alt.1_Nonsense_Mutation_p.R457*	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	485					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CAGATCTGTGCGAGAGCGAGA	0.527												
HMGXB4	10042	broad.mit.edu	37	22	35660704	35660704	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:35660704C>T	uc003anl.2	+	5	497	c.323C>T	c.(322-324)ACA>ATA	p.T108I	HMGXB4_uc011amh.1_5'UTR|HMGXB4_uc003ank.2_5'UTR	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	high-mobility group protein 2-like 1	108					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|skin(1)	2						TCTACTGATACAGCTATGGAC	0.448												
APOL2	23780	broad.mit.edu	37	22	36624092	36624092	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:36624092G>A	uc003aoz.2	-	5	708	c.372C>T	c.(370-372)GGC>GGT	p.G124G	APOL2_uc011amm.1_Silent_p.G236G|APOL2_uc003apa.2_Silent_p.G124G	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	124					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding				0						CAGAGGTAGTGCCAACAGAGT	0.567												
ELFN2	114794	broad.mit.edu	37	22	37771205	37771205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:37771205G>A	uc003asq.3	-	3	1156	c.370C>T	c.(370-372)CGA>TGA	p.R124*		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	124	LRR 3.|Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					CTCATGCCTCGCAGCATGCCC	0.622												
KCNJ4	3761	broad.mit.edu	37	22	38823343	38823343	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:38823343G>A	uc003avs.1	-	2	892	c.795C>T	c.(793-795)ATC>ATT	p.I265I	KCNJ4_uc003avt.1_Silent_p.I265I	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	265	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					TGTCCTCGTCGATCTCGTGGA	0.617												
APOBEC3B	9582	broad.mit.edu	37	22	39388072	39388072	+	Missense_Mutation	SNP	G	G	A	rs1053813	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:39388072G>A	uc003awo.1	+	7	1106	c.1052G>A	c.(1051-1053)CGC>CAC	p.R351H	APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.R326H|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	351					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)					TTTGTGTACCGCCAGGGATGT	0.612												
ST13	6767	broad.mit.edu	37	22	41222545	41222545	+	Silent	SNP	C	C	T	rs12373984		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:41222545C>T	uc003aze.2	-	12	1250	c.1107G>A	c.(1105-1107)GCG>GCA	p.A369A	ST13_uc011aow.1_Silent_p.A359A	NM_003932	NP_003923	P50502	F10A1_HUMAN	heat shock 70kD protein binding protein	369							protein binding, bridging				0						AAGGACATTACGCTTGACCTC	0.413												
TOB2	10766	broad.mit.edu	37	22	41833202	41833202	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:41833202G>A	uc003azz.1	-	2	855	c.148C>T	c.(148-150)CTG>TTG	p.L50L		NM_016272	NP_057356	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	50					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				ovary(1)	1						GAGCCTTTCAGTGGCTTCTCA	0.602												
MCAT	27349	broad.mit.edu	37	22	43529111	43529111	+	Missense_Mutation	SNP	C	C	T	rs143026395		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:43529111C>T	uc003bdl.1	-	4	1160	c.1111G>A	c.(1111-1113)GCC>ACC	p.A371T	MCAT_uc003bdm.1_3'UTR	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	mitochondrial malonyltransferase isoform a	371					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			ovary(1)	1		Ovarian(80;0.0694)				ACATCCACGGCGCTGTAGGAC	0.612												
SCUBE1	80274	broad.mit.edu	37	22	43619155	43619155	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:43619155G>A	uc003bdt.1	-	11	1363	c.1275C>T	c.(1273-1275)GGC>GGT	p.G425G		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	425					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				TCTCCACACCGCCTGCCTTGC	0.627												
EFCAB6	64800	broad.mit.edu	37	22	44031028	44031028	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:44031028G>A	uc003bdy.1	-	18	2267	c.2052C>T	c.(2050-2052)TTC>TTT	p.F684F	EFCAB6_uc003bdz.1_Silent_p.F532F|EFCAB6_uc010gzi.1_Silent_p.F532F|EFCAB6_uc010gzj.1_Intron|EFCAB6_uc010gzk.1_Intron	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	684					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)				CTTCCTTCTCGAAGCCTATTT	0.537												
SAMM50	25813	broad.mit.edu	37	22	44368144	44368144	+	Silent	SNP	C	C	T	rs142640319		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:44368144C>T	uc003bej.2	+	5	548	c.351C>T	c.(349-351)GAC>GAT	p.D117D	SAMM50_uc011aqd.1_Intron|SAMM50_uc003bek.2_5'Flank	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	117					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ATGGGTTAGACGTTACCTTTG	0.363												
GRAMD4	23151	broad.mit.edu	37	22	47033823	47033823	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:47033823C>A	uc003bhx.2	+	2	288	c.249C>A	c.(247-249)CAC>CAA	p.H83Q	GRAMD4_uc010had.2_Missense_Mutation_p.H22Q	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	83	Potential.				apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TCAAAGGTCACCTGGAAATTG	0.502												
CRELD2	79174	broad.mit.edu	37	22	50318101	50318101	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:50318101C>T	uc003bja.2	+	8	1001	c.866C>T	c.(865-867)GCA>GTA	p.A289V	CRELD2_uc010haj.2_Missense_Mutation_p.A289V|CRELD2_uc010hal.2_Missense_Mutation_p.A338V|CRELD2_uc010hak.2_Missense_Mutation_p.A261V|CRELD2_uc010ham.2_Intron	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2 isoform b	289	FU 2.					endoplasmic reticulum|extracellular region	calcium ion binding				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GGACAGTGTGCAGGTCAGTGA	0.592												
TRABD	80305	broad.mit.edu	37	22	50635771	50635771	+	Silent	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:50635771C>A	uc003bjq.1	+	6	608	c.522C>A	c.(520-522)GCC>GCA	p.A174A	TRABD_uc003bjr.1_Silent_p.A58A|TRABD_uc003bjs.1_Silent_p.A174A|TRABD_uc003bjt.1_Silent_p.A174A|TRABD_uc003bju.1_Silent_p.A174A|TRABD_uc003bjv.2_Silent_p.A174A|TRABD_uc003bjw.1_Silent_p.A174A	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	TraB domain containing	174											0		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		TCAGGGAGGCCTTCAAGGAGG	0.652												
SBF1	6305	broad.mit.edu	37	22	50892961	50892961	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:50892961C>T	uc003blh.2	-	36	5218	c.5023G>A	c.(5023-5025)GCC>ACC	p.A1675T	SBF1_uc003ble.2_Missense_Mutation_p.A139T|SBF1_uc003blf.2_Missense_Mutation_p.A151T|SBF1_uc011arx.1_Missense_Mutation_p.A1313T	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1649					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGTGAGATGGCGTCAGGCTGG	0.672												
SHANK3	85358	broad.mit.edu	37	22	51160524	51160524	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:51160524G>A	uc003bne.1	+	22	4311	c.4311G>A	c.(4309-4311)CCG>CCA	p.P1437P	SHANK3_uc003bnf.1_Silent_p.P884P|SHANK3_uc010hbg.1_Silent_p.P619P	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1437										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TCAAGTCCCCGCTGGGGAAGG	0.652												
BRPF1	7862	broad.mit.edu	37	3	9781452	9781452	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:9781452C>T	uc003bse.2	+	3	1768	c.1369C>T	c.(1369-1371)CCT>TCT	p.P457S	BRPF1_uc003bsf.2_Missense_Mutation_p.P457S|BRPF1_uc003bsg.2_Missense_Mutation_p.P457S|BRPF1_uc011ati.1_Missense_Mutation_p.P457S	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	457					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					ACGCCGACTGCCTGCCCTGTC	0.507												
RAF1	5894	broad.mit.edu	37	3	12645699	12645699	+	Missense_Mutation	SNP	G	G	A	rs80338796		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:12645699G>A	uc003bxf.3	-	7	1185	c.770C>T	c.(769-771)TCG>TTG	p.S257L	RAF1_uc011aut.1_Missense_Mutation_p.S42L|RAF1_uc011auu.1_Missense_Mutation_p.S175L	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	257			S -> L (in NS5 and LEOPARD2; shows in vitro greater kinase activity and enhanced ERK activation than wild-type).		activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	TGTGGATGTCGACCTCTGCCT	0.527			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome			
TMEM40	55287	broad.mit.edu	37	3	12790209	12790209	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:12790209G>A	uc003bxg.1	-	3	283	c.156C>T	c.(154-156)TCC>TCT	p.S52S	TMEM40_uc003bxh.1_Silent_p.S52S|TMEM40_uc003bxi.1_Intron|TMEM40_uc011auv.1_Silent_p.S68S	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	52	Ser-rich.					integral to membrane					0						aggaggaggaggaagaagaCT	0.259												
EFHB	151651	broad.mit.edu	37	3	19975208	19975208	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:19975208T>G	uc003cbl.3	-	1	499	c.303A>C	c.(301-303)AAA>AAC	p.K101N	EFHB_uc003cbm.2_Intron	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	101					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						ACAGAGAAGGTTTTGTTCCCT	0.463												
RBMS3	27303	broad.mit.edu	37	3	29925682	29925682	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:29925682A>G	uc003cel.2	+	8	1004	c.774A>G	c.(772-774)ACA>ACG	p.T258T	RBMS3_uc003cek.2_Silent_p.T258T|RBMS3_uc010hfq.2_Silent_p.T271T|RBMS3_uc003cem.2_Silent_p.T257T|RBMS3_uc010hfr.2_Silent_p.T258T	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	258						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				ATGACCCCACAGCTGCCATAC	0.353												
SLC22A14	9389	broad.mit.edu	37	3	38357085	38357085	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:38357085C>T	uc010hhc.1	+	9	1457	c.1415C>T	c.(1414-1416)CCG>CTG	p.P472L	SLC22A14_uc003cib.2_Missense_Mutation_p.P472L|SLC22A14_uc011ayo.1_RNA	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	organic cation transporter like 4	472	Extracellular (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCACGTTGTCCGGCCACAGAG	0.582												
EXOSC7	23016	broad.mit.edu	37	3	45038709	45038709	+	Missense_Mutation	SNP	C	C	T	rs150001306		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:45038709C>T	uc003coi.2	+	4	414	c.385C>T	c.(385-387)CGG>TGG	p.R129W	EXOSC7_uc003coh.1_Missense_Mutation_p.R64W|EXOSC7_uc011bae.1_Missense_Mutation_p.R129W|EXOSC7_uc010his.1_Missense_Mutation_p.R48W|EXOSC7_uc003coj.2_Missense_Mutation_p.R129W	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	exosome component 7	129					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		CATTAGTCCTCGGGAGCACTG	0.468												
SACM1L	22908	broad.mit.edu	37	3	45780148	45780148	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:45780148C>T	uc003cos.2	+	17	1665	c.1461C>T	c.(1459-1461)TCC>TCT	p.S487S	SACM1L_uc011bag.1_Silent_p.S384S|SACM1L_uc011bah.1_Silent_p.S421S|SACM1L_uc003cot.2_Silent_p.S130S	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	suppressor of actin 1	487						Golgi apparatus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		ACAACTTTTCCGATGGATTTA	0.343												
CCR2	729230	broad.mit.edu	37	3	46399158	46399158	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:46399158C>T	uc003cpn.3	+	2	625	c.140C>T	c.(139-141)CCG>CTG	p.P47L	CCR2_uc003cpm.3_Missense_Mutation_p.P47L	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2 isoform A	47	Helical; Name=1; (Potential).				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			lung(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CTCCTGCCTCCGCTCTACTCG	0.458												
CCR5	1234	broad.mit.edu	37	3	46415343	46415343	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:46415343C>T	uc003cpo.3	+	3	1072	c.950C>T	c.(949-951)GCC>GTC	p.A317V	CCR5_uc010hjd.2_Missense_Mutation_p.A317V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	317	Cytoplasmic (Potential).				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	AAGCACATTGCCAAACGCTTC	0.493												
COL7A1	1294	broad.mit.edu	37	3	48622168	48622168	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:48622168G>A	uc003ctz.2	-	34	4047	c.4046C>T	c.(4045-4047)CCG>CTG	p.P1349L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1349	Triple-helical region.|Interrupted collagenous region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCACCTACCGGCTCCCCCTT	0.647												
CELSR3	1951	broad.mit.edu	37	3	48677486	48677486	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:48677486G>A	uc003cul.2	-	34	9813	c.9532C>T	c.(9532-9534)CGG>TGG	p.R3178W	CELSR3_uc003cuf.1_Missense_Mutation_p.R3276W|CELSR3_uc010hkf.2_Missense_Mutation_p.R468W|CELSR3_uc010hkg.2_Missense_Mutation_p.R1161W	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	3178	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGAGTTGCCGCTGGGGAGAC	0.682												
DALRD3	55152	broad.mit.edu	37	3	49053239	49053239	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:49053239C>A	uc003cvk.1	-	11	1530	c.1510G>T	c.(1510-1512)GGG>TGG	p.G504W	WDR6_uc003cvj.2_3'UTR|WDR6_uc011bby.1_3'UTR|WDR6_uc010hkn.2_3'UTR|WDR6_uc011bbz.1_3'UTR|DALRD3_uc003cvl.1_Missense_Mutation_p.G495V|DALRD3_uc003cvm.1_Missense_Mutation_p.G337W|DALRD3_uc010hko.1_Intron	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	504					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGCTCACCCCCAGGATGTGT	0.522												
KLHDC8B	200942	broad.mit.edu	37	3	49212303	49212303	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:49212303G>A	uc003cwh.2	+	4	855	c.670G>A	c.(670-672)GTC>ATC	p.V224I	KLHDC8B_uc003cwi.1_Missense_Mutation_p.V97I	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	224	Kelch 6.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAAGGCAGCGTCTTTAGCCT	0.592												
MST1R	4486	broad.mit.edu	37	3	49940022	49940022	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:49940022C>T	uc003cxy.3	-	1	1285	c.1021G>A	c.(1021-1023)GAG>AAG	p.E341K	MST1R_uc011bdd.1_Missense_Mutation_p.E341K|MST1R_uc011bde.1_Missense_Mutation_p.E341K|MST1R_uc011bdf.1_Missense_Mutation_p.E341K|MST1R_uc011bdg.1_Missense_Mutation_p.E341K	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	341	Extracellular (Potential).|Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCCTGGCCCTCGGCGATGCTC	0.652												
RRP9	9136	broad.mit.edu	37	3	51968519	51968519	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:51968519C>T	uc003dbw.1	-	13	1268	c.1229G>A	c.(1228-1230)CGG>CAG	p.R410Q		NM_004704	NP_004695	O43818	U3IP2_HUMAN	RNA, U3 small nucleolar interacting protein 2	410	WD 6.				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		GTCAAGCTGCCGGAAGCCTTC	0.622												
CACNA1D	776	broad.mit.edu	37	3	53531422	53531422	+	Missense_Mutation	SNP	G	G	A	rs144915770		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:53531422G>A	uc003dgv.3	+	2	474	c.311G>A	c.(310-312)CGC>CAC	p.R104H	CACNA1D_uc003dgu.3_Missense_Mutation_p.R104H|CACNA1D_uc003dgy.3_Missense_Mutation_p.R104H	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	104	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CGACCTGCCCGCGCCCTTTTC	0.478												
CHDH	55349	broad.mit.edu	37	3	53854543	53854543	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:53854543G>A	uc003dgz.2	-	6	1518	c.1078C>T	c.(1078-1080)CGG>TGG	p.R360W		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	360					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CAGACCTTCCGCAGGGGCTTC	0.552												
PDHB	5162	broad.mit.edu	37	3	58417706	58417706	+	Silent	SNP	T	T	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:58417706T>A	uc003dkf.3	-	3	131	c.102A>T	c.(100-102)ACA>ACT	p.T34T	PDHB_uc003dke.3_5'UTR|PDHB_uc003dkg.3_Silent_p.T16T|PDHB_uc010hnl.2_Silent_p.T16T|PDHB_uc011bff.1_Silent_p.T34T	NM_000925	NP_000916	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	34					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	CATCACGAACTGTCACCTGTC	0.418												
FAM3D	131177	broad.mit.edu	37	3	58639469	58639469	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:58639469G>A	uc003dkq.2	-	3	350	c.53C>T	c.(52-54)ACG>ATG	p.T18M		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	18					negative regulation of insulin secretion	extracellular region	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CATCCATGTCGTGACTATGGC	0.567												
MAGI1	9223	broad.mit.edu	37	3	65342220	65342220	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:65342220C>T	uc003dmn.2	-	23	4748	c.4222G>A	c.(4222-4224)GAG>AAG	p.E1408K	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1437					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCCTGCGCTCGGGGGAGCGT	0.667												
NIT2	56954	broad.mit.edu	37	3	100065064	100065064	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:100065064G>A	uc003dtv.2	+	6	544	c.470G>A	c.(469-471)CGG>CAG	p.R157Q	NIT2_uc011bha.1_Missense_Mutation_p.G126S	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	157	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			ovary(1)	1						TACGACATGCGGTTTGCAGAG	0.493												
KTELC1	56983	broad.mit.edu	37	3	119209485	119209485	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:119209485T>C	uc003ecm.2	+	9	969	c.885T>C	c.(883-885)GAT>GAC	p.D295D	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Silent_p.D136D	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	295						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		ATGTTGGTGATGAGTGGCTAG	0.443												
ILDR1	286676	broad.mit.edu	37	3	121720675	121720675	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:121720675T>C	uc003ees.2	-	4	522	c.416A>G	c.(415-417)GAC>GGC	p.D139G	ILDR1_uc003eeq.2_Missense_Mutation_p.D151G|ILDR1_uc003eer.2_Missense_Mutation_p.D139G|ILDR1_uc010hrg.2_Intron	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor	139	Extracellular (Potential).|Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			skin(1)	1				GBM - Glioblastoma multiforme(114;0.156)		CACTCCATGGTCCCACCACAT	0.502												
ADCY5	111	broad.mit.edu	37	3	123021992	123021992	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:123021992C>T	uc003egh.1	-	14	2634	c.2634G>A	c.(2632-2634)GCG>GCA	p.A878A	ADCY5_uc003egg.1_Silent_p.A511A|ADCY5_uc003egi.1_Silent_p.A437A	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	878	Extracellular (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		CCACGTGACACGCGTTGACCT	0.642												
MYLK	4638	broad.mit.edu	37	3	123419658	123419658	+	Missense_Mutation	SNP	G	G	A	rs140989388		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:123419658G>A	uc003ego.2	-	18	2939	c.2657C>T	c.(2656-2658)GCG>GTG	p.A886V	MYLK_uc011bjw.1_Missense_Mutation_p.A886V|MYLK_uc003egp.2_Missense_Mutation_p.A817V|MYLK_uc003egq.2_Missense_Mutation_p.A886V|MYLK_uc003egr.2_Missense_Mutation_p.A817V|MYLK_uc003egs.2_Missense_Mutation_p.A710V|MYLK_uc003egt.2_Missense_Mutation_p.A77V	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	886	5 X 28 AA approximate tandem repeats.|1-1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGGCGGATCGCCTCCTCAGT	0.622												
SEC61A1	29927	broad.mit.edu	37	3	127779411	127779411	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:127779411C>A	uc003ekb.2	+	7	707	c.523C>A	c.(523-525)CTT>ATT	p.L175I	SEC61A1_uc003ekc.2_Missense_Mutation_p.L122I|SEC61A1_uc003ekd.2_Missense_Mutation_p.L55I	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	175	Helical; (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						AGGATATGGCCTTGGCTCTGG	0.428												
CPNE4	131034	broad.mit.edu	37	3	131293941	131293941	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:131293941T>C	uc003eok.2	-	10	1336	c.901A>G	c.(901-903)ATG>GTG	p.M301V	CPNE4_uc011blq.1_Missense_Mutation_p.M319V|CPNE4_uc003eol.2_Missense_Mutation_p.M319V|CPNE4_uc003eom.2_Missense_Mutation_p.M301V	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	301										upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CAGCCACCCATGATGTAGTCC	0.438												
SLCO2A1	6578	broad.mit.edu	37	3	133661493	133661493	+	Silent	SNP	C	C	T	rs145832999	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:133661493C>T	uc003eqa.3	-	11	1855	c.1581G>A	c.(1579-1581)CTG>CTA	p.L527L	SLCO2A1_uc003eqb.3_Silent_p.L451L|SLCO2A1_uc011blv.1_Silent_p.L346L	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	527	Helical; Name=10; (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						TGCAGGCTATCAGGGACACGA	0.602												
GRK7	131890	broad.mit.edu	37	3	141497441	141497441	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:141497441G>A	uc011bnd.1	+	1	399	c.315G>A	c.(313-315)GCG>GCA	p.A105A		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	105	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						AAGACAGCGCGCTGCAGGGGC	0.667												
PLSCR4	57088	broad.mit.edu	37	3	145917640	145917640	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:145917640C>T	uc010huy.2	-	6	913	c.584G>A	c.(583-585)TGC>TAC	p.C195Y	PLSCR4_uc010huz.2_Missense_Mutation_p.C195Y|PLSCR4_uc003evt.3_Missense_Mutation_p.C195Y|PLSCR4_uc010hva.2_Intron|PLSCR4_uc003evu.3_Intron	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4 isoform a	195	Cys-rich.|Cytoplasmic (By similarity).				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0						ACAGCAGGTGCATCTGAAGGG	0.507												
ZIC1	7545	broad.mit.edu	37	3	147128485	147128485	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:147128485G>A	uc003ewe.2	+	1	1305	c.586G>A	c.(586-588)GGC>AGC	p.G196S		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	196					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCAGCTGCACGGCTACGGGCC	0.652												
FAM194A	131831	broad.mit.edu	37	3	150398595	150398595	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:150398595G>A	uc003eyg.2	-	8	1062	c.1005C>T	c.(1003-1005)GTC>GTT	p.V335V	FAM194A_uc003eyh.2_Silent_p.V189V	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	335										skin(2)|ovary(1)	3						TGAGTCTGTCGACCTCACTAC	0.413												
IGSF10	285313	broad.mit.edu	37	3	151174864	151174864	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:151174864C>A	uc011bod.1	-	2	274	c.274G>T	c.(274-276)GGC>TGC	p.G92C		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	92	LRR 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGTGAATGCCATTGCTGTGA	0.453												
ARPM1	84517	broad.mit.edu	37	3	169485486	169485486	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:169485486C>A	uc003ffs.1	-	2	1228	c.853G>T	c.(853-855)GGC>TGC	p.G285C	TERC_uc003ffr.1_5'Flank	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	actin related protein M1	285						cytoplasm|cytoskeleton					0	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TTCCTCAGGCCTGTATCACAT	0.458												
PLD1	5337	broad.mit.edu	37	3	171392296	171392296	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:171392296G>A	uc003fhs.2	-	19	2339	c.2223C>T	c.(2221-2223)AAC>AAT	p.N741N	PLD1_uc003fht.2_Silent_p.N703N|PLD1_uc003fhu.3_Silent_p.N35N|PLD1_uc003fhv.1_Silent_p.N66N	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	741	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTACCTGTACGTTAGCATGGA	0.388												
PIK3CA	5290	broad.mit.edu	37	3	178952084	178952084	+	Missense_Mutation	SNP	C	C	T	rs121913281		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:178952084C>T	uc003fjk.2	+	21	3296	c.3139C>T	c.(3139-3141)CAT>TAT	p.H1047Y		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1247)|p.H1047L(145)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAATGATGCACATCATGGTGG	0.373	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
FAM131A	131408	broad.mit.edu	37	3	184059734	184059734	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:184059734G>A	uc003fog.2	+	1	1477	c.113G>A	c.(112-114)AGC>AAC	p.S38N	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Intron|FAM131A_uc003foe.2_Intron	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	38						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGAATCTCAGCCCCTTCTCC	0.547												
HRG	3273	broad.mit.edu	37	3	186390618	186390618	+	Missense_Mutation	SNP	C	C	T	rs140916341		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:186390618C>T	uc003fqq.2	+	5	624	c.601C>T	c.(601-603)CGG>TGG	p.R201W		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	201	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTTCTCTGTGCGGAACTGCCC	0.403												
BCL6	604	broad.mit.edu	37	3	187444578	187444578	+	Missense_Mutation	SNP	C	C	T	rs147650939		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:187444578C>T	uc003frp.3	-	7	2106	c.1649G>A	c.(1648-1650)CGC>CAC	p.R550H	BCL6_uc011bsf.1_Intron|BCL6_uc010hza.2_Missense_Mutation_p.R448H|BCL6_uc003frq.1_Missense_Mutation_p.R550H	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	550	C2H2-type 2.				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGCCTGGCAGCGGTCACACTT	0.587			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL							
TCTEX1D2	255758	broad.mit.edu	37	3	196043062	196043062	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:196043062G>A	uc003fwi.2	-	2	290	c.154C>T	c.(154-156)CTC>TTC	p.L52F	TM4SF19_uc003fwj.2_RNA|uc003fwk.1_5'Flank	NM_152773	NP_689986	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	52							protein binding			ovary(1)|breast(1)	2	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TCCTCCTTGAGCACAGCATGG	0.403												
DGKQ	1609	broad.mit.edu	37	4	959075	959075	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:959075C>T	uc003gbw.2	-	15	1697	c.1623G>A	c.(1621-1623)GCG>GCA	p.A541A	DGKQ_uc010ibn.2_Silent_p.A528A	NM_001347	NP_001338	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta	541					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCAACACTACCGCGCCTGCGG	0.682												
EVC2	132884	broad.mit.edu	37	4	5578094	5578094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:5578094G>A	uc003gij.2	-	18	3199	c.3145C>T	c.(3145-3147)CAG>TAG	p.Q1049*	EVC2_uc011bwb.1_Nonsense_Mutation_p.Q489*|EVC2_uc003gik.2_Nonsense_Mutation_p.Q969*	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1049	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						GCCACCCACTGCTGCCAGCTC	0.627												
WFS1	7466	broad.mit.edu	37	4	6302887	6302887	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:6302887G>A	uc003giy.2	+	8	1531	c.1365G>A	c.(1363-1365)ACG>ACA	p.T455T	WFS1_uc003gix.2_Silent_p.T455T|WFS1_uc003giz.2_Silent_p.T273T	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	455					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		AGCCCTACACGCGCAGGGCCC	0.637												
PPP2R2C	5522	broad.mit.edu	37	4	6325119	6325119	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:6325119C>T	uc003gjc.2	-	9	1624	c.1254G>A	c.(1252-1254)ACG>ACA	p.T418T	PPP2R2C_uc003gjb.2_Silent_p.T401T|PPP2R2C_uc011bwd.1_Silent_p.T411T|PPP2R2C_uc011bwe.1_Silent_p.T411T|PPP2R2C_uc003gja.2_Silent_p.T418T	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	418	WD 7.				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						GGTGCCAGGCCGTGTGCAGGA	0.587												
ZNF518B	85460	broad.mit.edu	37	4	10447064	10447064	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:10447064G>T	uc003gmn.2	-	3	1376	c.889C>A	c.(889-891)CTG>ATG	p.L297M		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						GGCTCAGACAGGGTCATTTTA	0.373												
ZNF518B	85460	broad.mit.edu	37	4	10447911	10447911	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:10447911G>A	uc003gmn.2	-	3	529	c.42C>T	c.(40-42)AAC>AAT	p.N14N		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						TATGTCCGCCGTTCAAGTGTG	0.403												
GPR125	166647	broad.mit.edu	37	4	22390560	22390560	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:22390560C>T	uc003gqm.1	-	19	2999	c.2734G>A	c.(2734-2736)GCA>ACA	p.A912T	GPR125_uc010ieo.1_Missense_Mutation_p.A768T|GPR125_uc003gql.1_Missense_Mutation_p.A39T	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	912	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				GGTTCCCATGCCATCCAGCAA	0.403												
TLR10	81793	broad.mit.edu	37	4	38777063	38777063	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:38777063G>A	uc003gti.2	-	2	528	c.149C>T	c.(148-150)ACA>ATA	p.T50I	TLR10_uc003gtj.2_Missense_Mutation_p.T50I|TLR10_uc003gtk.2_Missense_Mutation_p.T50I	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	50	Extracellular (Potential).|LRR 2.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						CAGTGTCGTTGTGGCTGGGGT	0.458												
LRRC66	339977	broad.mit.edu	37	4	52861526	52861526	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:52861526G>A	uc003gzi.2	-	4	1675	c.1662C>T	c.(1660-1662)GGC>GGT	p.G554G		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	554						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						CAGAAGAGACGCCCACTGAAT	0.512												
KDR	3791	broad.mit.edu	37	4	55964877	55964877	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:55964877C>T	uc003has.2	-	16	2662	c.2360G>A	c.(2359-2361)CGG>CAG	p.R787Q	KDR_uc003hat.1_Missense_Mutation_p.R787Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	787	Helical; (Potential).			R -> G (in Ref. 4; AAA59459/CAA43837).	angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTAACGGTCCGTAGGATGAT	0.433			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)		
YTHDC1	91746	broad.mit.edu	37	4	69184427	69184427	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:69184427C>T	uc003hdx.2	-	14	2095	c.1742G>A	c.(1741-1743)CGA>CAA	p.R581Q	YTHDC1_uc003hdy.2_Missense_Mutation_p.R563Q	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	581	Arg-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						AAACACATCTCGGCGAACTCC	0.308												
PPBP	5473	broad.mit.edu	37	4	74853698	74853698	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:74853698A>G	uc003hhj.2	-	1	203	c.123T>C	c.(121-123)ACT>ACC	p.T41T		NM_002704	NP_002695	P02775	CXCL7_HUMAN	pro-platelet basic protein precursor	41					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			AGTTTCTCTTAGTTTGTCCTT	0.532												
PTPN13	5783	broad.mit.edu	37	4	87622904	87622904	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:87622904G>A	uc003hpz.2	+	7	1625	c.1145G>A	c.(1144-1146)CGA>CAA	p.R382Q	PTPN13_uc003hpy.2_Missense_Mutation_p.R382Q|PTPN13_uc003hqa.2_Missense_Mutation_p.R382Q|PTPN13_uc003hqb.2_Missense_Mutation_p.R382Q	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	382						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GACCGAATCCGAGAGAGACAA	0.393												
ADH1A	124	broad.mit.edu	37	4	100205900	100205900	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:100205900G>A	uc003hur.1	-	4	391	c.320C>T	c.(319-321)CCG>CTG	p.P107L	uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.P107L|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.1_Missense_Mutation_p.P107L	NM_000667	NP_000658	P07327	ADH1A_HUMAN	class I alcohol dehydrogenase, alpha subunit	107					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GTTGCTCTCCGGGTTTTTACA	0.418												
TACR3	6870	broad.mit.edu	37	4	104640560	104640560	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:104640560C>T	uc003hxe.1	-	1	416	c.273G>A	c.(271-273)GCG>GCA	p.A91A		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	91	Helical; Name=1; (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCACACCATACGCCAGGGACC	0.617												
ANK2	287	broad.mit.edu	37	4	114277438	114277438	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:114277438C>T	uc003ibe.3	+	38	7764	c.7664C>T	c.(7663-7665)ACA>ATA	p.T2555I	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.T2570I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2522					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCAAAACCACAGATGTAAGT	0.493												
HSPA4L	22824	broad.mit.edu	37	4	128724950	128724950	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:128724950T>C	uc003ifm.2	+	7	1083	c.830T>C	c.(829-831)ATG>ACG	p.M277T	HSPA4L_uc010iny.1_Missense_Mutation_p.M236T|HSPA4L_uc011cgr.1_Missense_Mutation_p.M244T	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	277					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						AAGAAGCTAATGAGTGCAAAT	0.343												
PCDH10	57575	broad.mit.edu	37	4	134084187	134084187	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:134084187T>A	uc003iha.2	+	4	3679	c.2853T>A	c.(2851-2853)GAT>GAA	p.D951E		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	951	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCACTCAGATCGGTGCTGGA	0.488												
PCDH18	54510	broad.mit.edu	37	4	138450912	138450912	+	Silent	SNP	C	C	T	rs140521915		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:138450912C>T	uc003ihe.3	-	1	2718	c.2331G>A	c.(2329-2331)TCG>TCA	p.S777S	PCDH18_uc003ihf.3_Silent_p.S770S|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.S557S|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	777	Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					AAGATGGAGACGATCTGTGAT	0.502												
ABCE1	6059	broad.mit.edu	37	4	146044706	146044706	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:146044706G>A	uc003ijx.2	+	16	2034	c.1594G>A	c.(1594-1596)GTC>ATC	p.V532I	ABCE1_uc003ijy.2_Missense_Mutation_p.V532I|ABCE1_uc010iot.2_RNA	NM_001040876	NP_001035809	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E, member 1	532	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			skin(1)	1	all_hematologic(180;0.151)					AGCGGATCGCGTCATCGTTTT	0.338												
ARHGAP10	79658	broad.mit.edu	37	4	148827846	148827846	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:148827846G>A	uc003ilf.2	+	11	1092	c.1092G>A	c.(1090-1092)TTG>TTA	p.L364L	ARHGAP10_uc003ilg.2_Silent_p.L13L	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	364	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			skin(2)|pancreas(1)|lung(1)	4	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AGCAGTGGTTGGAAGCTCTGG	0.418												
LRBA	987	broad.mit.edu	37	4	151199013	151199013	+	Silent	SNP	G	G	A	rs76608264	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:151199013G>A	uc010ipj.2	-	57	8967	c.8493C>T	c.(8491-8493)TAC>TAT	p.Y2831Y	LRBA_uc010ipi.2_Silent_p.Y353Y|LRBA_uc003ils.3_Silent_p.Y726Y|LRBA_uc003ilt.3_Silent_p.Y1479Y|LRBA_uc003ilu.3_Silent_p.Y2819Y|LRBA_uc003ilr.3_Silent_p.Y251Y	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2831	WD 6.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					ACCTCTGGTCGTAAGACAGCG	0.443												
FHDC1	85462	broad.mit.edu	37	4	153897118	153897118	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:153897118G>A	uc003inf.2	+	11	2750	c.2675G>A	c.(2674-2676)CGG>CAG	p.R892Q		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	892					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					AAGTCTGTGCGGACCCTGACC	0.672												
LRAT	9227	broad.mit.edu	37	4	155665779	155665779	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:155665779G>A	uc003iom.1	+	1	628	c.301G>A	c.(301-303)GTT>ATT	p.V101I	uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.V101I	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	101	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CATCCTGGGCGTTATTGTCAA	0.572												
FAM198B	51313	broad.mit.edu	37	4	159092400	159092400	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:159092400G>A	uc003ipp.3	-	2	580	c.128C>T	c.(127-129)GCG>GTG	p.A43V	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.A43V|FAM198B_uc003ipr.3_Missense_Mutation_p.A43V|FAM198B_uc003ips.2_Missense_Mutation_p.A43V|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	43	Helical; Signal-anchor for type II membrane protein; (Potential).					Golgi membrane|integral to membrane					0						GATGGCACACGCAGTGCCCAG	0.642												
GLRA3	8001	broad.mit.edu	37	4	175649729	175649729	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:175649729C>T	uc003ity.1	-	4	891	c.388G>A	c.(388-390)GAT>AAT	p.D130N	GLRA3_uc003itz.1_Missense_Mutation_p.D130N	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	130	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AAGAACAAATCAGGTTTCCAA	0.408												
ODZ3	55714	broad.mit.edu	37	4	183713497	183713497	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:183713497C>T	uc003ivd.1	+	25	5709	c.5672C>T	c.(5671-5673)GCC>GTC	p.A1891V		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1891	YD 7.|Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CGCCTGTCTGCCATCACCATG	0.522												
AHRR	57491	broad.mit.edu	37	5	427768	427768	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:427768C>A	uc003jav.2	+	8	781	c.737C>A	c.(736-738)GCT>GAT	p.A246D	AHRR_uc003jaw.2_Intron|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Intron|AHRR_uc003jax.2_Intron|AHRR_uc003jay.2_Intron	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGGTCACAGGCTTGGCAGCTG	0.512												
AHRR	57491	broad.mit.edu	37	5	434269	434269	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:434269G>A	uc003jav.2	+	12	1524	c.1480G>A	c.(1480-1482)GGT>AGT	p.G494S	AHRR_uc003jaw.2_Missense_Mutation_p.G472S|AHRR_uc010isy.2_Missense_Mutation_p.G322S|AHRR_uc010isz.2_Missense_Mutation_p.G472S|AHRR_uc003jax.2_Missense_Mutation_p.G235S|AHRR_uc003jay.2_Missense_Mutation_p.G332S|AHRR_uc003jaz.2_Missense_Mutation_p.G93S	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCGGGATGTCGGTGAGGACCA	0.657												
SLC9A3	6550	broad.mit.edu	37	5	482775	482775	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:482775C>T	uc003jbe.2	-	7	1356	c.1244G>A	c.(1243-1245)CGC>CAC	p.R415H	SLC9A3_uc011clx.1_Missense_Mutation_p.R415H	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	415						cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CACGGCCCCGCGCAGGCCCCC	0.607												
TERT	7015	broad.mit.edu	37	5	1294331	1294331	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:1294331G>A	uc003jcb.1	-	2	728	c.670C>T	c.(670-672)CGC>TGC	p.R224C	TERT_uc003jca.1_Missense_Mutation_p.R224C|TERT_uc003jcc.1_Missense_Mutation_p.R224C|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	224	RNA-interacting domain 1.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGCCCCCGCGCCTCCTCGCA	0.741									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic			
SLC6A3	6531	broad.mit.edu	37	5	1409934	1409934	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:1409934G>A	uc003jck.2	-	10	1421	c.1300C>T	c.(1300-1302)CTC>TTC	p.L434F		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	434					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCATCGATGAGCCCGGTGATC	0.617												
IRX1	79192	broad.mit.edu	37	5	3599501	3599501	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:3599501A>G	uc003jde.2	+	2	491	c.439A>G	c.(439-441)AAC>GAC	p.N147D		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	147	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GGCCTGGCTCAACGAGCACCG	0.632												
ADAMTS16	170690	broad.mit.edu	37	5	5232611	5232611	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:5232611G>A	uc003jdl.2	+	12	1970	c.1832G>A	c.(1831-1833)CGC>CAC	p.R611H	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R611H|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	611	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CATAGGAGTCGCCTCTGCACC	0.572												
CDH10	1008	broad.mit.edu	37	5	24505238	24505238	+	Missense_Mutation	SNP	A	A	C	rs13174039		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:24505238A>C	uc003jgr.1	-	8	1708	c.1376T>G	c.(1375-1377)GTT>GGT	p.V459G	CDH10_uc011cnu.1_Intron	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	459	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AGCAGCAATAACAGTAAGATT	0.294										HNSCC(23;0.051)		
PDZD2	23037	broad.mit.edu	37	5	32058080	32058080	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:32058080G>A	uc003jhl.2	+	12	2459	c.2071G>A	c.(2071-2073)GCC>ACC	p.A691T	PDZD2_uc003jhm.2_Missense_Mutation_p.A691T|PDZD2_uc011cnx.1_Missense_Mutation_p.A517T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	691					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GAGCAGATCCGCCTCCCCGAA	0.572												
NPR3	4883	broad.mit.edu	37	5	32712054	32712054	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:32712054T>G	uc003jhv.2	+	1	390	c.172T>G	c.(172-174)TTA>GTA	p.L58V	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.L58V	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	58	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	GGTGCTGGTGTTACTGCCCCA	0.542												
DAB2	1601	broad.mit.edu	37	5	39382876	39382876	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:39382876C>T	uc003jlx.2	-	10	1716	c.1185G>A	c.(1183-1185)CCG>CCA	p.P395P	DAB2_uc003jlw.2_Silent_p.P374P	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	395					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			CAAAAGGGTTCGGGGAGGATT	0.512												
PTGER4	5734	broad.mit.edu	37	5	40681632	40681632	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:40681632G>A	uc003jlz.2	+	2	1129	c.537G>A	c.(535-537)ACG>ACA	p.T179T		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	179	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						CCAACGTGACGGCGCACGCCG	0.632												
C5orf34	375444	broad.mit.edu	37	5	43506054	43506054	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:43506054G>A	uc003jnz.1	-	5	1045	c.728C>T	c.(727-729)TCT>TTT	p.S243F	C5orf34_uc011cpx.1_Missense_Mutation_p.S129F	NM_198566	NP_940968	Q96MH7	CE034_HUMAN	hypothetical protein LOC375444	243										breast(1)	1	Lung NSC(6;2.07e-05)					GGCAGCCACAGACCAGCACTG	0.413												
GZMA	3001	broad.mit.edu	37	5	54404137	54404137	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:54404137A>G	uc003jpm.2	+	4	579	c.542A>G	c.(541-543)GAT>GGT	p.D181G		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	181	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GTCTGCAATGATCGAAATCAC	0.428												
MAST4	375449	broad.mit.edu	37	5	66456371	66456371	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:66456371C>T	uc003jut.1	+	26	3237	c.3169C>T	c.(3169-3171)CGG>TGG	p.R1057W	MAST4_uc003juw.2_Missense_Mutation_p.R985W	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1249						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTATAAGAGCCGGATGGTGAG	0.398												
RAD17	5884	broad.mit.edu	37	5	68687822	68687822	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:68687822A>G	uc003jwo.2	+	10	1266	c.1204A>G	c.(1204-1206)AAA>GAA	p.K402E	RAD17_uc003jwg.2_Missense_Mutation_p.K391E|RAD17_uc003jwh.2_Missense_Mutation_p.K391E|RAD17_uc003jwi.2_Missense_Mutation_p.K391E|RAD17_uc003jwj.2_Missense_Mutation_p.K391E|RAD17_uc003jwk.2_Missense_Mutation_p.K391E|RAD17_uc003jwl.2_Missense_Mutation_p.K391E|RAD17_uc003jwm.2_Missense_Mutation_p.K226E|RAD17_uc003jwn.2_Missense_Mutation_p.K305E|RAD17_uc003jwp.2_5'Flank	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2	402					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGCTTTGGGGAAAATTCTATA	0.294								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes				
ZNF366	167465	broad.mit.edu	37	5	71756247	71756247	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:71756247G>A	uc003kce.1	-	2	1263	c.1077C>T	c.(1075-1077)CAC>CAT	p.H359H		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	359	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCCCACTGGCGTGCTTGGCTT	0.662												
GFM2	84340	broad.mit.edu	37	5	74028900	74028900	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:74028900G>A	uc003kdh.1	-	16	1838	c.1534C>T	c.(1534-1536)CTT>TTT	p.L512F	GFM2_uc003kdi.1_Missense_Mutation_p.L465F|GFM2_uc010izj.1_Missense_Mutation_p.L544F|GFM2_uc010izk.1_RNA	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	512					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TCACGCTGAAGACATTTCAAC	0.289												
COL4A3BP	10087	broad.mit.edu	37	5	74698880	74698880	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:74698880C>A	uc011csu.1	-	9	1356	c.934G>T	c.(934-936)GGC>TGC	p.G312C	COL4A3BP_uc003kds.2_Missense_Mutation_p.G312C|COL4A3BP_uc003kdt.2_Missense_Mutation_p.G440C|COL4A3BP_uc003kdu.2_Missense_Mutation_p.G312C	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	alpha 3 type IV collagen binding protein isoform	312					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			skin(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CTGTTAGGGCCTTCCTATTCC	0.333												
CAMK4	814	broad.mit.edu	37	5	110560283	110560283	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:110560283C>T	uc011cvj.1	+	2	201	c.102C>T	c.(100-102)ATC>ATT	p.I34I	CAMK4_uc003kpf.2_Silent_p.I34I|CAMK4_uc010jbv.2_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	34					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATTACTGGATCGACGGCTCCA	0.687												
APC	324	broad.mit.edu	37	5	112177857	112177857	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:112177857A>G	uc010jby.2	+	16	6946	c.6566A>G	c.(6565-6567)AAA>AGA	p.K2189R	APC_uc011cvt.1_Missense_Mutation_p.K2171R|APC_uc003kpz.3_Missense_Mutation_p.K2189R|APC_uc003kpy.3_Missense_Mutation_p.K2189R|APC_uc010jbz.2_Missense_Mutation_p.K1906R|APC_uc010jca.2_Missense_Mutation_p.K1489R	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2189	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGGAATCAAAGGAGGAAAA	0.343		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
CHSY3	337876	broad.mit.edu	37	5	129241210	129241210	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:129241210G>A	uc003kvd.2	+	1	688	c.688G>A	c.(688-690)GAC>AAC	p.D230N		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	230	Lumenal (Potential).|Pro-rich.					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ACCGGGTGTGGACGACTCCTA	0.612												
TRPC7	57113	broad.mit.edu	37	5	135549172	135549172	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:135549172T>G	uc003lbn.1	-	11	2540	c.2537A>C	c.(2536-2538)AAG>ACG	p.K846T	TRPC7_uc010jef.1_Missense_Mutation_p.K783T|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.K777T|TRPC7_uc010jei.1_Missense_Mutation_p.K722T|TRPC7_uc010jej.1_Missense_Mutation_p.K398T	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	847	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTAAGTTCTTTCCAAACTT	0.488												
TRPC7	57113	broad.mit.edu	37	5	135692820	135692820	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:135692820C>T	uc003lbn.1	-	1	256	c.253G>A	c.(253-255)GTG>ATG	p.V85M	TRPC7_uc010jef.1_Missense_Mutation_p.V77M|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.V77M|TRPC7_uc010jei.1_Missense_Mutation_p.V77M|TRPC7_uc010jej.1_Translation_Start_Site	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	86	Cytoplasmic (Potential).|ANK 2.				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGTTGCCCACGGCCAGCTGC	0.597												
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139865292	139865292	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:139865292C>A	uc003lfs.1	+	13	2241	c.2117C>A	c.(2116-2118)CCT>CAT	p.P706H	ANKHD1_uc003lfq.1_Missense_Mutation_p.P725H|ANKHD1_uc003lfr.2_Missense_Mutation_p.P706H|ANKHD1_uc003lft.1_Missense_Mutation_p.P186H|ANKHD1_uc003lfu.1_Missense_Mutation_p.P186H|ANKHD1_uc003lfv.1_Missense_Mutation_p.P36H	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	706						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCAGCTCCCTCCACCTTCT	0.358												
PCDHA1	56147	broad.mit.edu	37	5	140166076	140166076	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:140166076G>A	uc003lhb.2	+	1	201	c.201G>A	c.(199-201)GCG>GCA	p.A67A	PCDHA1_uc003lha.2_Silent_p.A67A|PCDHA1_uc003lgz.2_Silent_p.A67A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	67	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGTGGCGTCCAAAACAC	0.602												
PCDHA4	56144	broad.mit.edu	37	5	140188623	140188623	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:140188623C>T	uc003lhi.2	+	1	1952	c.1851C>T	c.(1849-1851)GGC>GGT	p.G617G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.G617G|PCDHA4_uc011daa.1_Silent_p.G617G	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	617	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACTGGTGGCGCGCGCATCC	0.682												
PCDHA7	56141	broad.mit.edu	37	5	140215888	140215888	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:140215888G>A	uc003lhq.2	+	1	1920	c.1920G>A	c.(1918-1920)ACG>ACA	p.T640T	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_uc011dac.1_Silent_p.T640T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	640	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGATGAGACGGACGCACCGC	0.652												
PCDHA11	56138	broad.mit.edu	37	5	140249016	140249016	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:140249016G>A	uc003lia.2	+	1	1186	c.328G>A	c.(328-330)GTG>ATG	p.V110M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.V110M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	110	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTGATCGTGGACAGGCC	0.552												
PCDHGA8	9708	broad.mit.edu	37	5	140773918	140773918	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:140773918T>C	uc003lkd.1	+	1	2436	c.1538T>C	c.(1537-1539)GTC>GCC	p.V513A	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_uc003lkb.3_Missense_Mutation_p.V513A	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	513	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACCGGTGTCCTGTATGCG	0.592												
PCDHGB5	56101	broad.mit.edu	37	5	140779258	140779258	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:140779258C>T	uc003lkf.1	+	1	1564	c.1564C>T	c.(1564-1566)CGC>TGC	p.R522C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.R522C	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	522	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCAGCTGCGCACCTTCGA	0.652												
GRIA1	2890	broad.mit.edu	37	5	153085479	153085479	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:153085479C>T	uc003lva.3	+	11	2040	c.1675C>T	c.(1675-1677)CGC>TGC	p.R559C	GRIA1_uc003luy.3_Missense_Mutation_p.R559C|GRIA1_uc003luz.3_Missense_Mutation_p.R464C|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R479C|GRIA1_uc011dcx.1_Missense_Mutation_p.R490C|GRIA1_uc011dcy.1_Missense_Mutation_p.R569C|GRIA1_uc011dcz.1_Missense_Mutation_p.R569C|GRIA1_uc010jia.1_Missense_Mutation_p.R539C	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	559	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTGGTCAGCCGCTTCAGTCC	0.483												
FGFR4	2264	broad.mit.edu	37	5	176524326	176524326	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:176524326G>A	uc003mfl.2	+	17	2354	c.2187G>A	c.(2185-2187)GCG>GCA	p.A729A	FGFR4_uc003mfm.2_Silent_p.A729A|FGFR4_uc011dfu.1_Silent_p.A661A|FGFR4_uc003mfo.2_Silent_p.A689A	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	729	Protein kinase.|Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	p.A689A(1)|p.A729A(1)		lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GGCACGCAGCGCCCTCCCAGA	0.687										TSP Lung(9;0.080)		
HNRNPH1	3187	broad.mit.edu	37	5	179042578	179042578	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:179042578T>A	uc003mkf.3	-	13	1425	c.1319A>T	c.(1318-1320)AAC>ATC	p.N440I	HNRNPH1_uc011dgn.1_Missense_Mutation_p.N150I|HNRNPH1_uc003mkg.3_Missense_Mutation_p.N348I|HNRNPH1_uc003mke.3_Missense_Mutation_p.N440I|HNRNPH1_uc003mkh.3_Missense_Mutation_p.N440I	NM_005520	NP_005511	P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1	440					regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding				0						ATCACTGGAGTTTTCCTGTAA	0.274												
MGAT4B	11282	broad.mit.edu	37	5	179226099	179226099	+	Missense_Mutation	SNP	G	G	A	rs146600579		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:179226099G>A	uc003mks.2	-	11	1541	c.1172C>T	c.(1171-1173)GCG>GTG	p.A391V	MGAT4B_uc003mkp.2_Missense_Mutation_p.A245V|MGAT4B_uc003mkq.2_Silent_p.G166G|MGAT4B_uc003mkr.2_Missense_Mutation_p.A406V|MIR1229_hsa-mir-1229|MI0006319_5'Flank	NM_014275	NP_055090	Q9UQ53	MGT4B_HUMAN	alpha-1,3-mannosyl-glycoprotein	391	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding				0	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCCGCAGCGCCTGCTTTCC	0.622												
TBC1D9B	23061	broad.mit.edu	37	5	179290483	179290483	+	Missense_Mutation	SNP	C	C	T	rs151265651	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:179290483C>T	uc003mlh.2	-	22	3755	c.3718G>A	c.(3718-3720)GCC>ACC	p.A1240T	TBC1D9B_uc003mli.2_Missense_Mutation_p.A1223T|TBC1D9B_uc003mlj.2_Missense_Mutation_p.A1222T|TBC1D9B_uc003mlf.2_Missense_Mutation_p.A314T|TBC1D9B_uc003mlg.2_Missense_Mutation_p.A399T|TBC1D9B_uc011dgv.1_Missense_Mutation_p.A399T	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1240						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTCACTGGCGGTGCTGAAC	0.562												
MGAT1	4245	broad.mit.edu	37	5	180219400	180219400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:180219400C>T	uc003mmg.3	-	2	1067	c.572G>A	c.(571-573)TGG>TAG	p.W191*	MGAT1_uc010jlf.2_Nonsense_Mutation_p.W191*|MGAT1_uc010jlg.2_Nonsense_Mutation_p.W191*|MGAT1_uc003mmh.3_Nonsense_Mutation_p.W191*|MGAT1_uc010jlh.2_Nonsense_Mutation_p.W191*|MGAT1_uc003mmi.3_Nonsense_Mutation_p.W191*	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	191	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCAGCGCCCAGCGGTAGTG	0.677												
RIPK1	8737	broad.mit.edu	37	6	3077208	3077208	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:3077208C>A	uc010jni.2	+	2	383	c.151C>A	c.(151-153)CCC>ACC	p.P51T	RIPK1_uc003muv.3_5'UTR|RIPK1_uc003muw.3_Intron|RIPK1_uc011dhs.1_Missense_Mutation_p.P51T|RIPK1_uc003mux.2_Missense_Mutation_p.P51T	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine	51	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GTACAAGGGGCCCAACTGCAT	0.582												
HIVEP1	3096	broad.mit.edu	37	6	12124092	12124092	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:12124092A>G	uc003nac.2	+	4	4243	c.4064A>G	c.(4063-4065)AAT>AGT	p.N1355S	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1355					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)				AATACTCTGAATGTTCCTGGA	0.428												
HIST1H3C	8352	broad.mit.edu	37	6	26046023	26046023	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:26046023C>T	uc003nfv.2	+	1	385	c.385C>T	c.(385-387)CGT>TGT	p.R129C	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	129					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						CCAGCTGGCACGTCGCATCCG	0.498												
BTN2A1	11120	broad.mit.edu	37	6	26468713	26468713	+	Missense_Mutation	SNP	A	A	G	rs149725979	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:26468713A>G	uc003nib.1	+	8	1732	c.1520A>G	c.(1519-1521)AAT>AGT	p.N507S	BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Missense_Mutation_p.N355S|BTN2A1_uc011dko.1_Missense_Mutation_p.N446S|BTN2A1_uc010jqk.1_Intron	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	507	Cytoplasmic (Potential).				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						ACAGGAGCCAATGGGGTCACG	0.567												
BTN2A1	11120	broad.mit.edu	37	6	26468722	26468722	+	Missense_Mutation	SNP	C	C	T	rs145758816	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:26468722C>T	uc003nib.1	+	8	1741	c.1529C>T	c.(1528-1530)ACG>ATG	p.T510M	BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Missense_Mutation_p.T358M|BTN2A1_uc011dko.1_Missense_Mutation_p.T449M|BTN2A1_uc010jqk.1_Intron	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	510	Cytoplasmic (Potential).				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						AATGGGGTCACGGTGCCTGAA	0.567												
SCAND3	114821	broad.mit.edu	37	6	28540669	28540669	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:28540669G>A	uc003nlo.2	-	4	3615	c.2997C>T	c.(2995-2997)TGC>TGT	p.C999C		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	999					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						gatgaatgaagcaatgtgttg	0												
OR11A1	26531	broad.mit.edu	37	6	29394924	29394924	+	Silent	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:29394924G>T	uc003nmg.2	-	1	586	c.495C>A	c.(493-495)GCC>GCA	p.A165A		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACCTCAGCTGGGCCACCAGGG	0.572												
TRIM26	7726	broad.mit.edu	37	6	30166814	30166814	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:30166814G>T	uc003npr.2	-	3	276	c.67C>A	c.(67-69)CTG>ATG	p.L23M	TRIM26_uc003nps.2_Missense_Mutation_p.L23M|TRIM26_uc010jry.2_Translation_Start_Site|TRIM26_uc003npt.2_Missense_Mutation_p.L23M|TRIM26_uc003npu.1_Missense_Mutation_p.L23M	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	23	RING-type.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3						GGGTCCCGCAGGTAATCAAGA	0.612												
MUC21	394263	broad.mit.edu	37	6	30955787	30955787	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:30955787T>G	uc003nsh.2	+	3	1768	c.1517T>G	c.(1516-1518)CTG>CGG	p.L506R	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	506	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						AGAAACAGCCTGTCCCTGAGA	0.522												
NFKBIL1	4795	broad.mit.edu	37	6	31525449	31525449	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:31525449G>A	uc003nub.2	+	3	498	c.379G>A	c.(379-381)GCC>ACC	p.A127T	NFKBIL1_uc011dnr.1_Missense_Mutation_p.A104T|NFKBIL1_uc011dns.1_Missense_Mutation_p.A104T|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Missense_Mutation_p.A127T	NM_005007	NP_004998	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene	127	ANK 2.				cytoplasmic sequestering of transcription factor		protein binding				0						CTGTCCCTCCGCCATGGGAAT	0.577												
RXRB	6257	broad.mit.edu	37	6	33163388	33163388	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:33163388G>A	uc003odb.2	-	7	1394	c.1215C>T	c.(1213-1215)CGC>CGT	p.R405R	RXRB_uc003odc.2_Silent_p.R405R|RXRB_uc003odd.2_Silent_p.R309R|RXRB_uc011dqr.1_Silent_p.R215R|RXRB_uc011dqs.1_3'UTR	NM_021976	NP_068811	P28702	RXRB_HUMAN	retinoid X receptor, beta	405	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			ovary(3)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGGCTGAGTTGCGGTGCACGT	0.572												
ZBTB9	221504	broad.mit.edu	37	6	33424018	33424018	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:33424018G>A	uc003oeq.2	+	2	1409	c.1141G>A	c.(1141-1143)GGA>AGA	p.G381R		NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	381	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCCTGCAGATGGAAAACGCTT	0.597												
SPDEF	25803	broad.mit.edu	37	6	34512112	34512112	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:34512112G>A	uc003ojq.1	-	2	536	c.121C>T	c.(121-123)CGG>TGG	p.R41W	SPDEF_uc011dsq.1_Missense_Mutation_p.R41W	NM_012391	NP_036523	O95238	SPDEF_HUMAN	SAM pointed domain containing ets transcription	41					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(3)|ovary(1)|central_nervous_system(1)	5						CTCCAGTCCCGTCTCTCGAGA	0.672												
ZNF76	7629	broad.mit.edu	37	6	35259412	35259412	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:35259412C>T	uc003oki.1	+	9	1034	c.829C>T	c.(829-831)CGC>TGC	p.R277C	ZNF76_uc011dsy.1_Missense_Mutation_p.R277C|ZNF76_uc011dsz.1_Missense_Mutation_p.R277C|ZNF76_uc003okj.1_Missense_Mutation_p.R277C	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	277	C2H2-type 4.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTACATGTGCGCACCCACAC	0.602												
STK38	11329	broad.mit.edu	37	6	36475326	36475326	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:36475326A>G	uc003omg.2	-	7	1311	c.723T>C	c.(721-723)CAT>CAC	p.H241H	STK38_uc003omh.2_Silent_p.H241H|STK38_uc003omi.2_Silent_p.H241H	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	241	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						ATTCTGTCCTATGTGCTTTTT	0.423												
MTCH1	23787	broad.mit.edu	37	6	36946332	36946332	+	Silent	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:36946332G>T	uc003ond.1	-	3	462	c.462C>A	c.(460-462)CCC>CCA	p.P154P	MTCH1_uc003onc.1_Silent_p.P154P|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Silent_p.P154P|MTCH1_uc011dtt.1_5'UTR	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier homolog 1	154	Solcar 1.				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding				0						ACATCAGCCGGGGACTCAGGC	0.557												
MDGA1	266727	broad.mit.edu	37	6	37613720	37613720	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:37613720G>A	uc003onu.1	-	12	3416	c.2237C>T	c.(2236-2238)CCG>CTG	p.P746L	MDGA1_uc003onv.1_Missense_Mutation_p.P15L	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	746					brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						TGAAAGGTTCGGAGAGTTGAT	0.547												
ZFAND3	60685	broad.mit.edu	37	6	38084410	38084410	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:38084410C>T	uc003onx.2	+	5	839	c.424C>T	c.(424-426)CGG>TGG	p.R142W		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	142							DNA binding|zinc ion binding			ovary(1)	1						GAATACGGAACGGTCCGAGGA	0.498												
DAAM2	23500	broad.mit.edu	37	6	39869739	39869739	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:39869739C>T	uc003oow.2	+	25	3289	c.3133C>T	c.(3133-3135)CGC>TGC	p.R1045C	DAAM2_uc003oox.2_Missense_Mutation_p.R1044C	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	1045	DAD.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAAGCTCAAGCGCAGCCGCAA	0.612												
PGC	5225	broad.mit.edu	37	6	41712453	41712453	+	Silent	SNP	A	A	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:41712453A>T	uc003ora.1	-	2	202	c.153T>A	c.(151-153)GCT>GCA	p.A51A		NM_002630	NP_002621	P20142	PEPC_HUMAN	progastricsin (pepsinogen C) precursor	51					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGTACTTCCAAGCAGGATCAT	0.537												
BYSL	705	broad.mit.edu	37	6	41900303	41900303	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:41900303C>T	uc003orl.2	+	7	1509	c.1173C>T	c.(1171-1173)GCC>GCT	p.A391A		NM_004053	NP_004044	Q13895	BYST_HUMAN	bystin	391					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus					0	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTACAAGGCCGACTTGGCCA	0.592												
CUL9	23113	broad.mit.edu	37	6	43166460	43166460	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:43166460C>T	uc003ouk.2	+	12	2992	c.2917C>T	c.(2917-2919)CGT>TGT	p.R973C	CUL9_uc003oul.2_Missense_Mutation_p.R973C|CUL9_uc010jyk.2_Missense_Mutation_p.R125C	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	973					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TGTGCTGTGCCGTGAGGGCAG	0.642												
TDRD6	221400	broad.mit.edu	37	6	46656498	46656498	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:46656498C>T	uc003oyj.2	+	1	633	c.633C>T	c.(631-633)CGC>CGT	p.R211R	TDRD6_uc010jze.2_Silent_p.R205R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	211					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TGCTGGAGCGCTATCTCACAG	0.647												
TDRD6	221400	broad.mit.edu	37	6	46661523	46661523	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:46661523C>T	uc003oyj.2	+	1	5658	c.5658C>T	c.(5656-5658)GGC>GGT	p.G1886G	TDRD6_uc010jze.2_Silent_p.G1880G	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1886					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TCACAAAAGGCGCCATGGAGC	0.498												
EFHC1	114327	broad.mit.edu	37	6	52329890	52329890	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:52329890C>T	uc003pap.3	+	6	1329	c.1114C>T	c.(1114-1116)CGG>TGG	p.R372W	EFHC1_uc011dwv.1_Missense_Mutation_p.R281W|EFHC1_uc011dww.1_Missense_Mutation_p.R353W	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	372						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					TGTGAGCAAGCGGGAACCACC	0.353												
ICK	22858	broad.mit.edu	37	6	52878462	52878462	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:52878462A>G	uc003pbh.2	-	10	1640	c.1150T>C	c.(1150-1152)TCG>CCG	p.S384P	ICK_uc003pbi.2_Missense_Mutation_p.S384P	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	384					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					CTGCTCACCGACTGTGGATGC	0.493												
PHIP	55023	broad.mit.edu	37	6	79752650	79752650	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:79752650A>G	uc003pir.2	-	7	736	c.510T>C	c.(508-510)TAT>TAC	p.Y170Y	PHIP_uc011dyp.1_Silent_p.Y170Y	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	170					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCATGTGCTGATACACTGCAG	0.378												
SNAP91	9892	broad.mit.edu	37	6	84417539	84417539	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:84417539G>A	uc011dze.1	-	2	425	c.108C>T	c.(106-108)GGC>GGT	p.G36G	SNAP91_uc003pkb.2_5'UTR|SNAP91_uc003pkc.2_Silent_p.G36G|SNAP91_uc003pkd.2_Silent_p.G36G|SNAP91_uc003pka.2_Silent_p.G36G|SNAP91_uc011dzf.1_5'UTR	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	36	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TTTTCTTGGGGCCCATTACTT	0.572												
C6orf165	154313	broad.mit.edu	37	6	88138405	88138405	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:88138405G>T	uc003plv.2	+	9	1114	c.1022G>T	c.(1021-1023)GGT>GTT	p.G341V	C6orf165_uc003plw.2_Missense_Mutation_p.G153V|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.G341V	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	341										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ATTGTGGTTGGTGTCCTCAGT	0.408												
RRAGD	58528	broad.mit.edu	37	6	90097137	90097137	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:90097137G>A	uc003pnd.3	-	2	604	c.321C>T	c.(319-321)AAC>AAT	p.N107N	RRAGD_uc010kcc.2_Intron	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	107					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CAAAGGAGCTGTTGGAAACAT	0.428												
MDN1	23195	broad.mit.edu	37	6	90461284	90461284	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:90461284T>G	uc003pnn.1	-	23	3209	c.3093A>C	c.(3091-3093)AAA>AAC	p.K1031N	MDN1_uc003pno.1_Missense_Mutation_p.K450N	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1031					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)		GCCGACCTCCTTTTGGCTCTG	0.458												
CASP8AP2	9994	broad.mit.edu	37	6	90573907	90573907	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:90573907G>A	uc003pnr.2	+	7	2675	c.2479G>A	c.(2479-2481)GCA>ACA	p.A827T	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.A827T|CASP8AP2_uc011dzz.1_Missense_Mutation_p.A827T	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	827					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CCACAGAATGGCAACTGGTGA	0.433												
ASCC3	10973	broad.mit.edu	37	6	101077033	101077033	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:101077033C>T	uc003pqk.2	-	27	4562	c.4233G>A	c.(4231-4233)GTG>GTA	p.V1411V		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1411	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TATCAGGAGTCACATCCCCTG	0.423												
NR2E1	7101	broad.mit.edu	37	6	108492665	108492665	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:108492665G>A	uc003psg.2	+	2	784	c.29G>A	c.(28-30)CGC>CAC	p.R10H		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	10					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		ATTTCAGGCCGCATTTTAGAT	0.363												
AKD1	221264	broad.mit.edu	37	6	109867151	109867151	+	Silent	SNP	G	G	A	rs151316525		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:109867151G>A	uc003ptn.2	-	26	3221	c.3144C>T	c.(3142-3144)AAC>AAT	p.N1048N	AKD1_uc011eat.1_Silent_p.N127N	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1048					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						CAGCTTGCTCGTTCTCAGAAT	0.348												
TRAF3IP2	10758	broad.mit.edu	37	6	111896928	111896928	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:111896928C>T	uc011ebc.1	-	5	1734	c.1119G>A	c.(1117-1119)CCG>CCA	p.P373P	TRAF3IP2_uc003pvd.2_5'Flank|TRAF3IP2_uc003pvg.2_Silent_p.P373P|TRAF3IP2_uc003pvf.2_Silent_p.P373P|TRAF3IP2_uc010kdw.2_Silent_p.P373P|TRAF3IP2_uc010kdx.2_Silent_p.P373P	NM_147686	NP_679211	O43734	CIKS_HUMAN	TRAF3 interacting protein 2 isoform 2	382					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				ovary(2)|central_nervous_system(1)	3		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CAGCTGGGGACGGAGGCTGGG	0.557												
NUS1	116150	broad.mit.edu	37	6	118015303	118015303	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:118015303A>G	uc003pxw.2	+	3	868	c.651A>G	c.(649-651)AGA>AGG	p.R217R		NM_138459	NP_612468	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1	217	Cytoplasmic (Potential).				angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)	1		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		AGCAAAAGAGACCCACAGATT	0.333												
C6orf174	387104	broad.mit.edu	37	6	127796990	127796990	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:127796990G>A	uc003qbd.2	-	6	3046	c.2181C>T	c.(2179-2181)CGC>CGT	p.R727R	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	727						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		ACATAAGCACGCGGTTCTCGT	0.667												
HIVEP2	3097	broad.mit.edu	37	6	143091558	143091558	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:143091558G>A	uc003qjd.2	-	5	5061	c.4318C>T	c.(4318-4320)CGA>TGA	p.R1440*		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAAAGCATTCGCTTGCTACCT	0.517												
TIAM2	26230	broad.mit.edu	37	6	155574136	155574136	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:155574136C>T	uc003qqb.2	+	26	5447	c.4174C>T	c.(4174-4176)CGC>TGC	p.R1392C	TIAM2_uc003qqe.2_Missense_Mutation_p.R1392C|TIAM2_uc010kjj.2_Missense_Mutation_p.R954C|TIAM2_uc003qqf.2_Missense_Mutation_p.R768C|TIAM2_uc011efl.1_Missense_Mutation_p.R728C|TIAM2_uc003qqg.2_Missense_Mutation_p.R704C|TIAM2_uc003qqh.2_Missense_Mutation_p.R317C	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1392	PH 2.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ATTTAAATTCCGCTGGTTGAT	0.488												
TFB1M	51106	broad.mit.edu	37	6	155581523	155581523	+	Silent	SNP	G	G	A	rs149796947	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:155581523G>A	uc003qqj.3	-	6	742	c.678C>T	c.(676-678)GGC>GGT	p.G226G	TFB1M_uc003qqk.2_Intron	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AGTGCACCACGCCCACGTCCA	0.438												
SMOC2	64094	broad.mit.edu	37	6	168999659	168999659	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:168999659C>T	uc003qws.1	+	8	819	c.799C>T	c.(799-801)CGC>TGC	p.R267C	SMOC2_uc003qwr.1_Missense_Mutation_p.R278C	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	267	Thyroglobulin type-1 2.				signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GGACACGGGGCGCCCCATTCC	0.652												
PRKAR1B	5575	broad.mit.edu	37	7	618981	618981	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:618981G>A	uc003siu.1	-	10	909	c.803C>T	c.(802-804)GCG>GTG	p.A268V	PRKAR1B_uc003siv.2_Missense_Mutation_p.A268V|PRKAR1B_uc003siw.1_Missense_Mutation_p.A268V|PRKAR1B_uc003six.1_RNA	NM_002735	NP_002726	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type	268	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity				0		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CAGCGCATCCGCCACGGTCAG	0.607												
INTS1	26173	broad.mit.edu	37	7	1523451	1523451	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:1523451G>A	uc003skn.2	-	26	3569	c.3468C>T	c.(3466-3468)AGC>AGT	p.S1156S	INTS1_uc003skp.1_Silent_p.S503S	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1156					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGTCTCCCCGCTGCTCCAGC	0.662												
TMEM184A	202915	broad.mit.edu	37	7	1590549	1590549	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:1590549C>T	uc003skv.3	-	3	606	c.289G>A	c.(289-291)GTG>ATG	p.V97M	TMEM184A_uc003skt.3_Translation_Start_Site|TMEM184A_uc003skw.3_Translation_Start_Site	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	97	Helical; (Potential).					integral to membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		TAGATGGGCACGATGAGGAGC	0.612												
AMZ1	155185	broad.mit.edu	37	7	2752350	2752350	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:2752350C>T	uc003smr.1	+	7	1696	c.1335C>T	c.(1333-1335)GGC>GGT	p.G445G	AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Silent_p.G194G	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	445							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TGTTCACGGGCCAGCTCCCGG	0.677												
PMS2	5395	broad.mit.edu	37	7	6026895	6026895	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:6026895C>T	uc003spl.2	-	11	1588	c.1501G>A	c.(1501-1503)GTG>ATG	p.V501M	PMS2_uc003spj.2_Missense_Mutation_p.V395M|PMS2_uc003spk.2_Missense_Mutation_p.V366M|PMS2_uc011jwl.1_Missense_Mutation_p.V366M|PMS2_uc010ktg.2_Missense_Mutation_p.V190M|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.V501M	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	501					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TCAGAATCCACGGAAGTGCTG	0.627			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
PMS2	5395	broad.mit.edu	37	7	6042145	6042145	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:6042145A>G	uc003spl.2	-	5	563	c.476T>C	c.(475-477)GTG>GCG	p.V159A	PMS2_uc003spj.2_Missense_Mutation_p.V53A|PMS2_uc003spk.2_Missense_Mutation_p.V24A|PMS2_uc011jwl.1_Missense_Mutation_p.V24A|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_Missense_Mutation_p.V159A|PMS2_uc010ktf.1_Missense_Mutation_p.V159A	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	159					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TAACTGCTGCACGCTGACTGT	0.453			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
THSD7A	221981	broad.mit.edu	37	7	11441596	11441596	+	Splice_Site	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:11441596C>A	uc003ssf.3	-	22	4490	c.4238_splice	c.e22-1	p.G1413_splice		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TAACAGTCACCTGTAAAACAC	0.443										HNSCC(18;0.044)		
OSBPL3	26031	broad.mit.edu	37	7	24874117	24874117	+	Silent	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:24874117G>T	uc003sxf.2	-	15	2139	c.1734C>A	c.(1732-1734)CCC>CCA	p.P578P	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.P542P|OSBPL3_uc003sxh.2_Silent_p.P547P|OSBPL3_uc003sxi.2_Silent_p.P511P|OSBPL3_uc003sxj.1_Silent_p.P307P|OSBPL3_uc003sxk.1_Silent_p.P276P	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	578					lipid transport		lipid binding|protein binding			skin(1)	1						TCCTTTCCAGGGGGCTGGGAA	0.647												
CCDC129	223075	broad.mit.edu	37	7	31690787	31690787	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:31690787C>T	uc003tcj.1	+	12	3608	c.2615C>T	c.(2614-2616)ACG>ATG	p.T872M	CCDC129_uc011kad.1_Missense_Mutation_p.T882M|CCDC129_uc003tci.1_Missense_Mutation_p.T723M|CCDC129_uc011kae.1_Missense_Mutation_p.T898M|CCDC129_uc003tck.1_Missense_Mutation_p.T780M	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	872											0						GCCATGAAGACGATATGCCAA	0.468												
EPDR1	54749	broad.mit.edu	37	7	37960699	37960699	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:37960699T>C	uc003tfp.2	+	1	537	c.518T>C	c.(517-519)GTT>GCT	p.V173A	EPDR1_uc003tfq.2_Missense_Mutation_p.V173A|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	53					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						GGGCGCCAGGTTATGTACCAG	0.726												
AEBP1	165	broad.mit.edu	37	7	44153500	44153500	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:44153500C>T	uc003tkb.2	+	21	3422	c.3117C>T	c.(3115-3117)AAC>AAT	p.N1039N	AEBP1_uc003tkc.3_Silent_p.N614N|AEBP1_uc003tkd.2_Silent_p.N289N	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	1039	Required for transcriptional repression (By similarity).|Interaction with MAPK1 and MAPK3 (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GGCGCCTCAACGCCACCACCA	0.697												
ADCY1	107	broad.mit.edu	37	7	45632428	45632428	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:45632428G>A	uc003tne.3	+	2	728	c.710G>A	c.(709-711)CGT>CAT	p.R237H	ADCY1_uc003tnd.2_Missense_Mutation_p.R12H	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	237	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGACTGAGCGTTCACAGAGG	0.577												
ADCY1	107	broad.mit.edu	37	7	45742987	45742987	+	Nonsense_Mutation	SNP	C	C	T	rs61738404		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:45742987C>T	uc003tne.3	+	15	2485	c.2467C>T	c.(2467-2469)CGA>TGA	p.R823*		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	823	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGAGGAGGAGCGAGAGGACAT	0.567												
PKD1L1	168507	broad.mit.edu	37	7	47851593	47851593	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:47851593C>T	uc003tny.1	-	50	7403	c.7403G>A	c.(7402-7404)AGC>AAC	p.S2468N	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Missense_Mutation_p.S195N	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2468	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AGCCCTGGTGCTGCGGTCAAT	0.587												
ZNF713	349075	broad.mit.edu	37	7	56007543	56007543	+	Silent	SNP	T	T	C	rs113149662		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:56007543T>C	uc003trc.1	+	4	1175	c.1137T>C	c.(1135-1137)CAT>CAC	p.H379H	ZNF713_uc003tra.1_Silent_p.H392H|MRPS17_uc003trb.2_Intron	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	379	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAAGAACTCATACAGGAGAGA	0.413												
ABHD11	83451	broad.mit.edu	37	7	73153053	73153053	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:73153053G>A	uc003tzb.2	-	1	132	c.75C>T	c.(73-75)GGC>GGT	p.G25G	RFC2_uc011kfa.1_Intron|ABHD11_uc011kfb.1_Silent_p.G25G|ABHD11_uc003tzc.2_Silent_p.G25G|ABHD11_uc003tza.2_5'UTR|ABHD11_uc003tzf.2_Silent_p.G25G|ABHD11_uc011kfc.1_Silent_p.G25G	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11 isoform 1	25							hydrolase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGCCGTGGGGGCCGAGTCCCT	0.692												
WBSCR28	135886	broad.mit.edu	37	7	73280112	73280112	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:73280112T>C	uc003tzk.2	+	3	743	c.707T>C	c.(706-708)GTC>GCC	p.V236A	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Missense_Mutation_p.V135A	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	236						integral to membrane				breast(1)	1		Lung NSC(55;0.159)				CCCCAGGAGGTCTCAGGGTCT	0.592												
ZNF804B	219578	broad.mit.edu	37	7	88963218	88963218	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:88963218G>A	uc011khi.1	+	4	1460	c.922G>A	c.(922-924)GAC>AAC	p.D308N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	308						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGACAAACACGACTCTATTGA	0.358										HNSCC(36;0.09)		
SAMD9	54809	broad.mit.edu	37	7	92733171	92733171	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:92733171G>A	uc003umf.2	-	3	2496	c.2240C>T	c.(2239-2241)GCT>GTT	p.A747V	SAMD9_uc003umg.2_Missense_Mutation_p.A747V	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	747						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AATGTGCATAGCCAAGGTAGT	0.393												
COL1A2	1278	broad.mit.edu	37	7	94041414	94041414	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:94041414C>T	uc003ung.1	+	24	1856	c.1385C>T	c.(1384-1386)GCT>GTT	p.A462V	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	462			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ATCGGCCCCGCTGGAAAAGAA	0.368										HNSCC(75;0.22)		
DYNC1I1	1780	broad.mit.edu	37	7	95499216	95499216	+	Silent	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:95499216C>A	uc003uoc.3	+	6	724	c.447C>A	c.(445-447)GGC>GGA	p.G149G	DYNC1I1_uc003uod.3_Silent_p.G132G|DYNC1I1_uc003uob.2_Silent_p.G112G|DYNC1I1_uc003uoe.3_Silent_p.G129G|DYNC1I1_uc010lfl.2_Silent_p.G138G	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	149					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ATAAACTGGGCGTGTCAAAGG	0.453												
TRRAP	8295	broad.mit.edu	37	7	98540640	98540640	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:98540640C>T	uc003upp.2	+	31	4682	c.4473C>T	c.(4471-4473)AAC>AAT	p.N1491N	TRRAP_uc011kis.1_Silent_p.N1491N|TRRAP_uc003upr.2_Silent_p.N1183N	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1491					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCGACGGAAACGTGAGTGACT	0.522												
TRRAP	8295	broad.mit.edu	37	7	98574288	98574288	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:98574288G>A	uc003upp.2	+	54	8330	c.8121G>A	c.(8119-8121)ACG>ACA	p.T2707T	TRRAP_uc011kis.1_Silent_p.T2689T|TRRAP_uc003upr.2_Silent_p.T2406T	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2707	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCGGTCCACGCTGATGTTGG	0.562												
SMURF1	57154	broad.mit.edu	37	7	98649848	98649848	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:98649848G>A	uc003upu.1	-	7	1021	c.701C>T	c.(700-702)CCG>CTG	p.P234L	SMURF1_uc003upv.1_Missense_Mutation_p.P234L|SMURF1_uc003upt.2_Missense_Mutation_p.P234L	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	234	WW 1.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GGGCAGTTCCGGGGACTGGTG	0.502												
MUC17	140453	broad.mit.edu	37	7	100676090	100676090	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:100676090G>A	uc003uxp.1	+	3	1446	c.1393G>A	c.(1393-1395)GCC>ACC	p.A465T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	465	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|5.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTCCAGTGGCCAGTTCTGA	0.488												
CUX1	1523	broad.mit.edu	37	7	101840004	101840004	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:101840004C>T	uc003uyx.3	+	15	1351	c.1313C>T	c.(1312-1314)CCG>CTG	p.P438L	CUX1_uc003uys.3_Missense_Mutation_p.P449L|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	438					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						CCCCGCAACCCGGGGGAGCAG	0.592												
RELN	5649	broad.mit.edu	37	7	103179672	103179672	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:103179672G>A	uc003vca.2	-	45	7193	c.7033C>T	c.(7033-7035)CCC>TCC	p.P2345S	RELN_uc010liz.2_Missense_Mutation_p.P2345S	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2345					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCACACACGGGCATCTTGGTG	0.493												
PUS7	54517	broad.mit.edu	37	7	105135657	105135657	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:105135657G>T	uc003vcx.2	-	6	993	c.774C>A	c.(772-774)TGC>TGA	p.C258*	PUS7_uc010lji.2_Nonsense_Mutation_p.C264*|PUS7_uc003vcy.2_Nonsense_Mutation_p.C258*|PUS7_uc003vcz.1_Nonsense_Mutation_p.C258*	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	258					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						GTACGAAGTGGCAGTAACTTC	0.318												
CTTNBP2	83992	broad.mit.edu	37	7	117432324	117432324	+	Missense_Mutation	SNP	G	G	T	rs151077142		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:117432324G>T	uc003vjf.2	-	4	1018	c.926C>A	c.(925-927)ACA>AAA	p.T309K		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	309										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CACTAGGTCTGTCTGGCATGC	0.453												
AASS	10157	broad.mit.edu	37	7	121755182	121755182	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:121755182G>A	uc003vka.2	-	8	1085	c.989C>T	c.(988-990)GCT>GTT	p.A330V	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.A330V|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	330	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTTGCCCGGAGCCAGGAGACT	0.488												
ZNF800	168850	broad.mit.edu	37	7	127014561	127014561	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:127014561G>A	uc003vlx.1	-	5	1092	c.829C>T	c.(829-831)CGC>TGC	p.R277C	ZNF800_uc003vlw.1_Missense_Mutation_p.R180C|ZNF800_uc003vly.1_Missense_Mutation_p.R277C|ZNF800_uc010lla.2_Missense_Mutation_p.R277C	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCTTACTGCGTCCTTTAGAG	0.368												
FAM40B	57464	broad.mit.edu	37	7	129096467	129096467	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:129096467G>A	uc011koy.1	+	9	1062	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H	FAM40B_uc003vow.2_Missense_Mutation_p.R341H|FAM40B_uc011koz.1_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	341											0						CTGCGAGGCCGCCGTGGCTCT	0.562												
AKR1B15	441282	broad.mit.edu	37	7	134254170	134254170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:134254170G>A	uc011kpr.1	+	5	623	c.324G>A	c.(322-324)TGG>TGA	p.W108*	AKR1B15_uc003vrt.2_Nonsense_Mutation_p.W80*|AKR1B15_uc011kps.1_Nonsense_Mutation_p.W80*	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	108							oxidoreductase activity			ovary(1)	1						TGCAGGTGTGGCCCACTTTCT	0.463												
KIAA1549	57670	broad.mit.edu	37	7	138566238	138566238	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:138566238C>T	uc011kql.1	-	11	4174	c.4125G>A	c.(4123-4125)GCG>GCA	p.A1375A	KIAA1549_uc011kqi.1_Silent_p.A159A|KIAA1549_uc003vuk.3_Silent_p.A1325A|KIAA1549_uc011kqj.1_Silent_p.A1375A|KIAA1549_uc011kqk.1_Silent_p.A159A	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1375						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						CTGGCAGTGGCGCTGGCTCAT	0.507			O	BRAF	pilocytic astrocytoma							
KIAA1549	57670	broad.mit.edu	37	7	138603140	138603140	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:138603140G>A	uc011kql.1	-	2	1281	c.1232C>T	c.(1231-1233)CCG>CTG	p.P411L	KIAA1549_uc003vuk.3_Missense_Mutation_p.P361L|KIAA1549_uc011kqj.1_Missense_Mutation_p.P411L	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	411						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						TGAGGACACCGGGCTCAGGAT	0.542			O	BRAF	pilocytic astrocytoma							
RAB19	401409	broad.mit.edu	37	7	140107546	140107546	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:140107546G>T	uc010lni.2	+	2	298	c.100G>T	c.(100-102)GTG>TTG	p.V34L	RAB19_uc011krc.1_Missense_Mutation_p.V34L	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	34					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0	Melanoma(164;0.0142)					GACGTGTGTGGTGCAGCATTT	0.473												
EPHA1	2041	broad.mit.edu	37	7	143092451	143092451	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:143092451G>T	uc003wcz.2	-	12	2131	c.2044C>A	c.(2044-2046)CAC>AAC	p.H682N		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	682	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATATGCGGGTGGCTAAACTGG	0.547											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC4A2	6522	broad.mit.edu	37	7	150759083	150759083	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:150759083C>T	uc003wit.3	+	2	265	c.9C>T	c.(7-9)AGC>AGT	p.S3S	SLC4A2_uc011kve.1_5'Flank|SLC4A2_uc003wiu.3_5'Flank	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	3	Cytoplasmic (Potential).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCATGAGCAGCGCCCCTCGGC	0.652												
CRYGN	155051	broad.mit.edu	37	7	151135100	151135100	+	Silent	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:151135100G>T	uc003wke.2	-	2	348	c.252C>A	c.(250-252)TCC>TCA	p.S84S	CRYGN_uc003wkf.2_Silent_p.S84S|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	gammaN-crystallin	84	Beta/gamma crystallin 'Greek key' 2.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGCCGACAGGAGCCCATGT	0.622												
NOM1	64434	broad.mit.edu	37	7	156762322	156762322	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:156762322C>T	uc003wmy.2	+	11	2523	c.2508C>T	c.(2506-2508)GAC>GAT	p.D836D		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	836					RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAGCGCCGACGAAGCCAACG	0.527												
MYOM2	9172	broad.mit.edu	37	8	2064029	2064029	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:2064029A>C	uc003wpx.3	+	27	3483	c.3345A>C	c.(3343-3345)GAA>GAC	p.E1115D	MYOM2_uc011kwi.1_Missense_Mutation_p.E540D	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1115					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGTGCTGGAAGAGGCTGAGT	0.378												
CSMD1	64478	broad.mit.edu	37	8	3253820	3253820	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:3253820C>T	uc011kwk.1	-	17	2882	c.2492G>A	c.(2491-2493)GGC>GAC	p.G831D	CSMD1_uc011kwj.1_Missense_Mutation_p.G223D|CSMD1_uc003wqe.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	831	Extracellular (Potential).|CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCCTGGGTGCCGTGGTACTC	0.537												
MCPH1	79648	broad.mit.edu	37	8	6266828	6266828	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:6266828A>G	uc003wqi.2	+	2	119	c.51A>G	c.(49-51)TCA>TCG	p.S17S	MCPH1_uc003wqh.2_Silent_p.S17S|MCPH1_uc011kwl.1_Silent_p.S17S|uc003wqf.2_5'Flank	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	17	BRCT 1.					microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGTGTGGTCATCCAATGGAA	0.368												
SGK223	157285	broad.mit.edu	37	8	8234263	8234263	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:8234263T>C	uc003wsh.3	-	2	1656	c.1656A>G	c.(1654-1656)GTA>GTG	p.V552V		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	552							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						CCGGGGACCCTACAGGGCTAC	0.652												
SGK223	157285	broad.mit.edu	37	8	8234544	8234544	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:8234544G>A	uc003wsh.3	-	2	1375	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	459							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GGGCTGTCCCGGCCCCAGCCA	0.622												
FAM167A	83648	broad.mit.edu	37	8	11282093	11282093	+	Missense_Mutation	SNP	C	C	T	rs145481836	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:11282093C>T	uc010lry.1	-	3	1054	c.434G>A	c.(433-435)CGT>CAT	p.R145H	C8orf12_uc003wtu.2_Intron|C8orf12_uc003wtv.2_Intron|FAM167A_uc003wtw.2_Missense_Mutation_p.R145H	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	hypothetical protein LOC83648	145	Potential.										0						GATGTCGCCACGCAGGCGCAT	0.627												
DLC1	10395	broad.mit.edu	37	8	12957132	12957132	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:12957132T>G	uc003wwm.2	-	9	3158	c.2714A>C	c.(2713-2715)GAG>GCG	p.E905A	DLC1_uc003wwk.1_Missense_Mutation_p.E468A|DLC1_uc003wwl.1_Missense_Mutation_p.E502A|DLC1_uc011kxx.1_Missense_Mutation_p.E394A	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	905					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GTCGTCCAGCTCGGGGAAGAT	0.577												
BMP1	649	broad.mit.edu	37	8	22053003	22053003	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:22053003C>T	uc003xbg.2	+	13	1912	c.1668C>T	c.(1666-1668)CGC>CGT	p.R556R	BMP1_uc003xba.2_Silent_p.R556R|BMP1_uc003xbb.2_Silent_p.R556R|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.R305R|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.R305R|BMP1_uc011kzc.1_Silent_p.R305R|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	556	EGF-like 1; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGCCCAACCGCGGGGGCTGTG	0.637												
TNFRSF10D	8793	broad.mit.edu	37	8	23002133	23002133	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:23002133G>A	uc003xcz.1	-	7	876	c.784C>T	c.(784-786)CGT>TGT	p.R262C		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily,	262	Cytoplasmic (Potential).				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GGACATGAACGCCGCCGGAAA	0.592												
LOXL2	4017	broad.mit.edu	37	8	23198632	23198632	+	Missense_Mutation	SNP	C	C	T	rs140591037		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:23198632C>T	uc003xdh.1	-	4	955	c.616G>A	c.(616-618)GTG>ATG	p.V206M	uc003xdj.2_RNA|uc003xdi.2_RNA	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	206	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTCACCTCCACGTAGCCCTCC	0.577												
PPP2R2A	5520	broad.mit.edu	37	8	26221281	26221281	+	Missense_Mutation	SNP	G	G	A	rs146354435		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:26221281G>A	uc003xeu.2	+	8	1149	c.847G>A	c.(847-849)GAA>AAA	p.E283K	PPP2R2A_uc003xek.2_Missense_Mutation_p.E284K|PPP2R2A_uc011laf.1_Missense_Mutation_p.E293K	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	283	WD 5.				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		ATTTTTTTCCGAAATCATCTC	0.333												
CHRNA2	1135	broad.mit.edu	37	8	27321182	27321182	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:27321182C>T	uc010lur.2	-	6	1387	c.778G>A	c.(778-780)GTC>ATC	p.V260I	CHRNA2_uc011lal.1_Missense_Mutation_p.V245I|CHRNA2_uc010lus.2_Missense_Mutation_p.V62I	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	260	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CGCCGGATGACGAAGGCGTAG	0.612												
KIF13B	23303	broad.mit.edu	37	8	28974486	28974486	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:28974486G>A	uc003xhh.3	-	31	3758	c.3699C>T	c.(3697-3699)GGC>GGT	p.G1233G	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1233					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCTGAGGGCAGCCATGCACCG	0.577												
KIF13B	23303	broad.mit.edu	37	8	29035015	29035015	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:29035015C>T	uc003xhh.3	-	9	860	c.801G>A	c.(799-801)GGG>GGA	p.G267G	KIF13B_uc003xhj.2_Silent_p.G164G|KIF13B_uc010lvf.1_Silent_p.G203G	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	267	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCAGCCTGTCCCCTGCAGCGC	0.438											OREG0018684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BRF2	55290	broad.mit.edu	37	8	37704629	37704629	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:37704629C>T	uc003xkk.2	-	3	389	c.279G>A	c.(277-279)GCG>GCA	p.A93A		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	93	1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			AGTAGGCAACCGCGGTATCCT	0.552												
SLC20A2	6575	broad.mit.edu	37	8	42323320	42323320	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:42323320C>T	uc010lxl.2	-	3	1099	c.405G>A	c.(403-405)GTG>GTA	p.V135V	SLC20A2_uc010lxm.2_Silent_p.V135V|SLC20A2_uc003xpe.2_Silent_p.V135V	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	135	Extracellular (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCATCCACTGCACACCTTTGG	0.408												
PXDNL	137902	broad.mit.edu	37	8	52284448	52284448	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:52284448G>T	uc003xqu.3	-	19	3987	c.3886C>A	c.(3886-3888)CAA>AAA	p.Q1296K	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1296					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)				CAGCAGTCTTGCCACACTCGC	0.468												
ATP6V1H	51606	broad.mit.edu	37	8	54742014	54742014	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:54742014T>A	uc003xrl.2	-	4	448	c.296A>T	c.(295-297)GAT>GTT	p.D99V	ATP6V1H_uc003xrk.2_Missense_Mutation_p.D59V|ATP6V1H_uc003xrm.2_Missense_Mutation_p.D99V|ATP6V1H_uc003xrn.2_Missense_Mutation_p.D99V|ATP6V1H_uc011ldv.1_Missense_Mutation_p.D19V|ATP6V1H_uc010lyd.2_Missense_Mutation_p.D35V	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	99					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CTGCAGCATATCATCCACCAT	0.318												
RP1	6101	broad.mit.edu	37	8	55537789	55537789	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:55537789C>T	uc003xsd.1	+	4	1495	c.1347C>T	c.(1345-1347)CCC>CCT	p.P449P	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	449					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTATAGGCCCCCTACACCTG	0.438												
MOS	4342	broad.mit.edu	37	8	57025637	57025637	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:57025637G>A	uc011leb.1	-	1	905	c.905C>T	c.(904-906)GCC>GTC	p.A302V		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	302	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			CTCGAAGACGGCAGCGGAGAG	0.687												
VCPIP1	80124	broad.mit.edu	37	8	67577678	67577678	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:67577678T>C	uc003xwn.2	-	1	1775	c.1516A>G	c.(1516-1518)AAA>GAA	p.K506E	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	506					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTGTAATTTTTGTCAGTCCTC	0.423												
SLCO5A1	81796	broad.mit.edu	37	8	70617426	70617426	+	Missense_Mutation	SNP	G	G	T	rs138620020		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:70617426G>T	uc003xyl.2	-	6	2169	c.1462C>A	c.(1462-1464)CTC>ATC	p.L488I	SLCO5A1_uc010lzb.2_Missense_Mutation_p.L433I|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.L488I|SLCO5A1_uc010lzc.2_Missense_Mutation_p.L433I	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	488	Helical; Name=8; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAGCCTCCGAGGACAATACCA	0.398												
GDAP1	54332	broad.mit.edu	37	8	75276270	75276270	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:75276270G>A	uc003yah.2	+	6	824	c.745G>A	c.(745-747)GTC>ATC	p.V249I	GDAP1_uc011lfj.1_Missense_Mutation_p.V134I|GDAP1_uc003yai.2_Missense_Mutation_p.V181I	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	ganglioside-induced differentiation-associated	249	GST C-terminal.					cytoplasm					0	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CCTGGCAGACGTCTCACTCGC	0.502												
RBM12B	389677	broad.mit.edu	37	8	94746562	94746562	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:94746562G>A	uc003yfz.2	-	3	2270	c.2077C>T	c.(2077-2079)CGA>TGA	p.R693*		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	693							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCGGGTGGTCGCCTCCATTCT	0.627												
INTS8	55656	broad.mit.edu	37	8	95837172	95837172	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:95837172C>A	uc003yhb.2	+	2	308	c.182C>A	c.(181-183)CCT>CAT	p.P61H	INTS8_uc003yha.1_Missense_Mutation_p.P61H|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	61					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					GCTTCCAAACCTTCAGTTAAT	0.328												
KCNS2	3788	broad.mit.edu	37	8	99440481	99440481	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:99440481G>A	uc003yin.2	+	2	624	c.274G>A	c.(274-276)GTC>ATC	p.V92I		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	92	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CAAGCTTCACGTCATGGCTGA	0.547												
RRM2B	50484	broad.mit.edu	37	8	103220371	103220371	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:103220371G>A	uc003ykn.2	-	9	1290	c.1046C>T	c.(1045-1047)GCA>GTA	p.A349V	RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.A297V|RRM2B_uc010mbw.1_Missense_Mutation_p.A137V|RRM2B_uc010mbx.1_RNA|RRM2B_uc010mby.1_RNA	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	349					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			ovary(2)	2	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			TTAAAAATCTGCATCCAAGGT	0.308								Direct_reversal_of_damage|Modulation_of_nucleotide_pools				
UBR5	51366	broad.mit.edu	37	8	103289205	103289205	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:103289205A>G	uc003ykr.1	-	45	6537	c.6504T>C	c.(6502-6504)TCT>TCC	p.S2168S	UBR5_uc003yks.1_Silent_p.S2168S	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2168					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATACCTGAAAGATGTGAGAG	0.378												
AZIN1	51582	broad.mit.edu	37	8	103855874	103855874	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:103855874C>A	uc003ykx.2	-	4	749	c.7G>T	c.(7-9)GGA>TGA	p.G3*	AZIN1_uc003yky.2_Nonsense_Mutation_p.G3*	NM_015878	NP_056962	O14977	AZIN1_HUMAN	ornithine decarboxylase antizyme inhibitor	3					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding				0	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			TCAATAAATCCTTTCATCTCA	0.418												
LRP12	29967	broad.mit.edu	37	8	105503269	105503269	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:105503269G>A	uc003yma.2	-	7	2307	c.2212C>T	c.(2212-2214)CGC>TGC	p.R738C	LRP12_uc003ymb.2_Missense_Mutation_p.R719C|LRP12_uc003ylz.2_Missense_Mutation_p.R144C	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	738	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGTACCCAGCGTAGCCCCTGA	0.478												
EFR3A	23167	broad.mit.edu	37	8	133015532	133015532	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:133015532G>A	uc003yte.2	+	22	2561	c.2360G>A	c.(2359-2361)CGT>CAT	p.R787H		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	787						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CTCACCATACGGTAAGGGTTT	0.328												
KCNK9	51305	broad.mit.edu	37	8	140631097	140631097	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:140631097C>T	uc003yvf.1	-	2	593	c.529G>A	c.(529-531)GCC>ACC	p.A177T	KCNK9_uc003yvg.1_Missense_Mutation_p.A177T|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	177	Helical; (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TGGGAGAAGGCGGCCGCCCCG	0.572												
EPPK1	83481	broad.mit.edu	37	8	144945087	144945087	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:144945087G>T	uc003zaa.1	-	1	2348	c.2335C>A	c.(2335-2337)CTG>ATG	p.L779M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	779	Plectin 15.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAAGCTGCAGGTACGTGAGG	0.617												
PLEC	5339	broad.mit.edu	37	8	144999695	144999695	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:144999695G>A	uc003zaf.1	-	31	4983	c.4813C>T	c.(4813-4815)CGT>TGT	p.R1605C	PLEC_uc003zab.1_Missense_Mutation_p.R1468C|PLEC_uc003zac.1_Missense_Mutation_p.R1472C|PLEC_uc003zad.2_Missense_Mutation_p.R1468C|PLEC_uc003zae.1_Missense_Mutation_p.R1436C|PLEC_uc003zag.1_Missense_Mutation_p.R1446C|PLEC_uc003zah.2_Missense_Mutation_p.R1454C|PLEC_uc003zaj.2_Missense_Mutation_p.R1495C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1605	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCCCCGCCACGCTGGCGCTCG	0.731												
SLC39A4	55630	broad.mit.edu	37	8	145638296	145638296	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:145638296G>A	uc003zcq.2	-	11	1762	c.1662C>T	c.(1660-1662)TCC>TCT	p.S554S	SLC39A4_uc003zcm.1_Silent_p.S56S|SLC39A4_uc003zcn.2_Silent_p.S56S|SLC39A4_uc003zco.2_Silent_p.S278S|SLC39A4_uc003zcp.2_Silent_p.S529S	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	554	Cytoplasmic (Potential).					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CTTGGCGCACGGACAGCCCCG	0.672												
KIAA0020	9933	broad.mit.edu	37	9	2829847	2829847	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:2829847T>C	uc003zhp.1	-	8	875	c.779A>G	c.(778-780)AAT>AGT	p.N260S	KIAA0020_uc010mhc.1_Missense_Mutation_p.N259S|KIAA0020_uc003zhq.1_Missense_Mutation_p.N259S	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	260	Pumilio 3.|PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		GGCTTTGTCATTGTATGCGTA	0.458												
RFX3	5991	broad.mit.edu	37	9	3225156	3225156	+	Silent	SNP	G	G	A	rs113424988		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:3225156G>A	uc003zhr.2	-	18	2448	c.2136C>T	c.(2134-2136)CTC>CTT	p.L712L	RFX3_uc010mhd.2_Silent_p.L712L	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	712					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CGCCAGTCTCGAGAACAGGCT	0.498												
GLIS3	169792	broad.mit.edu	37	9	4118080	4118080	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:4118080C>T	uc003zhw.1	-	3	1127	c.933G>A	c.(931-933)GCG>GCA	p.A311A	GLIS3_uc003zhx.1_Silent_p.A466A|GLIS3_uc003zic.1_Silent_p.A466A|GLIS3_uc003zie.1_Silent_p.A466A|GLIS3_uc010mhh.1_Silent_p.A341A|GLIS3_uc003zid.1_Silent_p.A244A|GLIS3_uc010mhi.1_Silent_p.A273A|GLIS3_uc003zif.1_Silent_p.A244A|GLIS3_uc003zig.1_Silent_p.A310A|GLIS3_uc003zih.1_Silent_p.A244A|GLIS3_uc003zhy.1_Silent_p.A244A|GLIS3_uc003zhz.1_Silent_p.A244A|GLIS3_uc003zib.1_Silent_p.A310A|GLIS3_uc010mhg.1_Silent_p.A244A	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	311					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGTGAAGGTGCGCATGGGCAT	0.507												
JAK2	3717	broad.mit.edu	37	9	5072572	5072572	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:5072572T>C	uc010mhm.2	+	12	1835	c.1722T>C	c.(1720-1722)CAT>CAC	p.H574H	JAK2_uc003ziw.2_Silent_p.H574H	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	574	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GTCAACTGCATGAAACAGAAG	0.353		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial			
MPDZ	8777	broad.mit.edu	37	9	13150616	13150616	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:13150616C>T	uc010mia.1	-	24	3581	c.3524G>A	c.(3523-3525)CGG>CAG	p.R1175Q	MPDZ_uc010mhx.2_Missense_Mutation_p.R67Q|MPDZ_uc011lmm.1_Missense_Mutation_p.R67Q|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Missense_Mutation_p.R1175Q|MPDZ_uc010mhz.2_Missense_Mutation_p.R1175Q|MPDZ_uc011lmn.1_Missense_Mutation_p.R1175Q|MPDZ_uc003zlb.3_Missense_Mutation_p.R1175Q	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1175	PDZ 7.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ATTGCTTAGCCGACTCCCCAT	0.418												
FREM1	158326	broad.mit.edu	37	9	14813042	14813042	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:14813042C>T	uc003zlm.2	-	16	3251	c.2661G>A	c.(2659-2661)GAG>GAA	p.E887E	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	887	CSPG 6.				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)		AGACTGGTGGCTCATCGTTGA	0.418												
IFNA13	3447	broad.mit.edu	37	9	21367455	21367455	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:21367455T>C	uc003zpa.2	-	1	621	c.555A>G	c.(553-555)AGA>AGG	p.R185R		NM_006900	NP_008831	P01562	IFNA1_HUMAN	interferon, alpha 13 precursor	184					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			ovary(1)	1				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		TCCTCCTTAATCTTTCTTGCA	0.413												
TLN1	7094	broad.mit.edu	37	9	35713993	35713993	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:35713993G>A	uc003zxt.2	-	25	3560	c.3206C>T	c.(3205-3207)GCA>GTA	p.A1069V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1069					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCGAGCTGCTGCCTTCACTTC	0.453												
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478												
TRPM3	80036	broad.mit.edu	37	9	73233803	73233803	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:73233803G>A	uc004aid.2	-	16	2546	c.2302C>T	c.(2302-2304)CGC>TGC	p.R768C	TRPM3_uc004ahu.2_Missense_Mutation_p.R598C|TRPM3_uc004ahv.2_Missense_Mutation_p.R570C|TRPM3_uc004ahw.2_Missense_Mutation_p.R640C|TRPM3_uc004ahx.2_Missense_Mutation_p.R627C|TRPM3_uc004ahy.2_Missense_Mutation_p.R630C|TRPM3_uc004ahz.2_Missense_Mutation_p.R617C|TRPM3_uc004aia.2_Missense_Mutation_p.R615C|TRPM3_uc004aib.2_Missense_Mutation_p.R605C|TRPM3_uc004aic.2_Missense_Mutation_p.R768C	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	793	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GAGTTCTTGCGCATGCGGAGC	0.622												
GNAQ	2776	broad.mit.edu	37	9	80336284	80336284	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:80336284C>A	uc004akw.2	-	7	1076	c.1035G>T	c.(1033-1035)AAG>AAT	p.K345N	GNAQ_uc011lso.1_Missense_Mutation_p.K143N|GNAQ_uc004akv.1_5'Flank	NM_002072	NP_002063	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein),	345					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			eye(136)|skin(44)|meninges(11)|ovary(1)|kidney(1)	193						GGATGGTGTCCTTGACGGCAG	0.517			Mis		uveal melanoma							
CDK20	23552	broad.mit.edu	37	9	90585494	90585494	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:90585494G>A	uc004apr.2	-	5	858	c.552C>T	c.(550-552)GGC>GGT	p.G184G	CDK20_uc004aps.2_Intron|CDK20_uc004apt.2_Intron|CDK20_uc004apu.2_Intron	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3	184	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						ACAGATCGACGCCCTGGTCAT	0.592												
ASPN	54829	broad.mit.edu	37	9	95228784	95228784	+	Nonsense_Mutation	SNP	G	G	A	rs143358512	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:95228784G>A	uc004ase.1	-	4	701	c.457C>T	c.(457-459)CGA>TGA	p.R153*	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_Nonsense_Mutation_p.R153*	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	asporin precursor	153	LRR 3.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding				0						TACAGCCTTCGCAACTTCTTT	0.358												
ANKS6	203286	broad.mit.edu	37	9	101552769	101552769	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:101552769A>G	uc004ayu.2	-	2	500	c.479T>C	c.(478-480)GTG>GCG	p.V160A	ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	160	ANK 4.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				GAGCAGCTTCACCACACCCAG	0.637												
IKBKAP	8518	broad.mit.edu	37	9	111644449	111644449	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:111644449G>T	uc004bdm.3	-	30	3761	c.3241C>A	c.(3241-3243)CTC>ATC	p.L1081I	IKBKAP_uc004bdl.2_Missense_Mutation_p.L732I|IKBKAP_uc011lwc.1_Missense_Mutation_p.L967I|IKBKAP_uc010mtq.2_Missense_Mutation_p.L732I|IKBKAP_uc004bdk.2_Missense_Mutation_p.L85I|IKBKAP_uc010mtp.2_RNA	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	1081					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						AACAGCAAGAGCACAGCTTCT	0.458												
CTNNAL1	8727	broad.mit.edu	37	9	111746708	111746708	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:111746708T>A	uc004bdo.1	-	5	690	c.648A>T	c.(646-648)AAA>AAT	p.K216N	CTNNAL1_uc010mts.1_5'Flank|CTNNAL1_uc010mtt.1_Missense_Mutation_p.K216N|CTNNAL1_uc004bdp.1_Missense_Mutation_p.K216N	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	216					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		TCTTTTCATCTTTCAAATCCT	0.333												
RGS3	5998	broad.mit.edu	37	9	116269637	116269637	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:116269637G>A	uc004bhq.2	+	14	1365	c.1156G>A	c.(1156-1158)GGG>AGG	p.G386R	RGS3_uc004bhr.2_Missense_Mutation_p.G274R|RGS3_uc004bhs.2_Missense_Mutation_p.G276R|RGS3_uc004bht.2_Missense_Mutation_p.G105R|RGS3_uc010muy.2_Missense_Mutation_p.G105R|RGS3_uc004bhu.2_Missense_Mutation_p.G12R	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	386					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						ACCAGATGGCGGGGTCCTGCG	0.632												
C9orf91	203197	broad.mit.edu	37	9	117405501	117405501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:117405501C>T	uc004bjd.3	+	9	1154	c.937C>T	c.(937-939)CGA>TGA	p.R313*	C9orf91_uc004bje.3_Nonsense_Mutation_p.R292*|C9orf91_uc004bjf.3_Nonsense_Mutation_p.R212*	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN	hypothetical protein LOC203197	313						integral to membrane				pancreas(1)	1						AATGGGGACACGACACACGAA	0.597												
TNC	3371	broad.mit.edu	37	9	117846648	117846648	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:117846648C>T	uc004bjj.3	-	4	2333	c.1971G>A	c.(1969-1971)ACG>ACA	p.T657T	TNC_uc010mvf.2_Silent_p.T657T	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	657	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CGTGGGTGGGCGTGTACACGA	0.577												
OR1J4	26219	broad.mit.edu	37	9	125281745	125281745	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:125281745A>G	uc011lyw.1	+	1	326	c.326A>G	c.(325-327)GAT>GGT	p.D109G		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTTTTCACTGATCTAGACAAT	0.418												
LHX2	9355	broad.mit.edu	37	9	126783526	126783526	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:126783526C>T	uc004boe.1	+	4	1615	c.876C>T	c.(874-876)GAC>GAT	p.D292D	LHX2_uc010mwi.1_Silent_p.D300D	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	292	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ACAACCCCGACGCCAAGGACT	0.607												
LRSAM1	90678	broad.mit.edu	37	9	130223460	130223460	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:130223460C>T	uc004brb.1	+	8	675	c.330C>T	c.(328-330)AAC>AAT	p.N110N	LRSAM1_uc010mxk.1_Silent_p.N110N|LRSAM1_uc004brc.1_Silent_p.N110N|LRSAM1_uc004brd.1_Silent_p.N110N	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	110	LRR 4.				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0						AGGTCTTAAACGTGGAAAGGA	0.323												
C9orf119	375757	broad.mit.edu	37	9	131038608	131038608	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:131038608C>T	uc004bup.2	+	1	184	c.184C>T	c.(184-186)CCG>TCG	p.P62S	GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.P62S	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	hypothetical protein LOC375757	62					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0						AGGTCGCTCTCCGACTCCCGC	0.682												
FAM73B	84895	broad.mit.edu	37	9	131830576	131830576	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:131830576C>T	uc004bxa.2	+	13	1555	c.1369C>T	c.(1369-1371)CGG>TGG	p.R457W	FAM73B_uc004bwy.2_RNA|FAM73B_uc004bwz.2_RNA|FAM73B_uc011mbn.1_Missense_Mutation_p.R457W|FAM73B_uc004bxb.2_5'Flank	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	hypothetical protein LOC84895	457						integral to membrane				skin(1)	1						CGCCGTCCTGCGGAACCGCTG	0.617												
CRAT	1384	broad.mit.edu	37	9	131862207	131862207	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:131862207G>A	uc004bxh.2	-	8	1305	c.1023C>T	c.(1021-1023)TAC>TAT	p.Y341Y	CRAT_uc004bxg.2_Silent_p.Y320Y|CRAT_uc004bxk.3_Silent_p.Y320Y	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	341					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CAGCATGCTCGTACACAAGCC	0.607												
USP20	10868	broad.mit.edu	37	9	132630616	132630616	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:132630616G>A	uc004bys.2	+	11	1234	c.1023G>A	c.(1021-1023)TCG>TCA	p.S341S	USP20_uc004byr.2_Silent_p.S341S|USP20_uc004byt.1_Silent_p.S341S	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	341					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				GTACAAACTCGGAGCAAGTGG	0.652												
GTF3C4	9329	broad.mit.edu	37	9	135553410	135553410	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:135553410C>T	uc010mzv.2	+	2	662	c.404C>T	c.(403-405)GCC>GTC	p.A135V	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	135					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AAATTCGCCGCCTCCAAGGAC	0.463												
MED22	6837	broad.mit.edu	37	9	136208458	136208458	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:136208458G>A	uc004cdc.2	-	5	734	c.500C>T	c.(499-501)TCG>TTG	p.S167L	MED22_uc004cdd.2_3'UTR	NM_133640	NP_598395	Q15528	MED22_HUMAN	mediator complex subunit 22 isoform b	167					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CAGAGGGGCCGAGAGGCCATC	0.657												
SNAPC4	6621	broad.mit.edu	37	9	139272011	139272011	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:139272011G>T	uc004chh.2	-	21	4277	c.4268C>A	c.(4267-4269)GCC>GAC	p.A1423D		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1423					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGGGCATGTGGCTGTCGTGCA	0.672												
SNAPC4	6621	broad.mit.edu	37	9	139287157	139287157	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:139287157G>A	uc004chh.2	-	7	714	c.705C>T	c.(703-705)GGC>GGT	p.G235G		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	235					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGGCTTCCCTGCCCTGCTTCT	0.627												
SEC16A	9919	broad.mit.edu	37	9	139358902	139358902	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:139358902C>T	uc004chx.2	-	9	4725	c.4416G>A	c.(4414-4416)CAG>CAA	p.Q1472Q	SEC16A_uc004chv.3_Silent_p.Q862Q|SEC16A_uc004chw.2_Silent_p.Q1472Q|SEC16A_uc010nbn.2_Silent_p.Q1472Q	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1294					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCAAGGCCGGCTGTCCTTCTG	0.542												
FAM69B	138311	broad.mit.edu	37	9	139612048	139612048	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:139612048G>A	uc004cik.2	+	2	177	c.83G>A	c.(82-84)AGG>AAG	p.R28K		NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	28	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CCAGGCCTCAGGGTCCGCTGC	0.677												
ABCA2	20	broad.mit.edu	37	9	139907311	139907311	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:139907311G>A	uc011mem.1	-	30	5079	c.4931C>T	c.(4930-4932)GCG>GTG	p.A1644V	ABCA2_uc011mel.1_Missense_Mutation_p.A1645V|ABCA2_uc004ckl.1_Missense_Mutation_p.A1575V|ABCA2_uc004ckm.1_Missense_Mutation_p.A1675V|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1644					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGTGCCCTGCGCAGAGCAGGT	0.687												
ARRDC1	92714	broad.mit.edu	37	9	140508544	140508544	+	Missense_Mutation	SNP	G	G	A	rs146599172		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:140508544G>A	uc004cns.2	+	5	570	c.496G>A	c.(496-498)GTG>ATG	p.V166M	ARRDC1_uc004cnt.2_Missense_Mutation_p.V41M|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.V146M|ARRDC1_uc004cnw.2_Missense_Mutation_p.V41M|ARRDC1_uc004cnp.1_Missense_Mutation_p.V166M|ARRDC1_uc004cnq.1_Missense_Mutation_p.V148M|ARRDC1_uc011mfb.1_Missense_Mutation_p.V41M|ARRDC1_uc004cnx.1_Missense_Mutation_p.V41M|ARRDC1_uc004cny.2_RNA	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	166											0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		GACGGGCAGCGTGGTCCTCAC	0.637												
P2RY8	286530	broad.mit.edu	37	X	1584880	1584880	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:1584880G>A	uc004cpz.2	-	2	820	c.572C>T	c.(571-573)GCC>GTC	p.A191V		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	191	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGGAACACGGCCCACATGGC	0.612			T	CRLF2	B-ALL|Downs associated ALL							
NLGN4X	57502	broad.mit.edu	37	X	5821701	5821701	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:5821701A>T	uc010ndh.2	-	5	1519	c.1018T>A	c.(1018-1020)TTC>ATC	p.F340I	NLGN4X_uc004crp.2_Missense_Mutation_p.F360I|NLGN4X_uc004crq.2_Missense_Mutation_p.F340I|NLGN4X_uc010ndi.2_Missense_Mutation_p.F377I|NLGN4X_uc004crr.2_Missense_Mutation_p.F340I|NLGN4X_uc010ndj.2_Missense_Mutation_p.F340I	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	340	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						ACCGGCCCGAAGGCTATGTGG	0.582												
WWC3	55841	broad.mit.edu	37	X	10077877	10077877	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:10077877C>T	uc004csx.3	+	9	989	c.791C>T	c.(790-792)GCC>GTC	p.A264V	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	264	Potential.									ovary(4)	4						CCAAGCACGGCCGAGGCTGAC	0.617												
TLR8	51311	broad.mit.edu	37	X	12939421	12939421	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:12939421C>T	uc004cve.2	+	2	2330	c.2262C>T	c.(2260-2262)TCC>TCT	p.S754S	TLR8_uc004cvd.2_Silent_p.S772S	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	754	LRR 23.|Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						TCAACAAATCCGCACTTGAAA	0.423												
GRPR	2925	broad.mit.edu	37	X	16142438	16142438	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:16142438T>C	uc004cxj.2	+	1	1015	c.362T>C	c.(361-363)CTT>CCT	p.L121P		NM_005314	NP_005305	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	121	Helical; Name=3; (Potential).				cell proliferation	integral to plasma membrane	bombesin receptor activity			ovary(3)|lung(1)	4	Hepatocellular(33;0.183)					TTTATACAGCTTACCTCTGTT	0.527											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CTPS2	56474	broad.mit.edu	37	X	16717193	16717193	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:16717193C>T	uc004cxk.2	-	3	934	c.190G>A	c.(190-192)GGT>AGT	p.G64S	CTPS2_uc004cxl.2_Missense_Mutation_p.G64S|CTPS2_uc004cxm.2_Missense_Mutation_p.G64S	NM_001144002	NP_001137474	Q9NRF8	PYRG2_HUMAN	cytidine triphosphate synthase II	64					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			ovary(1)	1	Hepatocellular(33;0.0997)					ACTTCTCCACCATCATTTAAG	0.313												
SYAP1	94056	broad.mit.edu	37	X	16778386	16778386	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:16778386G>T	uc004cxp.2	+	9	1056	c.963G>T	c.(961-963)CAG>CAT	p.Q321H	SYAP1_uc004cxo.2_Missense_Mutation_p.A321S|SYAP1_uc011miv.1_Missense_Mutation_p.Q287H	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN	SYAP1 protein	321										skin(1)	1	Hepatocellular(33;0.0997)					AAGAACTGCAGCAGGAACTTC	0.373												
SH3KBP1	30011	broad.mit.edu	37	X	19610206	19610206	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:19610206G>A	uc004czm.2	-	11	1433	c.1117C>T	c.(1117-1119)CCA>TCA	p.P373S	SH3KBP1_uc011mje.1_Missense_Mutation_p.P112S|SH3KBP1_uc011mjf.1_Missense_Mutation_p.P135S|SH3KBP1_uc004czl.2_Missense_Mutation_p.P336S	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	373	Pro-rich.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						GTTCTGTTTGGAAGCATTTCT	0.408												
PTCHD1	139411	broad.mit.edu	37	X	23397938	23397938	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:23397938C>T	uc004dal.3	+	2	590	c.582C>T	c.(580-582)GGC>GGT	p.G194G	PTCHD1_uc010nfu.1_Silent_p.G194G	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	194					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						AGCTTGGGGGCGTCACTGTGC	0.527												
ZFX	7543	broad.mit.edu	37	X	24226349	24226349	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:24226349G>A	uc004dbf.2	+	7	1213	c.955G>A	c.(955-957)GCT>ACT	p.A319T	ZFX_uc004dbd.1_Missense_Mutation_p.A319T|ZFX_uc010nfx.1_Missense_Mutation_p.A90T|ZFX_uc004dbe.2_Missense_Mutation_p.A319T|ZFX_uc011mjv.1_Missense_Mutation_p.A358T|ZFX_uc010nfy.1_Intron|ZFX_uc010nfz.2_Missense_Mutation_p.A22T	NM_003410	NP_003401	P17010	ZFX_HUMAN	zinc finger protein, X-linked	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(2)	2						TGCTGAAATCGCTGACGAAGT	0.438												
DCAF8L1	139425	broad.mit.edu	37	X	27999217	27999217	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:27999217C>T	uc004dbx.1	-	1	350	c.235G>A	c.(235-237)GTC>ATC	p.V79I		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	79	Glu-rich.									ovary(3)|skin(1)	4						TCAAGTTCGACGTCTTCACTT	0.393												
DMD	1756	broad.mit.edu	37	X	31986498	31986498	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:31986498C>T	uc004dda.1	-	45	6816	c.6572G>A	c.(6571-6573)CGG>CAG	p.R2191Q	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.R847Q|DMD_uc004dcx.2_Missense_Mutation_p.R850Q|DMD_uc004dcz.2_Missense_Mutation_p.R2068Q|DMD_uc004dcy.1_Missense_Mutation_p.R2187Q|DMD_uc004ddb.1_Missense_Mutation_p.R2183Q|DMD_uc010ngo.1_Missense_Mutation_p.R100Q|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2191	Spectrin 15.		R -> W.		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)				CTCCTGCCACCGCAGATTCAG	0.408												
DMD	1756	broad.mit.edu	37	X	32481587	32481587	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:32481587A>C	uc004dda.1	-	25	3645	c.3401T>G	c.(3400-3402)CTT>CGT	p.L1134R	DMD_uc004dcz.2_Missense_Mutation_p.L1011R|DMD_uc004dcy.1_Missense_Mutation_p.L1130R|DMD_uc004ddb.1_Missense_Mutation_p.L1126R|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1134	Spectrin 7.				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)				CTGAGTGTTAAGTTCTTTGAG	0.433												
CYBB	1536	broad.mit.edu	37	X	37655252	37655252	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:37655252A>G	uc004ddr.2	+	6	593	c.532A>G	c.(532-534)ACT>GCT	p.T178A	CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.T146A|CYBB_uc011mkg.1_Intron	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	178	Helical; (Potential).|Ferric oxidoreductase.		T -> P (in AMCBX2).		electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						GGCAGGCATCACTGGAGTTGT	0.368												
MED14	9282	broad.mit.edu	37	X	40522275	40522275	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:40522275G>A	uc004dex.3	-	26	3726	c.3586C>T	c.(3586-3588)CCC>TCC	p.P1196S	MED14_uc004dey.1_Missense_Mutation_p.P98S	NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	1196					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						GCCAGGCCGGGCACAAGGCCT	0.488												
ZNF674	641339	broad.mit.edu	37	X	46387797	46387797	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:46387797G>A	uc004dgr.2	-	5	453	c.226C>T	c.(226-228)CGG>TGG	p.R76W	ZNF674_uc011mlg.1_Missense_Mutation_p.R76W|ZNF674_uc010nhm.2_Missense_Mutation_p.R76W	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	zinc finger family member 674 isoform 1	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						GCACAGGTCCGTACCGGGGTC	0.587												
TBC1D25	4943	broad.mit.edu	37	X	48417659	48417659	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:48417659C>T	uc004dka.1	+	5	741	c.630C>T	c.(628-630)CAC>CAT	p.H210H	TBC1D25_uc011mly.1_Silent_p.H152H|TBC1D25_uc004dkb.1_Translation_Start_Site|TBC1D25_uc011mlz.1_Translation_Start_Site|TBC1D25_uc011mma.1_Translation_Start_Site|TBC1D25_uc004dkc.1_Translation_Start_Site|TBC1D25_uc011mmb.1_Silent_p.H214H|TBC1D25_uc011mmc.1_Translation_Start_Site|TBC1D25_uc011mmd.1_Translation_Start_Site	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	210						intracellular	Rab GTPase activator activity			ovary(1)	1						ACCTGAACCACGAGGGCCAGC	0.582												
HDAC6	10013	broad.mit.edu	37	X	48674553	48674553	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:48674553A>G	uc011mmi.1	+	18	1594	c.1499A>G	c.(1498-1500)CAC>CGC	p.H500R	HDAC6_uc004dks.1_Missense_Mutation_p.H500R|HDAC6_uc010nig.1_Missense_Mutation_p.H348R|HDAC6_uc004dkt.1_Missense_Mutation_p.H500R|HDAC6_uc011mmk.1_Missense_Mutation_p.H481R|HDAC6_uc004dkv.1_Missense_Mutation_p.H148R|HDAC6_uc004dkw.1_Missense_Mutation_p.H148R	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	500	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	GCTAGCCACCACCCTGAGGTA	0.647												
PQBP1	10084	broad.mit.edu	37	X	48759692	48759692	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:48759692C>T	uc004dle.2	+	5	664	c.475C>T	c.(475-477)CGG>TGG	p.R159W	PQBP1_uc004dlf.2_Missense_Mutation_p.R159W|PQBP1_uc004dlg.2_Missense_Mutation_p.R159W|PQBP1_uc004dld.2_Intron|PQBP1_uc004dlh.2_Missense_Mutation_p.R159W|PQBP1_uc004dli.2_Missense_Mutation_p.R159W|PQBP1_uc004dlj.1_Missense_Mutation_p.R159W|PQBP1_uc004dln.2_Missense_Mutation_p.R159W|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_Missense_Mutation_p.R117W|PQBP1_uc004dlk.2_Intron|PQBP1_uc004dll.2_Intron|PQBP1_uc004dlm.2_Missense_Mutation_p.R117W|PQBP1_uc010nij.2_Intron	NM_001032382	NP_001027554	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	159	3-5.|Arg-rich.|7 X 2 AA tandem repeats of [DE]-R.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			large_intestine(1)	1						AGACAGGGAACGGGATCGGGA	0.617												
WDR45	11152	broad.mit.edu	37	X	48933234	48933234	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:48933234C>T	uc004dmk.1	-	8	867	c.695G>A	c.(694-696)CGC>CAC	p.R232H	PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Missense_Mutation_p.R130H|WDR45_uc004dmj.1_Missense_Mutation_p.R193H|WDR45_uc004dml.1_Missense_Mutation_p.R233H|WDR45_uc004dmm.1_Missense_Mutation_p.R197H|WDR45_uc010nim.1_Missense_Mutation_p.R232H|WDR45_uc004dmn.1_Missense_Mutation_p.R123H|WDR45_uc004dmo.1_Missense_Mutation_p.R255H|WDR45_uc004dmp.1_Missense_Mutation_p.R233H	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN	WD repeat domain 45 isoform 2	232					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1						AGTGCCTCGGCGCAGCTCCAC	0.567												
GPKOW	27238	broad.mit.edu	37	X	48973467	48973467	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:48973467A>G	uc004dmr.2	-	6	837	c.830T>C	c.(829-831)GTG>GCG	p.V277A		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	277						nucleus	nucleic acid binding			ovary(2)	2						CCGGCTCCCCACAGCCAGACG	0.552												
DGKK	139189	broad.mit.edu	37	X	50136226	50136226	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:50136226C>T	uc010njr.1	-	9	1579	c.1519G>A	c.(1519-1521)GTC>ATC	p.V507I		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	507	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					CGGAGGAAGACGATCCCCTGA	0.453												
KDM5C	8242	broad.mit.edu	37	X	53240993	53240993	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:53240993A>G	uc004drz.2	-	9	1751	c.1218T>C	c.(1216-1218)GCT>GCC	p.A406A	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Silent_p.A339A|KDM5C_uc004dsa.2_Silent_p.A405A	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	406					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						TGAAGTAGTCAGCTTTAAAGG	0.537			N|F|S		clear cell renal carcinoma							
IQSEC2	23096	broad.mit.edu	37	X	53279577	53279577	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:53279577G>A	uc004dsd.2	-	5	2382	c.2181C>T	c.(2179-2181)ACC>ACT	p.T727T	IQSEC2_uc004dsc.2_Silent_p.T522T	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	717					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						TGCACAGGCCGGTAGCCGGAG	0.577												
FAM120C	54954	broad.mit.edu	37	X	54209257	54209257	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:54209257C>T	uc004dsz.3	-	1	458	c.375G>A	c.(373-375)GCG>GCA	p.A125A	FAM120C_uc011moh.1_Silent_p.A125A|FAM120C_uc004dta.2_Silent_p.A125A	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	125										ovary(1)|central_nervous_system(1)	2						GCCGCGGCAGCGCCGAGCCGG	0.721												
PFKFB1	5207	broad.mit.edu	37	X	54986275	54986275	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:54986275C>T	uc004dty.1	-	4	440	c.369G>A	c.(367-369)GAG>GAA	p.E123E	PFKFB1_uc010nkd.1_Silent_p.E109E|PFKFB1_uc011mol.1_Silent_p.E58E	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	123	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						CATGACCTTCCTCATGGCTGA	0.378												
ALAS2	212	broad.mit.edu	37	X	55042055	55042055	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:55042055C>T	uc004dua.3	-	8	1262	c.1124G>A	c.(1123-1125)CGT>CAT	p.R375H	ALAS2_uc004dub.3_Missense_Mutation_p.R362H|ALAS2_uc004dud.3_Missense_Mutation_p.R338H	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	375					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	AATTCCATCACGCTCCCCAAT	0.517												
ALAS2	212	broad.mit.edu	37	X	55052394	55052394	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:55052394G>A	uc004dua.3	-	2	178	c.40C>T	c.(40-42)CTT>TTT	p.L14F	ALAS2_uc004dub.3_Missense_Mutation_p.L38F|ALAS2_uc004dud.3_Missense_Mutation_p.L14F	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	14					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	CCCCGGGCAAGCACTGGGCAG	0.557												
USP51	158880	broad.mit.edu	37	X	55515175	55515175	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:55515175G>A	uc004dun.1	-	2	277	c.198C>T	c.(196-198)CCC>CCT	p.P66P	USP51_uc011moo.1_Silent_p.P11P	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	66					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CCTCCGGCGCGGGCTCACGCT	0.647												
MSN	4478	broad.mit.edu	37	X	64887722	64887722	+	Splice_Site	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:64887722T>C	uc004dwf.2	+	1	210	c.12_splice	c.e1+2	p.T4_splice		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin						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						CCCAAAACGGTGAGTGCCGGA	0.642			T	ALK	ALCL							
RAB41	347517	broad.mit.edu	37	X	69502190	69502190	+	Silent	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:69502190C>T	uc004dyc.2	+	1	123	c.123C>T	c.(121-123)AGC>AGT	p.S41S	RAB41_uc010nkv.2_Silent_p.S31S	NM_001032726	NP_001027898	Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	41	GTP (By similarity).				protein transport|small GTPase mediated signal transduction		GTP binding			ovary(2)|breast(2)	4						GAGAGCAGAGCGGTGTGGGTC	0.552												
SLC7A3	84889	broad.mit.edu	37	X	70149828	70149828	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:70149828C>T	uc004dyn.2	-	2	178	c.20G>A	c.(19-21)CGC>CAC	p.R7H	SLC7A3_uc004dyo.2_Missense_Mutation_p.R7H	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	7	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACCAAATCTGCGAAATGCTTG	0.502												
FOXO4	4303	broad.mit.edu	37	X	70316714	70316714	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:70316714G>T	uc004dys.1	+	1	689	c.336G>T	c.(334-336)CAG>CAT	p.Q112H	FOXO4_uc010nkz.2_Missense_Mutation_p.Q112H|FOXO4_uc004dyt.1_Splice_Site_p.A58_splice	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	112	Fork-head.				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					TCATCAGCCAGGCCATTGAAA	0.587												
CXorf65	158830	broad.mit.edu	37	X	70326403	70326403	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:70326403A>G	uc011mpo.1	-	1	18	c.4T>C	c.(4-6)TTC>CTC	p.F2L	CXorf65_uc011mpp.1_5'UTR	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	hypothetical protein LOC158830	2										central_nervous_system(1)	1						ATGAAGATGAACATGCCCTCA	0.537												
MED12	9968	broad.mit.edu	37	X	70356410	70356410	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:70356410A>C	uc004dyy.2	+	37	5504	c.5305A>C	c.(5305-5307)ACT>CCT	p.T1769P	MED12_uc011mpq.1_Missense_Mutation_p.T1769P|MED12_uc004dyz.2_Missense_Mutation_p.T1769P|MED12_uc004dza.2_Missense_Mutation_p.T1616P|MED12_uc010nla.2_Missense_Mutation_p.T395P	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1769	Pro-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GCCCCCCAAAACTGACAAACC	0.592												
ATP7A	538	broad.mit.edu	37	X	77267084	77267084	+	Silent	SNP	T	T	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:77267084T>C	uc004ecx.3	+	9	2245	c.2085T>C	c.(2083-2085)CTT>CTC	p.L695L	ATP7A_uc004ecw.2_3'UTR	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	695	Extracellular (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						TGATCAACCTTCATTCTTCTA	0.388												
NAP1L3	4675	broad.mit.edu	37	X	92927974	92927974	+	Silent	SNP	C	C	T	rs139070318		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:92927974C>T	uc004efq.2	-	1	635	c.330G>A	c.(328-330)GCG>GCA	p.A110A	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	110					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						TGTTTCTAAGCGCTTGCACAC	0.468												
TNMD	64102	broad.mit.edu	37	X	99854133	99854133	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:99854133G>A	uc004efy.3	+	6	924	c.698G>A	c.(697-699)CGT>CAT	p.R233H	TNMD_uc004efz.2_3'UTR	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN	tenomodulin	233	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						GAGAAGACCCGTCACGCCAGA	0.428												
MID2	11043	broad.mit.edu	37	X	107169389	107169389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:107169389C>T	uc004enl.2	+	9	2236	c.1663C>T	c.(1663-1665)CAG>TAG	p.Q555*	MID2_uc004enk.2_Nonsense_Mutation_p.Q525*	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	555	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						TGATGGATTGCAGATGGAGAA	0.408												
COL4A6	1288	broad.mit.edu	37	X	107423838	107423838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:107423838G>A	uc004enw.3	-	25	2144	c.2041C>T	c.(2041-2043)CGA>TGA	p.R681*	COL4A6_uc004env.3_Nonsense_Mutation_p.R680*|COL4A6_uc011msn.1_Nonsense_Mutation_p.R680*|COL4A6_uc010npk.2_Nonsense_Mutation_p.R680*	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	681	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						GGGAGGCCTCGAGACCCTTTA	0.507									Alport_syndrome_with_Diffuse_Leiomyomatosis			
GUCY2F	2986	broad.mit.edu	37	X	108635326	108635326	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:108635326A>G	uc004eod.3	-	14	2871	c.2595T>C	c.(2593-2595)GTT>GTC	p.V865V	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	865	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						GAGATTCAGCAACTGATCTGA	0.443												
SLC25A43	203427	broad.mit.edu	37	X	118540544	118540544	+	Silent	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:118540544C>A	uc004erd.2	+	2	741	c.397C>A	c.(397-399)CGG>AGG	p.R133R	SLC25A43_uc004erc.1_RNA|SLC25A43_uc011mtt.1_Silent_p.R133R	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	mitochondrial solute carrier protein	133	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			skin(1)	1						CATCAAAACCCGGTTGATCAT	0.502												
ODZ1	10178	broad.mit.edu	37	X	123787483	123787483	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:123787483G>T	uc004euj.2	-	7	1383	c.1319C>A	c.(1318-1320)TCT>TAT	p.S440Y	ODZ1_uc011muj.1_Missense_Mutation_p.S439Y|ODZ1_uc010nqy.2_Missense_Mutation_p.S440Y	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	440	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TCCCAGCAGAGAGTCCTTGGC	0.393												
BCORL1	63035	broad.mit.edu	37	X	129147983	129147983	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:129147983C>T	uc004evb.1	+	4	1349	c.1235C>T	c.(1234-1236)CCG>CTG	p.P412L	BCORL1_uc010nrd.1_Missense_Mutation_p.P314L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	412	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						gcacccatcccggcctccTTC	0.254												
ZNF280C	55609	broad.mit.edu	37	X	129364678	129364678	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:129364678A>G	uc004evm.2	-	9	949	c.795T>C	c.(793-795)ACT>ACC	p.T265T	ZNF280C_uc010nrf.1_Silent_p.T265T	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						CCAAAAATTTAGTTATCATGT	0.323												
HS6ST2	90161	broad.mit.edu	37	X	132092382	132092382	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:132092382G>A	uc011mve.1	-	2	665	c.249C>T	c.(247-249)TGC>TGT	p.C83C	HS6ST2_uc011mvb.1_5'Flank|HS6ST2_uc011mvc.1_5'Flank|HS6ST2_uc011mvd.1_Silent_p.C83C	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	83	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					AAAGCGGGGCGCACGCGGCTC	0.721												
FAM127C	441518	broad.mit.edu	37	X	134156235	134156235	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:134156235C>A	uc004eyc.1	-	1	332	c.255G>T	c.(253-255)AAG>AAT	p.K85N		NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	85											0	Acute lymphoblastic leukemia(192;0.000127)					GGCTCTCCTTCTTGATGTAGG	0.617												
FMR1NB	158521	broad.mit.edu	37	X	147062865	147062865	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:147062865C>T	uc004fcm.2	+	1	17	c.-57C>T	c.(-59--55)CACGG>CATGG			NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor							integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGGGCCACGGACTGCCGG	0.662												
MAGEA11	4110	broad.mit.edu	37	X	148797716	148797716	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:148797716G>A	uc004fdq.2	+	5	672	c.570G>A	c.(568-570)GGG>GGA	p.G190G	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Silent_p.G161G	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	190						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCATCTTTGGGAGCCTATCTG	0.547												
MAGEA10	4109	broad.mit.edu	37	X	151303922	151303922	+	Silent	SNP	A	A	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:151303922A>G	uc004ffk.2	-	5	579	c.171T>C	c.(169-171)TCT>TCC	p.S57S	MAGEA10_uc004ffl.2_Silent_p.S57S	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	57	Poly-Ser.										0	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaagaggaggagg	0.413												
FAM58A	92002	broad.mit.edu	37	X	152860096	152860096	+	Missense_Mutation	SNP	C	C	T	rs150562029	byFrequency	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:152860096C>T	uc010nug.2	-	2	255	c.152G>A	c.(151-153)CGC>CAC	p.R51H				Q8N1B3	FA58A_HUMAN	RecName: Full=Cyclin-related protein FAM58B;	113					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCCCAGAAGCGGGAGTCCAA	0.562												
L1CAM	3897	broad.mit.edu	37	X	153128940	153128940	+	Silent	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:153128940G>A	uc004fjb.2	-	26	3630	c.3522C>T	c.(3520-3522)GGC>GGT	p.G1174G	L1CAM_uc004fjc.2_Silent_p.G1174G|L1CAM_uc010nuo.2_Silent_p.G1169G	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1174	Cytoplasmic (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGTACTCGCCGAAGGTCT	0.612												
HCFC1	3054	broad.mit.edu	37	X	153228708	153228708	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:153228708C>T	uc004fjp.2	-	4	1208	c.680G>A	c.(679-681)TGC>TAC	p.C227Y		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	227	Kelch 4.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCAGCCTGCAGCCACTCAT	0.607												
UBL4A	8266	broad.mit.edu	37	X	153714222	153714222	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:153714222G>A	uc004flo.2	-	3	260	c.251C>T	c.(250-252)GCC>GTC	p.A84V		NM_014235	NP_055050	P11441	UBL4A_HUMAN	ubiquitin-like 4	84					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCCTCTGGGCCTCGCCTTC	0.602												
AKNAD1	254268	broad.mit.edu	37	1	109369927	109369927	+	Splice_Site	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378												
EPRS	2058	broad.mit.edu	37	1	220191853	220191853	+	Splice_Site	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:220191852_220191852TA>T	uc001hly.1	-	12	1705	c.1435_splice	c.e12-1	p.G479_splice	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Splice_Site_p.G230_splice|EPRS_uc001hlz.1_Splice_Site_p.G479_splice|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	479	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TGAGGAGCCCTAAAAAACAAT	0.348												
WDR26	80232	broad.mit.edu	37	1	224607320	224607320	+	Splice_Site	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:224607319_224607319TA>T	uc001hop.4	-	5	959	c.765_splice	c.e5-1	p.G255_splice	WDR26_uc001hoq.4_Splice_Site_p.G239_splice|WDR26_uc021pjp.1_Splice_Site|WDR26_uc009xei.2_Splice_Site_p.G239_splice|WDR26_uc021pjs.1_5'Flank	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	Homo sapiens WD repeat domain 26 (WDR26), transcript variant 1, mRNA.	255						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		ATCAGATACCTAAAAATACAA	0.378												
COLQ	8292	broad.mit.edu	37	3	15516433	15516433	+	Splice_Site	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:15516432_15516432CT>C	uc003bzx.3	-	8	681	c.555_splice	c.e8+1	p.K185_splice	COLQ_uc003bzv.3_Splice_Site_p.K175_splice|COLQ_uc010heo.3_Splice_Site_p.K151_splice|COLQ_uc003cad.1_Splice_Site|COLQ_uc003cae.1_Splice_Site_p.K44_splice	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	185	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						AAGCACTAACCTTTTCCCCTC	0.478												
RNF145	153830	broad.mit.edu	37	5	158596066	158596066	+	Splice_Site	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363												
HLA-A	3105	broad.mit.edu	37	6	29911900	29911900	+	Splice_Site	DEL	C	C	-	rs75368153		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:29911899_29911899AC>A	uc003nol.3	+	4	704	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCCCGTCAGACCCCCCCAAG	0.577									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)		
SBF2	81846	broad.mit.edu	37	11	9878270	9878270	+	Splice_Site	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:9878269_9878269TA>T	uc001mib.2	-	19	2239	c.2101_splice	c.e19-1	p.D701_splice	SBF2_uc001mif.3_Splice_Site_p.D457_splice|U80769_uc001mig.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	701					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAGCTTATCCTAAAAAATAAA	0.408												
FBN1	2200	broad.mit.edu	37	15	48797224	48797225	+	Splice_Site	DEL	AC	AC	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:48797223_48797224AAC>A	uc001zwx.2	-	16	2355	c.1960_splice	c.e16+1	p.D654_splice		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	654			D -> N (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTTCTTACCAACACACACACG	0.490												
NF1	4763	broad.mit.edu	37	17	29670156	29670156	+	Splice_Site	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:29670155_29670155TA>T	uc002hgg.3	+	48	7572	c.7189_splice	c.e48+2	p.G2397_splice	NF1_uc002hgh.3_Splice_Site_p.G2376_splice|NF1_uc010cso.3_Splice_Site_p.G585_splice|NF1_uc010wbt.1_Splice_Site|NF1_uc010wbu.1_Splice_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2397					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTAAAAGGTAAAAAAGCCT	0.318			"""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)		
TMEM104	54868	broad.mit.edu	37	17	72791152	72791152	+	Splice_Site	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:72791151_72791151TG>T	uc002jls.4	+	7	590	c.428_splice	c.e7-1	p.V143_splice	TMEM104_uc010wrf.1_Splice_Site_p.V143_splice|TMEM104_uc010wrg.1_Splice_Site_p.V156_splice|TMEM104_uc010dfx.3_Splice_Site_p.V143_splice	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	143						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TTCCTTTCAGTGGGGGTCAAC	0.463												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGG	0.294												
CREB3L4	148327	broad.mit.edu	37	1	153946103	153946103	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:153946103delT	uc001fdn.3	+	9	1171	c.905delT	c.(904-906)CTTfs	p.L302fs	CREB3L4_uc010pef.1_Frame_Shift_Del_p.L155fs|CREB3L4_uc001fdo.3_Frame_Shift_Del_p.L282fs|CREB3L4_uc001fdm.1_Frame_Shift_Del_p.L302fs|CREB3L4_uc001fdp.1_Frame_Shift_Del_p.L282fs|CREB3L4_uc001fdr.2_Frame_Shift_Del_p.L302fs|CREB3L4_uc001fdq.2_Frame_Shift_Del_p.L282fs	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like	302	Helical; Signal-anchor for type II membrane protein; (Potential).				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGATTCTTCTTTTTTCCCTG	0.552												
FBXO28	23219	broad.mit.edu	37	1	224301979	224301980	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:224301979_224301980insC	uc001hoh.2	+	1	189_190	c.148_149insC	c.(148-150)GCCfs	p.A50fs	FBXO28_uc009xef.2_Frame_Shift_Ins_p.A50fs|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	50										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GGCGCTCCCAGCCCCCGCGCTG	0.668												
MYO3A	53904	broad.mit.edu	37	10	26385330	26385330	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:26385330delT	uc001isn.2	+	16	1943	c.1583delT	c.(1582-1584)ATTfs	p.I528fs	MYO3A_uc009xko.1_Frame_Shift_Del_p.I528fs|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Frame_Shift_Del_p.I528fs	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	528	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						AATTTTCATATTTTTTACTAC	0.313												
PLCB3	5331	broad.mit.edu	37	11	64032517	64032517	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:64032517delC	uc001nzb.2	+	23	2747	c.2747delC	c.(2746-2748)TCCfs	p.S916fs	PLCB3_uc009ypg.1_Frame_Shift_Del_p.S916fs|PLCB3_uc009yph.1_Frame_Shift_Del_p.S849fs|PLCB3_uc009ypi.2_Frame_Shift_Del_p.S916fs	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	916					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						CTGGATGCCTCCCCCCGCCGG	0.701												
CNIH	10175	broad.mit.edu	37	14	54896992	54896992	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:54896992delA	uc001xat.1	-	4	497	c.394delT	c.(394-396)TACfs	p.Y132fs	CNIH_uc001xav.1_Intron	NM_005776	NP_005767	O95406	CNIH_HUMAN	cornichon-like	132	Helical; (Potential).				immune response|intracellular signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane					0				GBM - Glioblastoma multiforme(112;0.00341)		TATAGGTAGTAAAAAAATGCT	0.348												
PPP1R13B	23368	broad.mit.edu	37	14	104216136	104216136	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:104216136delT	uc001yof.1	-	8	1247	c.964delA	c.(964-966)ATTfs	p.I322fs	PPP1R13B_uc001yog.1_Frame_Shift_Del_p.I189fs	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	322					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CATGCCTGAATTTTTTTCCCA	0.428												
METRN	79006	broad.mit.edu	37	16	767217	767218	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:767217_767218insC	uc002cjd.2	+	4	829_830	c.712_713insC	c.(712-714)ACCfs	p.T238fs	uc010bra.1_5'Flank	NM_024042	NP_076947	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	238											0		Hepatocellular(780;0.00335)				CTCCATTCGTACCCCACTGCGC	0.698												
SMCHD1	23347	broad.mit.edu	37	18	2706440	2706440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr18:2706440delA	uc002klm.3	+	15	2224	c.2035delA	c.(2035-2037)AAAfs	p.K679fs	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	679					chromosome organization		ATP binding				0						GAAAGCTGTTAAAAAATATGT	0.353												
MLL4	9757	broad.mit.edu	37	19	36229305	36229305	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:36229305delC	uc010eei.2	+	38	7995	c.7995delC	c.(7993-7995)CACfs	p.H2665fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2665	SET.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGTCATCCACGTGGAGGGCC	0.572												
TFRC	7037	broad.mit.edu	37	3	195782167	195782168	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:195782167_195782168delTG	uc003fvz.3	-	17	1965_1966	c.1682_1683delCA	c.(1681-1683)ACAfs	p.T561fs	TFRC_uc003fwa.3_Frame_Shift_Del_p.T561fs|TFRC_uc010hzy.2_Frame_Shift_Del_p.T480fs|TFRC_uc011btr.1_Frame_Shift_Del_p.T279fs	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	561	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		AAGGATAATCTGTGTCCTGCAA	0.500			T	BCL6	NHL							
EXD3	54932	broad.mit.edu	37	9	140243958	140243958	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:140243958delG	uc004cmp.2	-	15	1716	c.1520delC	c.(1519-1521)CCAfs	p.P507fs	C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Frame_Shift_Del_p.P187fs|EXD3_uc004cmq.1_RNA	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	507					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						GTCCACGGCTGGGGCTGGCAC	0.682												
LZIC	84328	broad.mit.edu	37	1	9990468	9990469	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:9990467_9990468G>GT	uc010oah.2	-	7	693_694	c.625_626C>AC	c.(625-627)acafs	p.T209fs	LZIC_uc001aqm.3_Frame_Shift_Ins_p.T188fs|LZIC_uc001aqo.3_Frame_Shift_Ins_p.T188fs|LZIC_uc009vmr.3_Frame_Shift_Ins_p.T188fs	NM_032368	NP_115744	Q8WZA0	LZIC_HUMAN	Homo sapiens leucine zipper and CTNNBIP1 domain containing (LZIC), mRNA.	188							beta-catenin binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		TCATTTTTTTGTTTTTTCAACC	0.332												
HSPG2	3339	broad.mit.edu	37	1	22176669	22176669	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:22176668_22176668TG>T	uc009vqd.3	-	56	7355	c.7315_7315CA>A	c.(7315-7317)acgfs	p.T2439fs	HSPG2_uc001bfj.3_Frame_Shift_Del_p.T2438fs	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2438	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATCCGGACCGTGGGGGTGACC	0.632												
CNKSR1	10256	broad.mit.edu	37	1	26514778	26514779	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:26514777_26514778G>GC	uc001bln.4	+	16	1586_1587	c.1528_1529G>GC	c.(1528-1530)gccfs	p.A510fs	CNKSR1_uc001blm.4_Frame_Shift_Ins_p.A503fs|CNKSR1_uc009vsd.3_Frame_Shift_Ins_p.A245fs|CNKSR1_uc009vse.3_Frame_Shift_Ins_p.A245fs|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	510					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.A503T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGGCCGGGCCCCCCCACCC	0.604												
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
WDTC1	23038	broad.mit.edu	37	1	27621108	27621109	+	Frame_Shift_Ins	INS	-	-	G	rs145339479		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:27621107_27621108T>TG	uc009vst.2	+	8	1395_1396	c.860_861T>TG	c.(859-861)atgfs	p.M287fs	WDTC1_uc001bno.3_Frame_Shift_Ins_p.M287fs|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_5'Flank	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	287							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTAGTCAACATGGGGGGGGAAC	0.540												
LRRC41	10489	broad.mit.edu	37	1	46751495	46751496	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:46751494_46751495T>TG	uc001cpn.3	-	3	1078_1079	c.1034_1035A>CA	c.(1033-1035)ccafs	p.P345fs	LRRC41_uc010omb.2_Frame_Shift_Ins_p.P345fs|LRRC41_uc001cpo.1_Frame_Shift_Ins_p.P345fs	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	345										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGAGGTGGCTGGGGGGTGCAG	0.619												
TMEM48	55706	broad.mit.edu	37	1	54291559	54291559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:54291558_54291558GA>G	uc001cvs.3	-	4	798	c.507_507TC>C	c.(505-507)ttcfs	p.F169fs	TMEM48_uc010onu.2_Frame_Shift_Del_p.F129fs|TMEM48_uc001cvt.3_Frame_Shift_Del_p.F46fs|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	169					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						CAGTCAGTAGGAAAAAAAGAT	0.373												
HOOK1	51361	broad.mit.edu	37	1	60314140	60314140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:60314139_60314139TA>T	uc009wad.3	+	11	1184	c.1082_1082TA>T	c.(1081-1083)ttafs	p.L361fs	HOOK1_uc001czo.3_Frame_Shift_Del_p.L361fs|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Frame_Shift_Del_p.L319fs	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	361	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GAAGAAGAATTAAAAAAAGCA	0.323												
DOCK7	85440	broad.mit.edu	37	1	63090936	63090936	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:63090935_63090935TA>T	uc001daq.3	-	11	1454	c.1420_1420TA>A	c.(1420-1422)aagfs	p.K474fs	DOCK7_uc001dan.3_Frame_Shift_Del_p.K366fs|DOCK7_uc001dao.3_Frame_Shift_Del_p.K366fs|DOCK7_uc001dap.3_Frame_Shift_Del_p.K474fs|DOCK7_uc009wah.1_Frame_Shift_Del_p.K474fs	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	474					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AATACCTGCTTAAAAAAATTT	0.373												
ABCA4	24	broad.mit.edu	37	1	94497458	94497458	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:94497457_94497457TG>T	uc001dqh.3	-	26	4109	c.4005_4005CA>A	c.(4003-4005)ccafs	p.P1335fs		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1335					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACTCTGGCTCTGGGGGAGGCT	0.657												
TTF2	8458	broad.mit.edu	37	1	117644049	117644050	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:117644048_117644049G>GA	uc001egy.3	+	22	3411_3412	c.3391_3392G>GA	c.(3391-3393)gaafs	p.E1131fs		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	1131	Helicase C-terminal.				RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		ACAGCTCCAAGAAAAAAAGAAA	0.381												
RPRD2	23248	broad.mit.edu	37	1	150443735	150443735	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:150443734_150443734AC>A	uc009wlr.3	+	10	2511	c.2310_2310AC>A	c.(2308-2310)ccafs	p.P770fs	RPRD2_uc010pcc.1_Frame_Shift_Del_p.P744fs|RPRD2_uc001eup.4_Frame_Shift_Del_p.P744fs	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	770	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAGATCACCACCCCCTGGGA	0.498												
TCHH	7062	broad.mit.edu	37	1	152085552	152085553	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:152085551_152085552GTC>G	uc009wne.1	-	2	413_414	c.141_142GAC>C	c.(139-144)agaccafs	p.R47fs	TCHH_uc001ezp.2_Frame_Shift_Del_p.R47fs	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	47	EF-hand 1.|S-100-like.				keratinization	cytoskeleton	calcium ion binding	p.R46L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGTCATGTGGTCTCTATAAAA	0.342												
CD48	962	broad.mit.edu	37	1	160650962	160650963	+	Frame_Shift_Ins	INS	-	-	C	rs112983858		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:160650961_160650962G>GC	uc001fwo.1	-	2	714_715	c.682_683C>GC	c.(682-684)gcafs	p.A228fs	CD48_uc001fwn.3_Intron	NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	0					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTTACCCTGTGCCCCCCTCAGC	0.545												
UAP1	6675	broad.mit.edu	37	1	162549290	162549290	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:162549289_162549289TA>T	uc001gce.4	+	3	886	c.557_557TA>T	c.(556-558)ttafs	p.L186fs		NM_003115	NP_003106	Q16222	UAP1_HUMAN	Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1 (UAP1), mRNA.	186					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TACTTTGGTTTAAAAAAAGAG	0.363												
HMCN1	83872	broad.mit.edu	37	1	186086701	186086701	+	Frame_Shift_Del	DEL	A	A	-	rs76430089	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:186086700_186086700CA>C	uc001grq.1	+	76	12022	c.11793_11793CA>C	c.(11791-11793)accfs	p.T3931fs	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3931	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCACTGGACCAAAAATGGTA	0.433												
EPRS	2058	broad.mit.edu	37	1	220191853	220191853	+	Splice_Site	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:220191852_220191852TA>T	uc001hly.1	-	12	1705	c.1435_splice	c.e12-1	p.G479_splice	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Splice_Site_p.G230_splice|EPRS_uc001hlz.1_Splice_Site_p.G479_splice|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	479	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TGAGGAGCCCTAAAAAACAAT	0.348												
WDR26	80232	broad.mit.edu	37	1	224607320	224607320	+	Splice_Site	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:224607319_224607319TA>T	uc001hop.4	-	5	959	c.765_splice	c.e5-1	p.G255_splice	WDR26_uc001hoq.4_Splice_Site_p.G239_splice|WDR26_uc021pjp.1_Splice_Site|WDR26_uc009xei.2_Splice_Site_p.G239_splice|WDR26_uc021pjs.1_5'Flank	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	Homo sapiens WD repeat domain 26 (WDR26), transcript variant 1, mRNA.	255						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		ATCAGATACCTAAAAATACAA	0.378												
C1orf96	126731	broad.mit.edu	37	1	229462512	229462514	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:229462511_229462513CGTT>C	uc001htl.4	-	2	686_688	c.608_610AACG>G	c.(607-612)aacgtc>aGtc	p.203_204NV>S	C1orf96_uc009xfc.3_Non-coding_Transcript	NM_145257	NP_660300	Q6IQ19	CA096_HUMAN	Homo sapiens chromosome 1 open reading frame 96 (C1orf96), mRNA.	203						centrosome				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				GACGCACAGACGTTGTGAGTCTT	0.532												
OR14I1	401994	broad.mit.edu	37	1	248844882	248844882	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr1:248844881_248844881TG>T	uc001ieu.1	-	0	725	c.725_725CA>A	c.(724-726)cagfs	p.Q242fs		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GACAATGAGCTGGGGGGAGCA	0.463												
ATP6V1B1	525	broad.mit.edu	37	2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AFF3	3899	broad.mit.edu	37	2	100210562	100210563	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:100210561_100210562TTC>T	uc002taf.3	-	13	1780_1781	c.1636_1637GAA>A	c.(1636-1638)aagfs	p.K546fs	AFF3_uc002tag.3_Frame_Shift_Del_p.K521fs|AFF3_uc010fiq.1_Frame_Shift_Del_p.K521fs|AFF3_uc010yvr.1_Frame_Shift_Del_p.K674fs|AFF3_uc002tah.1_Frame_Shift_Del_p.K546fs	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	521					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTTGATCTCCTTCTCTCTCAGG	0.594												
NEB	4703	broad.mit.edu	37	2	152522788	152522788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:152522787_152522787CT>C	uc021vrb.1	-	38	4877	c.4848_4848AG>G	c.(4846-4848)aagfs	p.K1616fs	NEB_uc002txu.3_Frame_Shift_Del_p.K1616fs|NEB_uc021vrc.1_Frame_Shift_Del_p.K1616fs|NEB_uc010fnx.3_Frame_Shift_Del_p.K1616fs|NEB_uc021vrd.1_Frame_Shift_Del_p.K1616fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1616					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTCATAGCCCTTTTTGTACT	0.468												
TTN	7273	broad.mit.edu	37	2	179535860	179535861	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:179535859_179535860G>GT	uc021vsy.1	-	150	31587_31588	c.31362_31363C>AC	c.(31360-31365)aaaccgfs	p.K10454fs	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Ins_p.K7115fs|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11381	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGTGGGCGGTTTTTTTGGAG	0.366												
PLCL1	5334	broad.mit.edu	37	2	198949404	198949405	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:198949403_198949404A>AT	uc010fsp.3	+	1	1560_1561	c.1162_1163A>AT	c.(1162-1164)attfs	p.I388fs	PLCL1_uc002uuv.4_Frame_Shift_Ins_p.I309fs	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	388					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGAATGTGACATTTTTGATCCT	0.391												
CAPN10	11132	broad.mit.edu	37	2	241536127	241536127	+	Frame_Shift_Del	DEL	C	C	-	rs7607759	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr2:241536126_241536126AC>A	uc002vzk.2	+	8	1706	c.1510_1510AC>A	c.(1510-1512)accfs	p.T504fs	CAPN10_uc002vzp.2_Intron|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Intron|CAPN10_uc002vzn.2_Frame_Shift_Del_p.T376fs|CAPN10_uc002vzo.2_Intron|CAPN10_uc010fzg.2_Intron|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	504			T -> A (in dbSNP:rs7607759).		actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CAAGAACACCACCCCCGGGGC	0.672												
IL17RE	132014	broad.mit.edu	37	3	9950934	9950934	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:9950933_9950933CA>C	uc003btu.3	+	8	892	c.888_888CA>C	c.(886-888)cgcfs	p.R296fs	CIDEC_uc003bto.3_Intron|IL17RE_uc003btv.3_Frame_Shift_Del_p.R256fs|IL17RE_uc011atn.1_Intron|IL17RE_uc003bty.3_Non-coding_Transcript|IL17RE_uc003btx.3_Frame_Shift_Del_p.R140fs|IL17RE_uc010hcq.3_Frame_Shift_Del_p.R256fs|IL17RE_uc003btw.3_Frame_Shift_Del_p.R256fs	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	Homo sapiens interleukin 17 receptor E (IL17RE), transcript variant 5, mRNA.	256						cytoplasm|extracellular region|integral to membrane	receptor activity	p.C295C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CTGTGAGGCGCAAAAAATGTC	0.537												
COLQ	8292	broad.mit.edu	37	3	15516433	15516433	+	Splice_Site	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:15516432_15516432CT>C	uc003bzx.3	-	8	681	c.555_splice	c.e8+1	p.K185_splice	COLQ_uc003bzv.3_Splice_Site_p.K175_splice|COLQ_uc010heo.3_Splice_Site_p.K151_splice|COLQ_uc003cad.1_Splice_Site|COLQ_uc003cae.1_Splice_Site_p.K44_splice	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	185	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						AAGCACTAACCTTTTCCCCTC	0.478												
TRANK1	9881	broad.mit.edu	37	3	36893222	36893223	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:36893221_36893222T>TA	uc003cgj.3	-	13	4991_4992	c.4743_4744A>TA	c.(4741-4746)tttactfs	p.F1581fs		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1581					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCAGAATCAGTAAAAAAGTTGT	0.376												
COL7A1	1294	broad.mit.edu	37	3	48621170	48621170	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:48621169_48621169AG>A	uc003ctz.2	-	38	4324	c.4323_4323CT>T	c.(4321-4323)cctfs	p.P1441fs		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1441	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P1441S(2)|p.P1440P(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTTCTTTCCAGGGGGGCCAA	0.577												
CACNA2D2	9254	broad.mit.edu	37	3	50402516	50402518	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:50402515_50402517CCTT>C	uc003daq.3	-	36	3256_3258	c.3218_3220AAGG>G	c.(3217-3222)aaggag>aGag	p.1073_1074KE>R	CACNA2D2_uc003dap.3_In_Frame_Del_p.1066_1067KE>R	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	1073					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CAGTGCGTCTCCTTCTGCAGCAG	0.709												
ATXN7	6314	broad.mit.edu	37	3	63981492	63981492	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:63981491_63981491TC>T	uc003dlv.3	+	11	2546	c.1993_1993TC>T	c.(1993-1995)tccfs	p.S665fs	ATXN7_uc003dlw.4_Frame_Shift_Del_p.S665fs|ATXN7_uc021wzy.1_Frame_Shift_Del_p.S665fs|ATXN7_uc011bfn.2_Frame_Shift_Del_p.S520fs	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	665	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GGTTCCTTCCTCCCCCATGTC	0.512												
UROC1	131669	broad.mit.edu	37	3	126229603	126229603	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:126229602_126229602CG>C	uc010hsi.2	-	1	216	c.162_162CG>G	c.(160-162)ccgfs	p.P54fs	UROC1_uc003eiz.2_Frame_Shift_Del_p.P54fs	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	54					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCTGGACATCCGGGGGGAAGT	0.637												
ETV5	2119	broad.mit.edu	37	3	185769835	185769835	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:185769834_185769834CT>C	uc003fpy.3	-	11	1487	c.1422_1422AG>G	c.(1420-1422)aagfs	p.K474fs	ETV5_uc003fpz.3_Frame_Shift_Del_p.K432fs	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	432					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.C473C(1)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GCATGATGCCCTTTTCATAGT	0.512			T	"""TMPRSS2, SCL45A3"""	Prostate							
TFRC	7037	broad.mit.edu	37	3	195796404	195796404	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr3:195796403_195796403CT>C	uc003fvz.4	-	6	1007	c.724_724AG>G	c.(724-726)gatfs	p.D242fs	TFRC_uc003fwa.4_Frame_Shift_Del_p.D242fs|TFRC_uc010hzy.3_Frame_Shift_Del_p.D161fs|TFRC_uc011btr.2_5'UTR	NM_003234	NP_003225	P02786	TFR1_HUMAN	Homo sapiens transferrin receptor (p90, CD71) (TFRC), transcript variant 1, mRNA.	242	PA.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TCCTCAAAATCTTTTTTAGTA	0.343			T	BCL6	NHL							
NOP14	8602	broad.mit.edu	37	4	2941000	2941001	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:2940999_2941000TTG>T	uc003ggj.1	-	16	2461_2462	c.2389_2390CAA>A	c.(2389-2391)aagfs	p.K797fs	NOP14-AS1_uc003ggd.1_Intron|NOP14-AS1_uc003gge.1_Intron|NOP14-AS1_uc003ggg.1_Intron|NOP14-AS1_uc003ggh.3_Intron|NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc021xkt.1_5'Flank|NOP14_uc003ggl.3_Frame_Shift_Del_p.K797fs	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	797					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)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						AAATTCACGCTTGTGTTTGTGG	0.495												
KIAA0232	9778	broad.mit.edu	37	4	6843887	6843888	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:6843886_6843887G>GA	uc003gjr.4	+	3	787_788	c.324_325G>GA	c.(322-327)atgaaafs	p.M108fs	KIAA0232_uc003gjq.4_Frame_Shift_Ins_p.M108fs	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	108							ATP binding	p.K109E(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TAGAAGAAATGAAAAAACAGGC	0.371												
PROM1	8842	broad.mit.edu	37	4	15995680	15995681	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:15995679_15995680A>AT	uc003goo.2	-	14	1909_1910	c.1697_1698T>AT	c.(1696-1698)aatfs	p.N566fs	PROM1_uc003gor.2_Frame_Shift_Ins_p.N566fs|PROM1_uc003gos.2_Frame_Shift_Ins_p.N557fs|PROM1_uc003got.2_Frame_Shift_Ins_p.N566fs|PROM1_uc003gou.2_Frame_Shift_Ins_p.N557fs|PROM1_uc003gop.2_Frame_Shift_Ins_p.N557fs|PROM1_uc003goq.3_Frame_Shift_Ins_p.N557fs	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	566					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	p.N565N(4)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AAGTGCCTCTATTTTTTTTGCA	0.426												
SULT1B1	27284	broad.mit.edu	37	4	70599153	70599153	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:70599152_70599152CA>C	uc003hen.3	-	5	874	c.576_576TG>G	c.(574-576)ttgfs	p.L192fs		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	192					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CTTCATAGTACAAAAAAAGTA	0.348												
ALPK1	80216	broad.mit.edu	37	4	113356416	113356416	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:113356415_113356415CT>C	uc003ian.4	+	11	3373	c.3146_3146CT>C	c.(3145-3147)gctfs	p.A1049fs	ALPK1_uc003iap.4_Frame_Shift_Del_p.A1049fs|ALPK1_uc011cfx.2_Frame_Shift_Del_p.A971fs|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Frame_Shift_Del_p.A877fs	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1049	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAAAGAAATGCTTTTTGGGTT	0.353												
FAT4	79633	broad.mit.edu	37	4	126373367	126373367	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:126373366_126373366AT>A	uc003ifj.4	+	8	11195	c.11195_11195AT>A	c.(11194-11196)catfs	p.H3732fs	FAT4_uc011cgp.2_Frame_Shift_Del_p.H2030fs|FAT4_uc003ifi.1_Frame_Shift_Del_p.H1210fs	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3732					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACTATCTTCATTTTTTACGC	0.443												
PLK4	10733	broad.mit.edu	37	4	128814507	128814507	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:128814506_128814506TA>T	uc003ifo.3	+	10	2529	c.2255_2255TA>T	c.(2254-2256)ttafs	p.L752fs	PLK4_uc011cgs.2_Frame_Shift_Del_p.L720fs|PLK4_uc011cgt.2_Frame_Shift_Del_p.L711fs	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	752					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TCTTACACTTTAAAAAGTGAA	0.303												
INPP4B	8821	broad.mit.edu	37	4	143007332	143007332	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:143007331_143007331CT>C	uc003iix.4	-	24	3048	c.2453_2453AG>G	c.(2452-2454)agafs	p.R818fs	INPP4B_uc003iiw.4_Frame_Shift_Del_p.R818fs|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Frame_Shift_Del_p.R633fs|INPP4B_uc011cho.1_Non-coding_Transcript	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	818					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TACATTCTTTCTTTTTTTGGA	0.338												
SMARCA5	8467	broad.mit.edu	37	4	144442710	144442710	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:144442709_144442709TA>T	uc003ijg.3	+	2	842	c.380_380TA>T	c.(379-381)atafs	p.I127fs		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	127					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	p.R126Q(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CGCCCACGAATAAAAAAAGAT	0.378												
OTUD4	54726	broad.mit.edu	37	4	146058622	146058624	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:146058621_146058623TCTC>T	uc003ika.4	-	20	3247_3249	c.3109_3111GAGA>A	c.(3109-3111)aga>A	p.R1037del		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	1101							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATCCCTGATCTCCTCCTATCT	0.478												
EDNRA	1909	broad.mit.edu	37	4	148441069	148441069	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:148441068_148441068CT>C	uc003iky.3	+	2	1016	c.486_486CT>C	c.(484-486)cccfs	p.P162fs	EDNRA_uc011cid.2_5'UTR|EDNRA_uc010ipg.2_Intron|EDNRA_uc010ipe.1_Intron|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	162					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	p.P162P(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	AGCTGTTCCCCTTTTTGCAGA	0.502												
NEIL3	55247	broad.mit.edu	37	4	178283532	178283532	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr4:178283531_178283531AT>A	uc003iut.2	+	9	1841	c.1724_1724AT>A	c.(1723-1725)aatfs	p.N575fs		NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	575					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AATGGAAAGAATTTTTTTGTG	0.403								Base excision repair (BER), DNA glycosylases				
SPEF2	79925	broad.mit.edu	37	5	35700715	35700715	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:35700714_35700714GA>G	uc003jjo.3	+	15	2369	c.2258_2258GA>G	c.(2257-2259)agafs	p.R753fs	SPEF2_uc003jjq.4_Frame_Shift_Del_p.R748fs|SPEF2_uc003jjp.1_Frame_Shift_Del_p.R239fs	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	753					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAGTGGAAAGAAAAAAAGCA	0.388												
WDR70	55100	broad.mit.edu	37	5	37701208	37701209	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:37701207_37701208C>CT	uc003jkv.3	+	11	1298_1299	c.1240_1241C>CT	c.(1240-1242)cttfs	p.L414fs		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	414										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAATAAACCACTTTTTTCAGCC	0.347												
CDC25C	995	broad.mit.edu	37	5	137627690	137627691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:137627689_137627690C>CT	uc003lcs.1	-	7	1165_1166	c.965_966G>AG	c.(964-966)aagfs	p.K322fs	CDC25C_uc003lcp.1_Frame_Shift_Ins_p.K244fs|CDC25C_uc003lcq.1_Frame_Shift_Ins_p.K171fs|CDC25C_uc003lcr.1_Frame_Shift_Ins_p.K244fs|CDC25C_uc011cyp.1_Frame_Shift_Ins_p.K261fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	244	Rhodanese.				DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGAAAAATACTTTTTTTTAAC	0.386												
RNF145	153830	broad.mit.edu	37	5	158596066	158596066	+	Splice_Site	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363												
BTN2A2	10385	broad.mit.edu	37	6	26390383	26390383	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:26390382_26390382GA>G	uc003nht.3	+	4	1007	c.874_874GA>G	c.(874-876)gaafs	p.E292fs	BTN2A2_uc003nhs.3_Frame_Shift_Del_p.E292fs|BTN2A2_uc011dkf.2_Frame_Shift_Del_p.E176fs|BTN2A2_uc003nhq.3_Frame_Shift_Del_p.E292fs|BTN2A2_uc003nhr.3_Frame_Shift_Del_p.E176fs|BTN2A2_uc011dkh.2_Frame_Shift_Del_p.E82fs|BTN2A2_uc011dkg.2_Frame_Shift_Del_p.E198fs|BTN2A2_uc011dki.1_Frame_Shift_Del_p.E41fs	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	292					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						ACTTCAAAGGGAAAAAAAGAT	0.398												
HLA-A	3105	broad.mit.edu	37	6	29911900	29911900	+	Splice_Site	DEL	C	C	-	rs75368153		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:29911899_29911899AC>A	uc003nol.3	+	4	704	c.620_splice	c.e4-1	p.D207_splice	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Splice_Site_p.D207_splice|HLA-A_uc010jrq.3_Splice_Site_p.D86_splice|HLA-A_uc003nok.3_Splice_Site_p.D86_splice|HLA-A_uc010klp.2_Splice_Site_p.D179_splice|HLA-A_uc011dmc.2_Splice_Site_p.D86_splice|HLA-A_uc011dmd.2_Splice_Site_p.D86_splice|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCCCGTCAGACCCCCCCAAG	0.577									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)		
ZNF292	23036	broad.mit.edu	37	6	87970331	87970331	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:87970330_87970330TA>T	uc003plm.4	+	7	7024	c.6983_6983TA>T	c.(6982-6984)atafs	p.I2328fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGGAAGGAATAAAAATGCCC	0.368												
AKD1	221264	broad.mit.edu	37	6	109850222	109850222	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:109850221_109850221CT>C	uc003ptn.2	-	28	3703	c.3626_3626AG>G	c.(3625-3627)aggfs	p.R1209fs	AKD1_uc011eat.1_Frame_Shift_Del_p.R288fs	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1209					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TACCTCCCTCCTTTTTTTATC	0.378												
SLC16A10	117247	broad.mit.edu	37	6	111409136	111409136	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:111409135_111409135GC>G	uc003pus.3	+	0	355	c.180_180GC>G	c.(178-180)gagfs	p.E60fs	SLC16A10_uc003pur.4_Frame_Shift_Del_p.E60fs	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	60					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		AGCCCCATGAGCCCCCCGAAC	0.756												
MYB	4602	broad.mit.edu	37	6	135518338	135518338	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:135518337_135518337GA>G	uc003qfh.3	+	9	1641	c.1442_1442GA>G	c.(1441-1443)cgafs	p.R481fs	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Intron|MYB_uc003qfk.3_Intron|MYB_uc003qfc.3_Intron|MYB_uc003qfr.3_Intron|MYB_uc003qft.3_Intron|MYB_uc003qfs.3_Intron|MYB_uc003qfw.3_Intron|MYB_uc010kgi.3_Intron|MYB_uc003qfq.3_Frame_Shift_Del_p.R478fs|MYB_uc010kgj.3_Intron|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Intron|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Intron|MYB_uc003qfv.3_Intron|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Intron|MYB_uc003qga.3_Intron|MYB_uc003qgb.3_Intron|MYB_uc010kgk.3_Intron|MYB_uc003qfd.3_Intron|MYB_uc003qfi.3_Frame_Shift_Del_p.R465fs|MYB_uc003qfe.3_Intron|MYB_uc003qfg.3_Intron|MYB_uc003qff.3_Intron|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Intron|MYB_uc003qfb.1_Intron|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	449					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GTCATCCTTCGAAAAAAACGG	0.522			T	NFIB	adenoid cystic carcinoma							
HIVEP2	3097	broad.mit.edu	37	6	143082659	143082660	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:143082658_143082659A>AT	uc003qjd.3	-	7	6305_6306	c.5562_5563T>AT	c.(5560-5565)aaatgcfs	p.K1854fs		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1854					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AATTCCAGGCATTTTTTCATGT	0.356												
SYNE1	23345	broad.mit.edu	37	6	152671800	152671800	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:152671799_152671799AT>A	uc021zhb.1	-	68	11910	c.11687_11687AT>T	c.(11686-11688)atafs	p.I3896fs	SYNE1_uc003qot.4_Frame_Shift_Del_p.I3881fs|SYNE1_uc003qou.4_Frame_Shift_Del_p.I3896fs|SYNE1_uc010kja.2_Frame_Shift_Del_p.I601fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3896					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGTTGATCTATTTTGTCCTT	0.443										HNSCC(10;0.0054)		
ARID1B	57492	broad.mit.edu	37	6	157527817	157527817	+	Frame_Shift_Del	DEL	C	C	-	rs35441529		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:157527816_157527816TC>T	uc003qqp.3	+	18	5502	c.5502_5502TC>T	c.(5500-5502)cctfs	p.P1834fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.P1847fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.P1887fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1834	Poly-Pro.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCGCCCACCTCCCCCCTTAA	0.557												
SYNJ2	8871	broad.mit.edu	37	6	158508009	158508010	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:158508008_158508009A>AC	uc003qqx.2	+	22	3436_3437	c.3330_3331A>AC	c.(3328-3333)agacccfs	p.R1110fs	SYNJ2_uc003qqw.2_Frame_Shift_Ins_p.R1110fs|SYNJ2_uc003qqy.2_Frame_Shift_Ins_p.R873fs|SYNJ2_uc003qqz.2_Frame_Shift_Ins_p.R727fs|SYNJ2_uc003qra.2_Frame_Shift_Ins_p.R453fs	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1110	Pro-rich.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCCGCAGAGACCCCCCCCTCC	0.634												
TULP4	56995	broad.mit.edu	37	6	158924563	158924564	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr6:158924562_158924563G>GC	uc003qrf.3	+	12	5224_5225	c.3867_3868G>GC	c.(3865-3870)aagcccfs	p.K1289fs	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	1289					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.E1288D(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGGTGGAGAAGCCCCTTGTGTC	0.614												
SDK1	221935	broad.mit.edu	37	7	4201429	4201429	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:4201428_4201428GC>G	uc003smx.3	+	31	4879	c.4740_4740GC>G	c.(4738-4740)gagfs	p.E1580fs	SDK1_uc010kso.3_Frame_Shift_Del_p.E856fs|SDK1_uc003smy.3_Frame_Shift_Del_p.E67fs	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1580	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		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)		TTCCAGGAGAGCCCCCGGGAT	0.592												
PKD1L1	168507	broad.mit.edu	37	7	47944773	47944773	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:47944772_47944772CT>C	uc003tny.2	-	10	1707	c.1673_1673AG>G	c.(1672-1674)agafs	p.R558fs		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	558	PKD 1.				cell-cell adhesion	integral to membrane		p.R558fs*10(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GATGCTGAGTCTTTTTTTAAT	0.443												
POM121	9883	broad.mit.edu	37	7	72409181	72409181	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:72409180_72409180TC>T	uc003twk.2	+	5	1327	c.1327_1327TC>T	c.(1327-1329)tccfs	p.S443fs	POM121_uc003twj.3_Frame_Shift_Del_p.S178fs|POM121_uc010lam.1_Frame_Shift_Del_p.S178fs	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	443	Pore side (Potential).|Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCCAGCCTCCTCCCGCTCCCA	0.527												
CROT	54677	broad.mit.edu	37	7	86978480	86978480	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:86978479_86978479TA>T	uc003uiu.3	+	2	340	c.95_95TA>T	c.(94-96)ttafs	p.L32fs	CROT_uc003uis.3_Frame_Shift_Del_p.L32fs|CROT_uc003uit.3_Frame_Shift_Del_p.L32fs	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	32					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAAGAATCATTAAAAAAATAC	0.318												
WNT16	51384	broad.mit.edu	37	7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:120971878_120971878TG>T	uc003vjw.3	+	2	750	c.493_493TG>T	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Del_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTG	0.537												
WASL	8976	broad.mit.edu	37	7	123332485	123332486	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:123332484_123332485C>CT	uc003vkz.3	-	8	1591_1592	c.1263_1264G>AG	c.(1261-1266)aaagtgfs	p.K421fs		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	421	WH2 1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCTGCTCCACTTTTTTTAGCT	0.470												
KIAA1549	57670	broad.mit.edu	37	7	138552754	138552754	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr7:138552753_138552753CG>C	uc011kql.2	-	14	4946	c.4897_4897CG>G	c.(4897-4899)ggcfs	p.G1633fs	KIAA1549_uc011kqi.2_Frame_Shift_Del_p.G417fs|KIAA1549_uc011kqk.2_Frame_Shift_Del_p.G417fs|KIAA1549_uc011kqj.2_Frame_Shift_Del_p.G1633fs	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1633						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTGTGGACGCCGGGGGGCCTC	0.632			O	BRAF	pilocytic astrocytoma							
KIAA1967	57805	broad.mit.edu	37	8	22473324	22473324	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:22473323_22473323AC>A	uc003xch.3	+	12	1755	c.1506_1506AC>A	c.(1504-1506)ccafs	p.P502fs	KIAA1967_uc003xci.3_Frame_Shift_Del_p.P502fs|KIAA1967_uc003xcj.1_Frame_Shift_Del_p.P171fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	502					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGGCCCCTCCACCCCCCCTAG	0.572												
ARFGEF1	10565	broad.mit.edu	37	8	68184034	68184034	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:68184033_68184033AT>A	uc003xxo.2	-	9	1866	c.1476_1476AT>T	c.(1474-1476)aatfs	p.N492fs		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	492					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATGAGACTCCATTTTTTGAGA	0.348												
ZFHX4	79776	broad.mit.edu	37	8	77775599	77775599	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:77775598_77775598CA>C	uc003yau.2	+	10	10035	c.9648_9648CA>C	c.(9646-9648)cccfs	p.P3216fs		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3167						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAAACACCCCAAAAAAGAGG	0.398										HNSCC(33;0.089)		
POP1	10940	broad.mit.edu	37	8	99168468	99168468	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:99168467_99168467TA>T	uc003yij.4	+	14	2347	c.2247_2247TA>T	c.(2245-2247)cctfs	p.P749fs	POP1_uc011lgv.2_Frame_Shift_Del_p.P749fs|POP1_uc003yik.3_Frame_Shift_Del_p.P749fs	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	749					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTCCCATGCCTAAAAAAACTC	0.507												
OXR1	55074	broad.mit.edu	37	8	107715191	107715191	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:107715190_107715190TA>T	uc011lht.2	+	6	834	c.735_735TA>T	c.(733-735)catfs	p.H245fs	OXR1_uc022azp.1_Frame_Shift_Del_p.H244fs|OXR1_uc003ymf.3_Frame_Shift_Del_p.H244fs|OXR1_uc011lhu.2_Frame_Shift_Del_p.H237fs|OXR1_uc010mcg.3_Intron|OXR1_uc003ymg.1_Frame_Shift_Del_p.H177fs|OXR1_uc003ymi.1_Frame_Shift_Del_p.H156fs	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	245	GRAM.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		p.E244*(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTGATCCACATAAAAATGACC	0.383												
KLHL38	340359	broad.mit.edu	37	8	124664881	124664881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:124664880_124664880TC>T	uc003yqs.1	-	0	311	c.287_287GA>A	c.(286-288)gagfs	p.E96fs		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	96	BTB.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AATATGTGCCTCCCCCGTATA	0.572												
PLEC	5339	broad.mit.edu	37	8	144993009	144993010	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr8:144993008_144993009CGA>C	uc003zaf.1	-	31	11561_11562	c.11391_11392TCG>G	c.(11389-11394)ctcgagfs	p.L3797fs	PLEC_uc003zab.1_Frame_Shift_Del_p.L3660fs|PLEC_uc003zac.1_Frame_Shift_Del_p.L3664fs|PLEC_uc003zad.2_Frame_Shift_Del_p.L3660fs|PLEC_uc003zae.1_Frame_Shift_Del_p.L3628fs|PLEC_uc003zag.1_Frame_Shift_Del_p.L3638fs|PLEC_uc003zah.2_Frame_Shift_Del_p.L3646fs|PLEC_uc003zaj.2_Frame_Shift_Del_p.L3687fs	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3797	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGTAGGTCTCGAGAGAGATGA	0.653												
ASPN	54829	broad.mit.edu	37	9	95236979	95236979	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:95236978_95236978GA>G	uc004ase.2	-	1	502	c.202_202TC>C	c.(202-204)ccafs	p.P68fs	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ASPN_uc010mqy.2_Frame_Shift_Del_p.P68fs	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	Homo sapiens asporin (ASPN), transcript variant 1, mRNA.	68	LRRNT.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						AGATCAAATGGAAAAAAATGG	0.368												
BRD3	8019	broad.mit.edu	37	9	136918529	136918530	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr9:136918528_136918529C>CG	uc004cew.3	-	1	259_260	c.71_72G>CG	c.(70-72)ccgfs	p.P24fs	BRD3_uc004cex.2_Frame_Shift_Ins_p.P24fs	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	24						nucleus	protein binding	p.P24fs*24(1)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGGAGACCTCCGGGGGGGGTGG	0.658			T	C15orf55	lethal midline carcinoma of young people							
WDR37	22884	broad.mit.edu	37	10	1170870	1170870	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:1170869_1170869CA>C	uc009xhm.1	+	12	1434	c.1261_1261CA>C	c.(1261-1263)caafs	p.Q421fs	WDR37_uc001igf.1_Frame_Shift_Del_p.Q420fs|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	Homo sapiens WD repeat domain 37 (WDR37), mRNA.	420										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		ATGTGTCGGCCAAAAAATCAT	0.493												
KIAA1274	27143	broad.mit.edu	37	10	72299505	72299505	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:72299504_72299504GC>G	uc001jrd.4	+	14	2175	c.1894_1894GC>G	c.(1894-1896)gccfs	p.A632fs	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	632										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						GGACTTCTGTGCCCCCCGAGA	0.652												
FAM175B	23172	broad.mit.edu	37	10	126517969	126517970	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr10:126517968_126517969C>CT	uc001lib.4	+	6	630_631	c.585_586C>CT	c.(583-588)gactttfs	p.D195fs		NM_032182	NP_115558	Q15018	F175B_HUMAN	Homo sapiens family with sequence similarity 175, member B (FAM175B), mRNA.	195						BRISC complex	polyubiquitin binding			NS(1)	1						CCAGTACTGACTTTTTTGACAA	0.361												
MUC6	4588	broad.mit.edu	37	11	1016540	1016543	+	Frame_Shift_Del	DEL	GAAG	GAAG	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:1016539_1016542TGAAG>T	uc001lsw.2	-	30	6310_6313	c.6259_6262CTTCA>A	c.(6259-6264)ttcatafs	p.F2087fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2087	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGGAGGATATGAAGGAAGAAGAG	0.564												
MUC5B	727897	broad.mit.edu	37	11	1251245	1251246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:1251244_1251245C>CG	uc001lta.3	+	10	1289_1290	c.1230_1231C>CG	c.(1228-1233)tccgggfs	p.S410fs	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Frame_Shift_Ins_p.S410fs	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	410					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACCTGCTCCGGGGGGCTATG	0.688												
KRTAP5-5	439915	broad.mit.edu	37	11	1651497	1651497	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:1651496_1651496TG>T	uc001lty.3	+	0	464	c.426_426TG>T	c.(424-426)tgtfs	p.C142fs	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	142	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GTGGCTCCTGTGGGGGGTCCA	0.687												
CYB5R2	51700	broad.mit.edu	37	11	7694036	7694037	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:7694035_7694036GCT>G	uc001mfm.3	-	1	259_260	c.21_22AGC>C	c.(19-24)gagccafs	p.E7fs	CYB5R2_uc001mfn.3_Non-coding_Transcript|CYB5R2_uc009yfk.3_Frame_Shift_Del_p.E7fs|CYB5R2_uc009yfl.1_Frame_Shift_Del_p.E7fs	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.	7					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	p.E7E(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGGTGATTGGCTCTCTCCTCC	0.559												
SBF2	81846	broad.mit.edu	37	11	9878270	9878270	+	Splice_Site	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:9878269_9878269TA>T	uc001mib.2	-	19	2239	c.2101_splice	c.e19-1	p.D701_splice	SBF2_uc001mif.3_Splice_Site_p.D457_splice|U80769_uc001mig.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	701					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAGCTTATCCTAAAAAATAAA	0.408												
HIPK3	10114	broad.mit.edu	37	11	33358693	33358694	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:33358692_33358693A>AT	uc001mul.1	+	3	1563_1564	c.1293_1294A>AT	c.(1291-1296)agatttfs	p.R431fs	HIPK3_uc001mum.1_Frame_Shift_Ins_p.R431fs|HIPK3_uc009yjv.1_Frame_Shift_Ins_p.R431fs|HIPK3_uc009yjw.1_Non-coding_Transcript	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	431	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.R431I(2)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AATCCACAAGATTTTTTTGCAA	0.312												
KAT5	10524	broad.mit.edu	37	11	65480454	65480455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:65480453_65480454T>TC	uc001ofi.3	+	3	475_476	c.209_210T>TC	c.(208-210)ttcfs	p.F70fs	KAT5_uc001ofj.3_Frame_Shift_Ins_p.F70fs|KAT5_uc001ofk.3_Frame_Shift_Ins_p.F103fs|KAT5_uc010roo.2_Frame_Shift_Ins_p.F103fs|KAT5_uc001ofl.3_5'UTR	NM_006388	NP_006379	Q92993	KAT5_HUMAN	Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.	70					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|androgen receptor signaling pathway|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AAGATCCAGTTCCCCAAGAAAG	0.554												
KLC2	64837	broad.mit.edu	37	11	66033656	66033656	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:66033655_66033655AG>A	uc010rov.1	+	13	1937	c.1694_1694AG>A	c.(1693-1695)cagfs	p.Q565fs	KLC2_uc010row.1_Frame_Shift_Del_p.Q565fs|KLC2_uc001ohb.2_Frame_Shift_Del_p.Q565fs|KLC2_uc010rox.1_Frame_Shift_Del_p.Q488fs|KLC2_uc001ohc.2_Frame_Shift_Del_p.Q565fs|KLC2_uc001ohd.2_Frame_Shift_Del_p.Q488fs|KLC2_uc001ohe.1_Frame_Shift_Del_p.Q426fs|RAB1B_uc001ohf.3_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	565					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AAGAAGCTGCAGGGGGGCACC	0.647												
RSF1	51773	broad.mit.edu	37	11	77413116	77413116	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:77413115_77413115GT>G	uc001oyn.3	-	5	1279	c.1159_1159AC>C	c.(1159-1161)cgafs	p.R387fs	RSF1_uc001oym.3_Frame_Shift_Del_p.R135fs	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	387					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTAATTTCTCGTTTTTTTAGT	0.338												
FAT3	120114	broad.mit.edu	37	11	92258089	92258090	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:92258088_92258089A>AT	uc001pdj.4	+	1	3598_3599	c.3581_3582A>AT	c.(3580-3582)aatfs	p.N1194fs		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1194	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATCCTCAGAATTTTTTTGCCA	0.381										TCGA Ovarian(4;0.039)		
ATM	472	broad.mit.edu	37	11	108114817	108114818	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:108114816_108114817C>CT	uc001pkb.1	+	5	1018_1019	c.633_634C>CT	c.(631-636)gactttfs	p.D211fs	ATM_uc009yxr.1_Frame_Shift_Ins_p.D211fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	211					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AATTTTTGGACTTTTTTTCCAA	0.342			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)		
MLL	4297	broad.mit.edu	37	11	118344186	118344187	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:118344185_118344186A>AC	uc001pta.3	+	2	2334_2335	c.2311_2312A>AC	c.(2311-2313)accfs	p.T771fs	MLL_uc001ptb.3_Frame_Shift_Ins_p.T771fs|MLL_uc001psz.1_Frame_Shift_Ins_p.T804fs|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	771					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTCACCTCTCACCCCCCCGTCT	0.450			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""							
TMEM25	84866	broad.mit.edu	37	11	118405013	118405015	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:118405012_118405014GAAC>G	uc001ptk.4	+	7	1140_1142	c.966_968GAAC>G	c.(964-969)cagaac>caGc	p.N324del	TMEM25_uc010ryf.2_In_Frame_Del_p.N228del|TMEM25_uc010rye.2_In_Frame_Del_p.N325del|TMEM25_uc009zad.3_In_Frame_Del_p.N281del|TMEM25_uc001pth.3_In_Frame_Del_p.N281del|TMEM25_uc001pti.3_In_Frame_Del_p.N177del|TMEM25_uc001ptl.2_In_Frame_Del_p.N325del|TMEM25_uc001ptm.2_In_Frame_Del_p.N280del	NM_001144037	NP_001137509	Q86YD3	TMM25_HUMAN	Homo sapiens transmembrane protein 25 (TMEM25), transcript variant 4, mRNA.	325						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGATGGCTCAGAACAACAGCCGG	0.655												
UPK2	7379	broad.mit.edu	37	11	118827661	118827661	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:118827660_118827660GC>G	uc001puh.3	+	1	197	c.144_144GC>G	c.(142-144)ttgfs	p.L48fs		NM_006760	NP_006751	O00526	UPK2_HUMAN	Homo sapiens uroplakin 2 (UPK2), mRNA.	48					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TGGTTGCCTTGCCCCCCTGTC	0.602											OREG0021391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MCAM	4162	broad.mit.edu	37	11	119185618	119185619	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:119185617_119185618T>TG	uc001pwf.3	-	2	354_355	c.325_326A>CA	c.(325-327)caafs	p.Q109fs		NM_006500	NP_006491	P43121	MUC18_HUMAN	Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.	109	Ig-like V-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GCGCTCGTCTTGGGGGGTGACT	0.658												
PRDM10	56980	broad.mit.edu	37	11	129780429	129780430	+	In_Frame_Ins	INS	-	-	CTG	rs113169112		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:129780428_129780429T>TCTG	uc001qfm.3	-	19	3349_3350	c.3117_3118A>CAGA	c.(3115-3120)cagaat>caCAGAat	p.1039_1040QN>HR	PRDM10_uc001qfj.3_In_Frame_Ins_p.940_941QN>HR|PRDM10_uc001qfk.3_In_Frame_Ins_p.902_903QN>HR|PRDM10_uc001qfl.3_In_Frame_Ins_p.953_954QN>HR|PRDM10_uc010sbx.2_In_Frame_Ins_p.949_950QN>HR|PRDM10_uc001qfn.3_In_Frame_Ins_p.1035_1036QN>HR	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	1026					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ACAGAGGAATTctgctgctgct	0.614												
NCAPD3	23310	broad.mit.edu	37	11	134048586	134048586	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr11:134048585_134048585TG>T	uc001qhd.1	-	21	3332	c.2726_2726CA>A	c.(2725-2727)cagfs	p.Q909fs	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGG	0.522												
NCAPD2	9918	broad.mit.edu	37	12	6635473	6635473	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:6635472_6635472AC>A	uc001qoo.2	+	19	2547	c.2501_2501AC>A	c.(2500-2502)cacfs	p.H834fs	NCAPD2_uc009zen.1_Frame_Shift_Del_p.H706fs|NCAPD2_uc010sfd.1_Frame_Shift_Del_p.H789fs	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	834					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GGCAAACGTCACCCCCCCTTC	0.572												
C1R	715	broad.mit.edu	37	12	7242010	7242011	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:7242009_7242010AGG>A	uc010sfy.2	-	4	706_707	c.647_648CCT>T	c.(646-648)cctfs	p.P216fs	C1R_uc010sfz.1_Frame_Shift_Del_p.P230fs|C1R_uc021quh.1_Frame_Shift_Del_p.P105fs|C1R_uc010sga.1_Frame_Shift_Del_p.P182fs	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	216	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.P230fs*100(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCGCAGGTCAGGGGGGTAGGA	0.594												
TAS2R42	353164	broad.mit.edu	37	12	11338799	11338800	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:11338798_11338799G>GA	uc001qzr.1	-	0	745_746	c.745_746C>TC	c.(745-747)tccfs	p.S249fs	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	Homo sapiens taste receptor, type 2, member 42 (TAS2R42), mRNA.	249					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			CACTTGTAAGGAAAAAAAATGA	0.421												
ARHGAP9	64333	broad.mit.edu	37	12	57870384	57870384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:57870383_57870383GC>G	uc001sod.3	-	9	1421	c.1228_1228GC>C	c.(1228-1230)cgcfs	p.R410fs	ARHGAP9_uc001sny.3_5'Flank|ARHGAP9_uc001snz.3_Frame_Shift_Del_p.R155fs|ARHGAP9_uc001soa.3_Frame_Shift_Del_p.R9fs|ARHGAP9_uc001sob.3_Frame_Shift_Del_p.R339fs|ARHGAP9_uc001soc.3_Frame_Shift_Del_p.R339fs|ARHGAP9_uc001soe.1_Frame_Shift_Del_p.R418fs	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	339	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CTGAGCTTGCGCCCCCCTTGG	0.562												
USP15	9958	broad.mit.edu	37	12	62687994	62687995	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:62687993_62687994G>GA	uc001src.2	+	1	198_199	c.123_124G>GA	c.(121-126)tggaaafs	p.W41fs	USP15_uc001srb.2_Frame_Shift_Ins_p.W41fs|USP15_uc010ssj.2_Frame_Shift_Ins_p.W41fs|USP15_uc010ssk.2_Frame_Shift_Ins_p.W41fs|USP15_uc001sra.3_Frame_Shift_Ins_p.W41fs	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	41	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCAAACAGTGGAAAAAATATGT	0.376												
APPL2	55198	broad.mit.edu	37	12	105600965	105600966	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr12:105600964_105600965CTT>C	uc010swu.1	-	7	731_732	c.513_514AAG>G	c.(511-516)aaagagfs	p.K171fs	APPL2_uc010swt.2_Frame_Shift_Del_p.K122fs|APPL2_uc001tlf.1_Frame_Shift_Del_p.K165fs|APPL2_uc001tlg.1_5'UTR|APPL2_uc009zuq.3_Frame_Shift_Del_p.K122fs	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	165	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCGGCCACCTCTTTTCCGACTT	0.510												
ATP12A	479	broad.mit.edu	37	13	25280558	25280558	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:25280557_25280557TC>T	uc010aaa.3	+	14	2476	c.2143_2143TC>T	c.(2143-2145)tccfs	p.S715fs	ATP12A_uc001upp.3_Frame_Shift_Del_p.S709fs	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	709					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGCCCGGACATCCCCCCAGCA	0.572												
NBEA	26960	broad.mit.edu	37	13	35733663	35733664	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:35733662_35733663T>TA	uc021rid.1	+	21	3888_3889	c.3354_3355T>TA	c.(3352-3357)attaaafs	p.I1118fs	NBEA_uc021ric.1_Frame_Shift_Ins_p.I1118fs|NBEA_uc010abi.3_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1118						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGGTATCATTAAAAAAAATGA	0.356												
SPG20	23111	broad.mit.edu	37	13	36909272	36909272	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:36909271_36909271CA>C	uc001uvn.3	-	2	967	c.697_697TG>G	c.(697-699)gtafs	p.V233fs	SPG20_uc010ten.2_Frame_Shift_Del_p.V233fs|SPG20_uc001uvm.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvo.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvq.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvp.2_Frame_Shift_Del_p.V233fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	233					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GCAGGATTTACAAAAAAAATC	0.438												
PCDH20	64881	broad.mit.edu	37	13	61986571	61986572	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:61986570_61986571C>CA	uc001vid.4	-	1	2025_2026	c.1661_1662G>TG	c.(1660-1662)ttgfs	p.L554fs	PCDH20_uc010thj.2_Frame_Shift_Ins_p.L554fs	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	527	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACAGCTTAGTCAAAAAGGCATT	0.401												
UBAC2	337867	broad.mit.edu	37	13	99966382	99966382	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr13:99966381_99966381AT>A	uc010tiu.2	+	4	821	c.486_486AT>A	c.(484-486)ccafs	p.P162fs	UBAC2_uc001voa.4_Frame_Shift_Del_p.P140fs|UBAC2_uc001vob.4_Frame_Shift_Del_p.P113fs|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Frame_Shift_Del_p.P27fs|UBAC2_uc001voc.3_Frame_Shift_Del_p.P105fs|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|UBAC2_uc001voh.3_5'UTR	NM_177967	NP_808882	Q8NBM4	UBAC2_HUMAN	Homo sapiens UBA domain containing 2 (UBAC2), transcript variant 2, mRNA.	140						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTTTGTACCATTTTACTGCT	0.373												
IPO4	79711	broad.mit.edu	37	14	24652234	24652234	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:24652233_24652233AG>A	uc001wmv.1	-	22	3391	c.2370_2370CT>T	c.(2368-2370)cctfs	p.P790fs	IPO4_uc001wmt.1_Frame_Shift_Del_p.P268fs|IPO4_uc001wmu.2_Frame_Shift_Del_p.P452fs|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Frame_Shift_Del_p.P654fs|IPO4_uc001wmy.1_Frame_Shift_Del_p.P654fs|IPO4_uc001wmz.2_Frame_Shift_Del_p.P790fs	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	790					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CGAGGCGCCCAGGGGGCTTCA	0.672												
NFATC4	4776	broad.mit.edu	37	14	24838800	24838800	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:24838799_24838799AC>A	uc001wpc.3	+	1	516	c.195_195AC>A	c.(193-195)ccafs	p.P65fs	NFATC4_uc010alr.3_Frame_Shift_Del_p.P128fs|NFATC4_uc010tok.2_Frame_Shift_Del_p.P128fs|NFATC4_uc010tol.2_Frame_Shift_Del_p.P128fs|NFATC4_uc010als.2_Frame_Shift_Del_p.P78fs|NFATC4_uc010too.2_Frame_Shift_Del_p.P78fs|NFATC4_uc010tom.2_Frame_Shift_Del_p.P78fs|NFATC4_uc010ton.2_Frame_Shift_Del_p.P78fs|NFATC4_uc010toq.2_Frame_Shift_Del_p.P97fs|NFATC4_uc010alt.3_Frame_Shift_Del_p.P97fs|NFATC4_uc010top.2_Frame_Shift_Del_p.P97fs|NFATC4_uc010alu.3_Frame_Shift_Del_p.P65fs|NFATC4_uc010tor.2_Frame_Shift_Del_p.P65fs|NFATC4_uc010tos.2_5'UTR|NFATC4_uc010tot.2_Frame_Shift_Del_p.P53fs|NFATC4_uc010tou.2_5'UTR|NFATC4_uc010tov.2_Frame_Shift_Del_p.P53fs|NFATC4_uc010tow.2_5'UTR|NFATC4_uc010alv.3_Frame_Shift_Del_p.P53fs|NFATC4_uc010tox.2_5'UTR	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	65	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCGACCTCCACCCCCTCGGC	0.687												
ARHGAP5	394	broad.mit.edu	37	14	32562346	32562347	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:32562345_32562346G>GA	uc001wrl.3	+	1	2709_2710	c.2470_2471G>GA	c.(2470-2472)gaafs	p.E824fs	ARHGAP5_uc001wrm.3_Frame_Shift_Ins_p.E824fs|ARHGAP5_uc001wrn.3_Frame_Shift_Ins_p.E824fs|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	824					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	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)		AATCATTGGTGAAAAAAGGAGG	0.361												
YLPM1	56252	broad.mit.edu	37	14	75265533	75265533	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:75265532_75265532GA>G	uc001xqj.4	+	4	3656	c.3532_3532GA>G	c.(3532-3534)gaafs	p.E1178fs	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	983	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGATGGTGGGGAAAAAATGTA	0.517												
AHNAK2	113146	broad.mit.edu	37	14	105419812	105419812	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr14:105419811_105419811CT>C	uc010axc.1	-	6	2097	c.1977_1977AG>G	c.(1975-1977)aagfs	p.K659fs	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Frame_Shift_Del_p.K559fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	659						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAATTTGTTCCTTTTTTAAGC	0.418												
HERC2	8924	broad.mit.edu	37	15	28386693	28386693	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:28386692_28386692GC>G	uc001zbj.3	-	77	12007	c.11901_11901GC>C	c.(11899-11901)ggcfs	p.G3967fs		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3967					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			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		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)		CGCCTTCAATGCCCCCGAGCT	0.527												
SLC30A4	7782	broad.mit.edu	37	15	45803424	45803426	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:45803423_45803425GGTC>G	uc001zvj.3	-	2	761_763	c.449_451GACC>C	c.(448-453)gaccta>gCta	p.150_151DL>A	HMGN2P46_uc001zvk.3_Intron|HMGN2P46_uc010beg.1_Intron|HMGN2P46_uc010beh.1_Intron|HMGN2P46_uc010bei.1_Intron|HMGN2P46_uc010bej.1_Intron|HMGN2P46_uc001zvn.1_Intron|HMGN2P46_uc001zvm.1_Intron	NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	150					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		ATGGCGCTTAGGTCAGTTAACAT	0.389												
FBN1	2200	broad.mit.edu	37	15	48797224	48797225	+	Splice_Site	DEL	AC	AC	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:48797223_48797224AAC>A	uc001zwx.2	-	16	2355	c.1960_splice	c.e16+1	p.D654_splice		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	654			D -> N (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTTCTTACCAACACACACACG	0.490												
VPS13C	54832	broad.mit.edu	37	15	62208112	62208112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:62208111_62208111GT>G	uc002agz.3	-	60	8257	c.8166_8166AC>C	c.(8164-8166)aacfs	p.N2722fs	VPS13C_uc002aha.3_Frame_Shift_Del_p.N2679fs|VPS13C_uc002ahb.2_Frame_Shift_Del_p.N2722fs|VPS13C_uc002ahc.2_Frame_Shift_Del_p.N2679fs|VPS13C_uc002ahd.1_Frame_Shift_Del_p.N99fs	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2722					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTCCATTCCAGTTTTTGCCCT	0.448												
NEIL1	79661	broad.mit.edu	37	15	75644674	75644674	+	Frame_Shift_Del	DEL	C	C	-	rs34322656		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:75644673_75644673TC>T	uc002bae.3	+	3	974	c.821_821TC>T	c.(820-822)atcfs	p.I274fs	NEIL1_uc002bad.3_Frame_Shift_Del_p.I188fs	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA.	188					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|protein C-terminus binding|zinc ion binding	p.R274R(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGGCTGAAGATCCCCCCCTTT	0.647								Base excision repair (BER), DNA glycosylases				
IL16	3603	broad.mit.edu	37	15	81598461	81598462	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:81598460_81598461ACT>A	uc021ssh.1	+	15	3733_3734	c.3632_3633ACT>A	c.(3631-3633)gacfs	p.D1211fs	IL16_uc010blq.1_Frame_Shift_Del_p.D1165fs|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Frame_Shift_Del_p.D1253fs|IL16_uc002bgg.3_Frame_Shift_Del_p.D1211fs|IL16_uc002bgi.1_Frame_Shift_Del_p.D601fs|IL16_uc002bgj.3_Frame_Shift_Del_p.D705fs|IL16_uc021ssi.1_Frame_Shift_Del_p.D510fs|IL16_uc002bgl.1_Frame_Shift_Del_p.D510fs|IL16_uc010unq.1_Frame_Shift_Del_p.D510fs	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	1211					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCCTCCACTGACTCTGCAGCCT	0.559												
C15orf42	90381	broad.mit.edu	37	15	90168411	90168411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:90168410_90168410AC>A	uc002boe.3	+	19	4869	c.4869_4869AC>A	c.(4867-4869)tcafs	p.S1623fs	C15orf42_uc021sug.1_Frame_Shift_Del_p.S1622fs	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1623					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	p.S1623S(2)		NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTATGTGTCACCCCCCTGCC	0.627												
KIF7	374654	broad.mit.edu	37	15	90171812	90171812	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr15:90171811_90171811CG>C	uc002bof.2	-	18	3948	c.3871_3871CG>G	c.(3871-3873)gagfs	p.E1291fs	KIF7_uc010upw.1_Frame_Shift_Del_p.E777fs	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	1291					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCAGTTCCTCGGGGGACCCC	0.692												
MSLN	10232	broad.mit.edu	37	16	814677	814677	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:814676_814676GC>G	uc002cjw.2	+	5	441	c.330_330GC>G	c.(328-330)gagfs	p.E110fs	MSLN_uc002cju.1_Frame_Shift_Del_p.E110fs|MSLN_uc002cjt.1_Frame_Shift_Del_p.E110fs|MSLN_uc010brd.1_Frame_Shift_Del_p.E109fs|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	110					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGCTCTCTGAGCCCCCCGAGG	0.687												
CREBBP	1387	broad.mit.edu	37	16	3824616	3824617	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:3824615_3824616T>TG	uc002cvv.3	-	11	2441_2442	c.2237_2238A>CA	c.(2236-2238)ccafs	p.P746fs	CREBBP_uc002cvw.3_Frame_Shift_Ins_p.P708fs	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	746					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGTGGTTCATTGGGGAGGCTGC	0.530			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome					
ZP2	7783	broad.mit.edu	37	16	21222918	21222918	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:21222917_21222917GT>G	uc010bwn.1	-	0	151	c.69_69AC>C	c.(67-69)aacfs	p.N23fs	ZP2_uc002dii.2_5'UTR|ZP2_uc010bwo.3_Frame_Shift_Del_p.N23fs	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	0					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GCTGCTCTGTGTTTTTATAGC	0.557												
PALB2	79728	broad.mit.edu	37	16	23647028	23647028	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:23647027_23647027GT>G	uc002dlx.1	-	3	1040	c.840_840AC>C	c.(838-840)aacfs	p.N280fs		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	280	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.K279K(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAAATCTAATGTTTTTTAGGT	0.393			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks				
ARHGAP17	55114	broad.mit.edu	37	16	24942188	24942188	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:24942187_24942187TG>T	uc002dnb.3	-	18	2526	c.2433_2433CA>A	c.(2431-2433)ccafs	p.P811fs	ARHGAP17_uc002dmw.3_Frame_Shift_Del_p.P73fs|ARHGAP17_uc002dmy.3_Frame_Shift_Del_p.P256fs|ARHGAP17_uc002dmz.3_Frame_Shift_Del_p.P335fs|ARHGAP17_uc002dna.3_Frame_Shift_Del_p.P538fs|ARHGAP17_uc002dnc.3_Frame_Shift_Del_p.P733fs|ARHGAP17_uc010vcf.2_Frame_Shift_Del_p.P554fs	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	811	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GTTGGGGGGGTGGGGGCACGC	0.587												
ZNF48	197407	broad.mit.edu	37	16	30409299	30409299	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:30409298_30409298CG>C	uc002dya.2	+	1	1103	c.727_727CG>C	c.(727-729)cggfs	p.R243fs	ZNF48_uc021tgi.1_Frame_Shift_Del_p.R243fs|ZNF48_uc021tgj.1_Frame_Shift_Del_p.R120fs|ZNF48_uc021tgk.1_Frame_Shift_Del_p.R243fs	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R243W(2)|p.R243L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GCGGACACACCGGGGGGAGCA	0.647												
FBRS	64319	broad.mit.edu	37	16	30680911	30680911	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:30680910_30680910GC>G	uc002dzd.4	+	11	1590	c.1327_1327GC>G	c.(1327-1329)gccfs	p.A443fs	FBRS_uc002dzc.4_Frame_Shift_Del_p.A355fs	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	443										ovary(1)	1			Colorectal(24;0.103)			GCTTGTGCCCGCCCCCCGGCC	0.716												
SRCAP	10847	broad.mit.edu	37	16	30745021	30745022	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:30745020_30745021CTG>C	uc002dze.1	+	28	6780_6781	c.6395_6396CTG>C	c.(6394-6396)actfs	p.T2132fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.T1927fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2132	Helicase C-terminal.				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	p.D2131N(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGAGCAGACACTGTTGTTTTTT	0.525												
ZNF668	79759	broad.mit.edu	37	16	31072732	31072732	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:31072731_31072731AC>A	uc021tgt.1	-	3	1943	c.1587_1587GT>T	c.(1585-1587)ggtfs	p.G529fs	ZNF668_uc010cag.2_Frame_Shift_Del_p.G506fs|ZNF668_uc010caf.3_Frame_Shift_Del_p.G506fs|ZNF668_uc002eao.3_Frame_Shift_Del_p.G506fs	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAGCCTCCTCACCCCCCGCCT	0.652												
CIAPIN1	57019	broad.mit.edu	37	16	57473215	57473217	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:57473214_57473216AAAT>A	uc002ell.1	-	2	359_361	c.188_190ATTT>T	c.(187-192)attttg>aTtg	p.L64del	CIAPIN1_uc002elm.1_Intron|CIAPIN1_uc010vhm.1_In_Frame_Del_p.L64del	NM_020313	NP_064709	Q6FI81	CPIN1_HUMAN	Homo sapiens cytokine induced apoptosis inhibitor 1 (CIAPIN1), mRNA.	64					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AAACCTGACAAAATAATGTCAAA	0.493												
CTCF	10664	broad.mit.edu	37	16	67645339	67645340	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:67645338_67645339C>CA	uc002etl.3	+	2	1047_1048	c.603_604C>CA	c.(601-606)gccaaafs	p.A201fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	201					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCACCAGCCAAAAAAACAAA	0.475												
MTHFSD	64779	broad.mit.edu	37	16	86582174	86582174	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:86582173_86582173GT>G	uc002fjn.3	-	3	299	c.248_248AC>C	c.(247-249)acafs	p.T83fs	MTHFSD_uc002fjm.3_Frame_Shift_Del_p.T82fs|MTHFSD_uc010voo.2_Frame_Shift_Del_p.T63fs|MTHFSD_uc010vop.2_5'UTR|MTHFSD_uc010voq.2_Frame_Shift_Del_p.T82fs|MTHFSD_uc010vor.2_Frame_Shift_Del_p.T83fs|MTHFSD_uc002fjo.3_5'UTR|MTHFSD_uc002fjp.2_Frame_Shift_Del_p.T63fs	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA.	83					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						AACCAACAATGTTTTTTTGCT	0.358												
ZC3H18	124245	broad.mit.edu	37	16	88691141	88691142	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr16:88691140_88691141A>ACC	uc010voz.2	+	12	2301_2302	c.2101_2102A>ACC	c.(2101-2103)accfs	p.T701fs	ZC3H18_uc002fky.3_Frame_Shift_Ins_p.T677fs|ZC3H18_uc010chw.3_Non-coding_Transcript|ZC3H18_uc002fkz.3_5'Flank	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	677	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding	p.R680fs*5(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCAGCCAGGACCCCCCCCAGG	0.663												
DVL2	1856	broad.mit.edu	37	17	7129594	7129594	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7129593_7129593GC>G	uc002gez.1	-	14	2084	c.1802_1802GC>C	c.(1801-1803)gcafs	p.A601fs	MIR324_uc002gey.2_5'Flank|DVL2_uc010vtr.1_Frame_Shift_Del_p.A595fs	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	601					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	p.A601fs*80(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CGTGCGCCCTGCCCCCCCATC	0.726												
TP53	7157	broad.mit.edu	37	17	7577036	7577036	+	Frame_Shift_Del	DEL	G	G	-	rs72661120		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:7577035_7577035TG>T	uc002gim.2	-	7	1097	c.903_903CA>A	c.(901-903)ccafs	p.P301fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.P301fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.P169fs|TP53_uc010cnf.1_Frame_Shift_Del_p.P169fs|TP53_uc002gii.1_Frame_Shift_Del_p.P169fs|TP53_uc010cni.1_Frame_Shift_Del_p.P301fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P301fs|TP53_uc002gij.2_Frame_Shift_Del_p.P301fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	301	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P301fs*44(9)|p.0?(8)|p.P300L(6)|p.G302fs*4(5)|p.P301P(4)|p.P301S(3)|p.P300S(3)|p.?(3)|p.P301fs*5(3)|p.P300A(2)|p.H296_S303delHHELPPGS(2)|p.P301_S303delPGS(2)|p.L265_K305del41(2)|p.E298_P301delELPP(2)|p.P300P(1)|p.P300fs*44(1)|p.P300R(1)|p.G293fs*1(1)|p.P300fs*6(1)|p.L299fs*2(1)|p.P301fs*45(1)|p.P301fs*?(1)|p.P301Q(1)|p.P301T(1)|p.P301L(1)|p.P301A(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TAGTGCTCCCTGGGGGCAGCT	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
ARHGEF15	22899	broad.mit.edu	37	17	8224298	8224299	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:8224297_8224298G>GC	uc002glc.3	+	15	2667_2668	c.2512_2513G>GC	c.(2512-2514)gccfs	p.A838fs	ARHGEF15_uc002gld.3_Frame_Shift_Ins_p.A838fs|ARHGEF15_uc010vuw.2_Frame_Shift_Ins_p.A727fs	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	838					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCCCAATGCCCCCCCACCC	0.574												
EVI2B	2124	broad.mit.edu	37	17	29632035	29632035	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:29632034_29632034GT>G	uc010csq.2	-	2	822	c.639_639AC>C	c.(637-639)aacfs	p.N213fs	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Frame_Shift_Del_p.N198fs|EVI2B_uc021tuk.1_Frame_Shift_Del_p.N198fs	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	198						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)|p.N199fs*3(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		AATTATAATTGTTTTTTTGTG	0.353												
NF1	4763	broad.mit.edu	37	17	29670156	29670156	+	Splice_Site	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:29670155_29670155TA>T	uc002hgg.3	+	48	7572	c.7189_splice	c.e48+2	p.G2397_splice	NF1_uc002hgh.3_Splice_Site_p.G2376_splice|NF1_uc010cso.3_Splice_Site_p.G585_splice|NF1_uc010wbt.1_Splice_Site|NF1_uc010wbu.1_Splice_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2397					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTAAAAGGTAAAAAAGCCT	0.318			"""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)		
TMEM132E	124842	broad.mit.edu	37	17	32957032	32957033	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:32957031_32957032CAG>C	uc002hif.3	+	5	1401_1402	c.1073_1074CAG>C	c.(1072-1074)acafs	p.T358fs		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	358						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CTGCAGGACACAGAGATCATCA	0.624												
GAS2L2	246176	broad.mit.edu	37	17	34072083	34072083	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:34072082_34072082TG>T	uc002hjv.2	-	5	2462	c.2434_2434CA>A	c.(2434-2436)aagfs	p.K812fs		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	812					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCCTGTCCTTGGGGGGCTGC	0.632												
CDK12	51755	broad.mit.edu	37	17	37687472	37687472	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:37687471_37687471TG>T	uc010cvv.3	+	13	4961	c.4375_4375TG>T	c.(4375-4377)tggfs	p.W1459fs	CDK12_uc002hrw.4_Frame_Shift_Del_p.W1450fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1459					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCCTTCACTGGGGGGGCCC	0.557			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)		
KCNH4	23415	broad.mit.edu	37	17	40328259	40328260	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:40328258_40328259A>AC	uc002hzb.2	-	4	975_976	c.642_643T>GT	c.(640-645)gggtctfs	p.G214fs		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	214					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604												
LSM12	124801	broad.mit.edu	37	17	42141192	42141192	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:42141191_42141191AG>A	uc002iev.3	-	2	559	c.236_236CT>T	c.(235-237)ctafs	p.L79fs	LSM12_uc010wit.2_Intron|LSM12_uc002iew.1_Non-coding_Transcript	NM_152344	NP_689557	Q3MHD2	LSM12_HUMAN	Homo sapiens LSM12 homolog (S. cerevisiae) (LSM12), mRNA.	79							protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GAGTGAAGCTAGGGGAGGAGG	0.423												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602												
BZRAP1	9256	broad.mit.edu	37	17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653												
RNF43	54894	broad.mit.edu	37	17	56435591	56435592	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:56435590_56435591T>TC	uc002iwf.3	-	7	3502_3503	c.1546_1547A>GA	c.(1546-1548)gatfs	p.D516fs	RNF43_uc010wnv.2_Frame_Shift_Ins_p.D475fs|RNF43_uc002iwh.4_Frame_Shift_Ins_p.D516fs|RNF43_uc002iwg.4_Frame_Shift_Ins_p.D516fs|RNF43_uc010dcw.3_Frame_Shift_Ins_p.D389fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	516						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGCTGGGGATCCCCTTTAGGG	0.589												
PSMD12	5718	broad.mit.edu	37	17	65353654	65353655	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:65353653_65353654CAG>C	uc002jfy.3	-	1	235_236	c.149_150CTG>G	c.(148-150)ctgfs	p.L50fs	PSMD12_uc002jga.3_Intron|PSMD12_uc002jfz.3_5'UTR|PSMD12_uc010det.1_Frame_Shift_Del_p.L50fs	NM_002816	NP_002807	O00232	PSD12_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 (PSMD12), transcript variant 1, mRNA.	50					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TCTGCTTTTCCAGAGAGAGAAG	0.327												
SOX9	6662	broad.mit.edu	37	17	70119910	70119910	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:70119909_70119909CG>C	uc002jiw.3	+	2	1283	c.911_911CG>C	c.(910-912)ccgfs	p.P304fs	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	304					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AACGGCCACCCGGGGGTGCCG	0.682												
TMEM104	54868	broad.mit.edu	37	17	72791152	72791152	+	Splice_Site	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:72791151_72791151TG>T	uc002jls.4	+	7	590	c.428_splice	c.e7-1	p.V143_splice	TMEM104_uc010wrf.1_Splice_Site_p.V143_splice|TMEM104_uc010wrg.1_Splice_Site_p.V156_splice|TMEM104_uc010dfx.3_Splice_Site_p.V143_splice	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	143						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TTCCTTTCAGTGGGGGTCAAC	0.463												
EVPL	2125	broad.mit.edu	37	17	74004912	74004914	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:74004911_74004913TCTC>T	uc010wss.1	-	21	4667_4669	c.4439_4441GAGA>A	c.(4438-4443)gagaag>gAag	p.K1481del	EVPL_uc002jqi.2_In_Frame_Del_p.K1459del|EVPL_uc010wst.1_In_Frame_Del_p.K929del	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1459	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ATGATGATCTTCTCCTGCACCGT	0.626												
CCDC57	284001	broad.mit.edu	37	17	80141781	80141782	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr17:80141780_80141781A>AT	uc002kdx.1	-	7	1117_1118	c.1080_1081T>AT	c.(1078-1083)aaatctfs	p.K360fs	CCDC57_uc010dik.1_5'UTR|CCDC57_uc002kdz.1_Frame_Shift_Ins_p.K360fs	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	360										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	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)			TCCCAGGCAGATTTTACAGTTG	0.455												
ZNF709	163051	broad.mit.edu	37	19	12638030	12638031	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:12638029_12638030CTT>C	uc002mty.3	-	3	1102_1103	c.892_893AAG>G	c.(892-894)agtfs	p.S298fs	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						AATCATATGACTTTGAAAATTT	0.381												
ZNF43	7594	broad.mit.edu	37	19	21992087	21992087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:21992086_21992086AT>A	uc002nqj.3	-	3	883	c.753_753AT>T	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATCTAGTATAATTTTTTTTAT	0.348												
MLL2	8085	broad.mit.edu	37	19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C	rs60207923	by1000genomes	TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
ZNF420	147923	broad.mit.edu	37	19	37618888	37618888	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:37618887_37618887GA>G	uc002ofl.3	+	4	1209	c.994_994GA>G	c.(994-996)gaafs	p.E332fs		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	Homo sapiens zinc finger protein 420 (ZNF420), mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATAATGGGGAAAAACCATA	0.393												
RTN2	6253	broad.mit.edu	37	19	45996513	45996513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:45996512_45996512AG>A	uc002pcb.3	-	4	1169	c.939_939CT>T	c.(937-939)cctfs	p.P313fs	RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	313						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGACAGGAGTAGGGGGGGTGG	0.572												
GYS1	2997	broad.mit.edu	37	19	49477974	49477974	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr19:49477973_49477973AG>A	uc002plp.3	-	10	1567	c.1326_1326CT>T	c.(1324-1326)cctfs	p.P442fs	GYS1_uc010emm.3_Frame_Shift_Del_p.P378fs|GYS1_uc010xzz.2_Frame_Shift_Del_p.P362fs|GYS1_uc010yaa.1_Non-coding_Transcript|Mir_324_uc021uxe.1_5'Flank	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	442					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GGGTGCACACAGGGGGGAAAG	0.587												
TOP1	7150	broad.mit.edu	37	20	39721180	39721180	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr20:39721179_39721179GC>G	uc002xjl.3	+	8	928	c.682_682GC>G	c.(682-684)gccfs	p.A228fs	TOP1_uc010gge.1_Non-coding_Transcript	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	228					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TCCAGTATTTGCCCCACCATA	0.413			T	NUP98	AML*							
TRAPPC10	7109	broad.mit.edu	37	21	45507747	45507748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:45507746_45507747G>GC	uc002zea.3	+	16	2875_2876	c.2706_2707G>GC	c.(2704-2709)gagcccfs	p.E902fs	TRAPPC10_uc010gpo.3_Frame_Shift_Ins_p.E613fs|TRAPPC10_uc011afa.2_Frame_Shift_Ins_p.E280fs|TRAPPC10_uc011afb.1_5'Flank	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	902					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GGATGGCAGAGCCCCACAGGAA	0.554												
TRAPPC10	7109	broad.mit.edu	37	21	45514004	45514004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr21:45514003_45514003TC>T	uc002zea.3	+	19	3226	c.3057_3057TC>T	c.(3055-3057)cctfs	p.P1019fs	TRAPPC10_uc010gpo.3_Frame_Shift_Del_p.P730fs|TRAPPC10_uc011afa.2_Frame_Shift_Del_p.P397fs|TRAPPC10_uc011afb.1_Frame_Shift_Del_p.P124fs	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1019					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGAAGAGCCTCCCCCTTCTC	0.498												
TFIP11	24144	broad.mit.edu	37	22	26890229	26890231	+	In_Frame_Del	DEL	CTC	CTC	-	rs145696489		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:26890228_26890230TCTC>T	uc003acr.2	-	12	2407_2409	c.2033_2035GAGA>A	c.(2032-2037)gagatc>gAtc	p.678_679EI>D	TFIP11_uc003acq.2_In_Frame_Del_p.37_38EI>D|TFIP11_uc003acs.2_In_Frame_Del_p.678_679EI>D|TFIP11_uc003act.2_In_Frame_Del_p.678_679EI>D	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	678					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CACTTGGTGATCTCCTCATAATT	0.438												
CHEK2	11200	broad.mit.edu	37	22	29091778	29091778	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:29091777_29091777CA>C	uc003adu.1	-	10	1252	c.1180_1180TG>G	c.(1180-1182)gaafs	p.E394fs	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Frame_Shift_Del_p.E173fs|CHEK2_uc010gvh.1_Frame_Shift_Del_p.E303fs|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Frame_Shift_Del_p.E437fs|CHEK2_uc003adv.1_Frame_Shift_Del_p.E365fs|CHEK2_uc003adx.1_Frame_Shift_Del_p.E173fs	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	394	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						ACAAGAACTTCAGGCGCCAAG	0.423			F			breast		Direct reversal of damage;Other conserved DNA damage response genes				
DDX17	10521	broad.mit.edu	37	22	38895455	38895455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:38895454_38895454TC>T	uc003avy.4	-	2	592	c.489_489GA>A	c.(487-489)ggafs	p.G163fs	DDX17_uc003avx.4_Frame_Shift_Del_p.G163fs|DDX17_uc011anu.2_Frame_Shift_Del_p.G76fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCA	0.383												
PNPLA3	80339	broad.mit.edu	37	22	44328952	44328953	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:44328951_44328952T>TC	uc003bei.1	+	3	853_854	c.680_681T>TC	c.(679-681)gtcfs	p.V227fs	PNPLA3_uc010gzm.1_Non-coding_Transcript	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	Homo sapiens patatin-like phospholipase domain containing 3 (PNPLA3), mRNA.	227					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				AGAGCTTTTGTCCCCCCGGATC	0.545												
ALG12	79087	broad.mit.edu	37	22	50297991	50297991	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chr22:50297990_50297990TG>T	uc003biy.3	-	7	1431	c.1157_1157CA>A	c.(1156-1158)cagfs	p.Q386fs		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	386					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCCACCTGTCTGGGGGGGCAC	0.642												
MSL3	10943	broad.mit.edu	37	X	11790307	11790307	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:11790306_11790306AC>A	uc004cuw.3	+	10	1418	c.1313_1313AC>A	c.(1312-1314)tacfs	p.Y438fs	MSL3_uc011mig.2_Frame_Shift_Del_p.Y289fs|MSL3_uc011mih.2_Frame_Shift_Del_p.Y426fs|MSL3_uc004cuy.3_Frame_Shift_Del_p.Y272fs	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	438					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CCTGACAATTACCCCCCAGGT	0.458												
CASK	8573	broad.mit.edu	37	X	41420817	41420817	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:41420816_41420816AT>A	uc004dfk.4	-	11	1235	c.1109_1109AT>T	c.(1108-1110)atgfs	p.M370fs	CASK_uc004dfj.4_Frame_Shift_Del_p.M118fs|CASK_uc004dfl.4_Frame_Shift_Del_p.M555fs|CASK_uc004dfm.4_Frame_Shift_Del_p.M555fs|CASK_uc004dfn.4_Frame_Shift_Del_p.M549fs	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	555	L27 1.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ACTTACAAGCATTTTTTGCAG	0.303												
MED12	9968	broad.mit.edu	37	X	70360600	70360608	+	In_Frame_Del	DEL	CAGCAGCAA	CAGCAGCAA	-	rs77728008		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:70360599_70360607GCAGCAGCAA>G	uc004dyy.3	+	41	6358_6366	c.6159_6167GCAGCAGCAA>G	c.(6157-6168)cagcagcagcaa>caGa	p.2053_2056QQQQ>Q	MED12_uc004dyz.3_In_Frame_Del_p.2052_2055QQQQ>Q|MED12_uc004dza.3_In_Frame_Del_p.1903_1906QQQQ>Q|MED12_uc010nla.3_In_Frame_Del_p.682_685QQQQ>Q	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	2053	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					agcagcagcagcagcagcaacagcagcaa	0.598			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome					
MAGEE2	139599	broad.mit.edu	37	X	75004754	75004754	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:75004753_75004753TG>T	uc004ecj.2	-	0	327	c.134_134CA>A	c.(133-135)cagfs	p.Q45fs		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	45								p.Q45L(2)|p.Q45fs*27(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGAGGGCACTGGGGGGCATC	0.587												
NOX1	27035	broad.mit.edu	37	X	100117698	100117698	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:100117697_100117697CT>C	uc004egj.3	-	4	656	c.450_450AG>G	c.(448-450)aagfs	p.K150fs	NOX1_uc004egl.4_Frame_Shift_Del_p.K150fs|NOX1_uc010nne.3_Frame_Shift_Del_p.K113fs	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	150	Ferric oxidoreductase.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AAGAACCCCCCTTTTTCTCAT	0.502												
MORC4	79710	broad.mit.edu	37	X	106186092	106186093	+	Frame_Shift_Del	DEL	CT	CT	-	rs113069970		TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:106186091_106186092CCT>C	uc004emu.4	-	14	2304_2305	c.2029_2030AGG>G	c.(2029-2031)ggtfs	p.G677fs	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Frame_Shift_Del_p.G677fs|MORC4_uc004emw.4_Frame_Shift_Del_p.G425fs	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	677							ATP binding|zinc ion binding	p.Q677*(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGTTGTGCTACCTCTGTTAGAT	0.470												
ZNF280C	55609	broad.mit.edu	37	X	129370543	129370544	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:129370542_129370543G>GT	uc004evm.3	-	6	767_768	c.564_565C>AC	c.(562-567)aaaccafs	p.K188fs	ZNF280C_uc010nrf.2_Frame_Shift_Ins_p.K188fs	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	188	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTGGTCTTTGGTTTTTTTGGAG	0.361												
MAP7D3	79649	broad.mit.edu	37	X	135314030	135314030	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:135314029_135314029CG>C	uc004ezt.3	-	7	1308	c.1087_1087CG>G	c.(1087-1089)gagfs	p.E363fs	MAP7D3_uc004ezs.3_Frame_Shift_Del_p.E328fs|MAP7D3_uc011mwc.2_Frame_Shift_Del_p.E345fs|MAP7D3_uc010nsa.2_Frame_Shift_Del_p.E321fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	363						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ATGCTCAACTCGGGGGATGCG	0.592												
CXorf66	347487	broad.mit.edu	37	X	139038625	139038625	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:139038624_139038624AT>A	uc004fbb.3	-	2	539	c.517_517AT>T	c.(517-519)ttafs	p.L173fs		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	173	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GACTTGCTTAATTTTTTTGAG	0.408												
DUSP9	1852	broad.mit.edu	37	X	152915674	152915674	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8081-01A-11D-2340-08	TCGA-BR-8081-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837ee400-9797-4e3f-a7f7-146ad1bde639	71909f3a-4187-4dca-8a94-f4fe08189521	g.chrX:152915673_152915673TG>T	uc004fhx.4	+	3	1272	c.1068_1068TG>T	c.(1066-1068)agtfs	p.S356fs	DUSP9_uc004fhy.4_Frame_Shift_Del_p.S356fs	NM_001395	NP_001386	Q99956	DUS9_HUMAN	Homo sapiens dual specificity phosphatase 9 (DUSP9), mRNA.	356	Tyrosine-protein phosphatase.				JNK cascade|inactivation of MAPK activity	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.S356I(1)|p.G355S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGGGCAGTGGGGGGCAGG	0.657